tag:blogger.com,1999:blog-57511385153287285342024-03-05T10:26:53.727-07:00This Bug's LifeUnknownnoreply@blogger.comBlogger462125tag:blogger.com,1999:blog-5751138515328728534.post-81819537167139297092023-10-08T17:43:00.004-06:002023-10-08T17:43:42.298-06:00Let's be bluntI found this in my drafts and have no idea WHY I didn't post it. So now...unfinished but still to the point of don't give up and be the advocate your child needs, I post.<br /><br /><div style="text-align: center;">++++++</div><br />After a conversation with my friend Patty, you know the one who pointed us toward Tethered Cord Syndrome as a possible diagnosis for Bug, I was moved (and since we discussed adding to the research) to write, in very clear terms, how we got to a happier, healthier Bug.<br />
<br />
Bug was going downhill slowly. In 2009, he had no diagnosis aside from Autism and we were left researching on our own. His Doctors, at the time, would throw their hands up and ask US what WE wanted to try next. I don't need to point out how disheartening this is. You are watching your son seize more and more and all you get when you walk into the exam room is: SO, what do YOU want to try now? In my mind I said: I want to try YOU being the Doctor and me being the Mom who trusts you to help. What I said was: here's our list. He did NONE of the testing but DID break out the prescription pad.<br /><br />This blog is full of my frustration with being ignored and, honestly, reading through it makes me want to stab someone. Time and again, we would ask for a test and be denied. They would lose the results and then the results would be found later. Every relief that Bug received was because Glenn and I didn't give up. Where his Doctors thought his case was 'unfortunate' we saw unanswered questions and a possibility for improvement. More than a few times we were made to feel like we were grasping at straws and maybe a little more than naive. But damn it if we weren't right!<br />
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Let's list:<br />
<br /><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzU_AV5-egeyliyb-EfAeRQDDgEuZJn1GbZ13luLnvco2jfHvyPWOxEJnz4Am8LRocWoBE21avwPJwsDsuMo0rr_516U3cTbfp4tK2RdOqVCxfpOIoP1QUlsTP4gGYJ7Styz-5nBmKV6g1GyM7D2Aq7Sk8mSmXRsLP5BOc4zeeN2aHcnRLswci8yXtnDo/s1600/IMG_1067.JPG" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1200" data-original-width="1600" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzU_AV5-egeyliyb-EfAeRQDDgEuZJn1GbZ13luLnvco2jfHvyPWOxEJnz4Am8LRocWoBE21avwPJwsDsuMo0rr_516U3cTbfp4tK2RdOqVCxfpOIoP1QUlsTP4gGYJ7Styz-5nBmKV6g1GyM7D2Aq7Sk8mSmXRsLP5BOc4zeeN2aHcnRLswci8yXtnDo/s320/IMG_1067.JPG" width="320" /></a></div>1. Ears - I told his Neuro I wanted to have his ears examined. Neuro told me it was just the seizures, and I said, "Have we confirmed that? What if it's NOT?" So we checked his ears and found persistent fluid. He had ear tubes and immediately stopped crying in restaurants and covering his ears around people. His seizures changed a little but not enough to call it an improvement on that front. But being able to take him out without him trying to run away screaming was a massive improvement.<br />
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2. Cerebral Folate Deficiency - I asked repeatedly for a lumbar puncture at nearly EVERY Doctor visit. And at nearly every Doctor visit I was told it was unnecessary and intrusive, but I still asked. I even went so far as to annoy the Doctor who finally said:<div><br /></div><div><span> </span><span> </span><span> "</span>It's not going to tell us anything we don't already know."<blockquote class="tr_bq">
I replied: "Oh? Do we know what his glucose levels look like? Or his protein levels? His neurotransmitter levels?"</blockquote>
<blockquote class="tr_bq">
Doc, with obvious shock and annoyance on his face said, "You think he has Alzheimer's?" </blockquote>
<blockquote class="tr_bq">
I responded with similar shock and annoyance: "Can you prove he doesn't?"</blockquote>
This kind of thing happened at so many Neuro appointments until the Status Epilepticus when I asked the attending Doctor for one. This Doc said:<br />
<blockquote class="tr_bq">
"He hasn't had one? I'll do it this afternoon."</blockquote>
A different Doctor, a few days later, told us it was normal and sent us home. A YEAR later his NEW Neuro told us his results were not actually normal and it 'could explain everything'. Bug started Leucovorin for the low levels of 5-MTHF and that night he slept better than he had in years. Seizure improvement and cognitive improvement ensued. I asked WHY he had CFD and was told: There are many reasons why but none of them make sense for Bug.<br />
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<div class="separator" style="clear: both; text-align: right;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhmcAzn1h5uK4blmOgYyK_ZQh1p-0gZQZVLlmBwXJzMrm1qTMY8kLFcaCgiEaxj9ftxOG6G4N8j8nsGObL6aaA7c_8t1osESc20ph5PibpWii6-EHNVxeoIKa4tKC3pW2eUplPCDFEFnBhPX361fiTEK79oQO7MAPPYsFiLKcS7RLSadEsU35vd_U7sVgs/s1632/1063765_10200411832394534_845517941_o.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1632" data-original-width="1224" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhmcAzn1h5uK4blmOgYyK_ZQh1p-0gZQZVLlmBwXJzMrm1qTMY8kLFcaCgiEaxj9ftxOG6G4N8j8nsGObL6aaA7c_8t1osESc20ph5PibpWii6-EHNVxeoIKa4tKC3pW2eUplPCDFEFnBhPX361fiTEK79oQO7MAPPYsFiLKcS7RLSadEsU35vd_U7sVgs/w150-h200/1063765_10200411832394534_845517941_o.jpg" width="150" /></a></div>3. Folate Reductase Autoantibody - We went home after the appointment detailing the CFD and began to research possible causes. Both Glenn and I hit on Folate Reductase Autoantibody and I printed out the paper and took it to his PCP. I still have the link saved on my browser bar. THAT is how important this was for him and it's also something I evangelize because of the changes we saw in Bug and the inexperience the medical world has with it. This diagnosis would set the stage for things to come: rare diagnosis.<br /><br />The treatment for FRa is IViG. Bug had 2 treatments and each time had less seizures until the insurance company began rejecting it. They would prefer to spend hundreds of thousands of dollars on hospital visits than 3K per treatment for a total of 6 to 12 treatments. Makes sense right? With this diagnosis, we are at a stand still. We saw the specialist that we needed to see and his office asked us to stop CCing them on his care. They abandoned us. Completely.<br /><br /><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhQgmQjarHAHlnWbV2zzgmh2LARtVRFzE3_KqCqYFjZDCSfi4f2O41SxfuedJnx904JKiygy5SB5Yx7Hd70rt-xO38k2iswMqjNUAcfr8lA49hbNs26sYOPlZRhUHLrxyeP8q974SY93nw4EJFjiI66FTyAYOSt_W27t7ChqPYuhQ14f2uiEVMCFld-9Lo/s2048/IMG_6408.JPG" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhQgmQjarHAHlnWbV2zzgmh2LARtVRFzE3_KqCqYFjZDCSfi4f2O41SxfuedJnx904JKiygy5SB5Yx7Hd70rt-xO38k2iswMqjNUAcfr8lA49hbNs26sYOPlZRhUHLrxyeP8q974SY93nw4EJFjiI66FTyAYOSt_W27t7ChqPYuhQ14f2uiEVMCFld-9Lo/s320/IMG_6408.JPG" width="240" /></a></div>4. KBG Syndrome - This one should have been found years earlier had anyone listened to us. Bug had sooo many markers of a genetic mutation it was stupid. This same early Neurologist refused to do genetic testing because he fell back on: "it won't tell us anything we don't already know". He would sign off on microarrays though. So we tested for things like Dravet, Fragile X, LGS and a few others which were all negative. Eventually we were able to see a geneticist who also recommended additional testing. The Geneticist agreed with us: there is something there, there were too many differences between Bug's siblings and himself that there had to be something to find. Yet, his Neuro did not agree and we were left stunned and upset. I imagine this Doc thought that if it's even more rare then the microarrays would show, there is no point in finding it because there is nothing to do about it. That was the end of working with Primary Children's Department of Genetics.<br /><br />Then we advocated for Cannabis and met some amazing people. One of those people created an organization for rare diseases and partnered with a local genetics company. Aware of Angels founder, Season Atwater called me and told me she wanted to offer us one of the testing options they negotiated: Whole Exome. I originally turned it down, thinking we were just going to have to learn to live with no answers (since that is what we were told to do by numerous Doctors). And then Glenn said to me:<br />
<blockquote class="tr_bq">
"Why does Bug deserve less than everyone else?"</blockquote>
<br />
Ouch. And good point. So I called Season back and told her that, yes, we would be pleased to participate. We arranged for the samples to be collected and made a friend with the researcher. He's one of the first people we asked to be on our Scientific Advisory Board. After losing the results, re-drawing, and getting an inconclusive result that later turned into a custom testing assay, and a result of a de novo mutation in ANKRD11, we were told that there was no support and good luck.<br /><br />Glenn turned to me and said:<br />
<blockquote class="tr_bq">
"So you'll create one."</blockquote>
I shook my head yes, and we did. It changed nothing...at first.<br /><br /><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjlcd6ZG3bj1kLW7fv_3QVW6wAKfeDsdj-2tHjvv6iP2UhKDMMSLZrq5GTxnK44Gldjo3R1dkavVyMB7zQs9QO8od8hY0w4k-JFY4WU8_X5t4yiQB-AGK2rTKbkqHWhbQo35mmDg_DSFvS8OMpYq93tnS13suihnPjAJ1-9RvfvRsLCg1v4IZyq4k-B-1c/s960/14900524_10207905135082418_4736956704296571277_n.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="540" data-original-width="960" height="180" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjlcd6ZG3bj1kLW7fv_3QVW6wAKfeDsdj-2tHjvv6iP2UhKDMMSLZrq5GTxnK44Gldjo3R1dkavVyMB7zQs9QO8od8hY0w4k-JFY4WU8_X5t4yiQB-AGK2rTKbkqHWhbQo35mmDg_DSFvS8OMpYq93tnS13suihnPjAJ1-9RvfvRsLCg1v4IZyq4k-B-1c/s320/14900524_10207905135082418_4736956704296571277_n.jpg" width="320" /></a></div>5. Possible NFLE - After a growth spurt, Bug began toe walking. We brought it up with a few Doctors who thought it was neurological in nature and we were told we should look into botox shots in his ankles. Ouch. Then Bug went into Status Epilepticus and we spent 6 weeks in Johns Hopkins. During that period Glenn and I spent more time researching than we had in the past. It seemed like our boy wasn't going to come home with us and that possibility just was not going to be allowed to come to fruition. One day Glenn sent me a news story about a little girl with Nocturnal Frontal Lobe Epilepsy. Bug was having 200 seizures a day and I told Glenn he needed to show this to the Doctors and explain it in vernacular that they could respect. He did and they thought he was onto something. The NFLE has a genetic component and also can be a clinical diagnosis. Bug fit into the clinical realm and we added Tegretol. The first night, Bug went from 100 seizures to 3. The next night he had 1. The night after that he had no seizures. And it stayed like that for 16 days. 16 glorious days. Then we lost everything. He didn't just have one more, he had 4 in 6 hours. The swears that flowed from me and the depression that crept in was staggering. While it wasn't NFLE, the treatment for it bought us a longer dry spell than we had experienced since Bug was 5.<br /><br />6. Stomach Erosion - While Bug was at Johns Hopkins for those 6 weeks, I asked them to do an endoscopy. They refused because he was so ill. I argued that the mucus they were seeing was actually stomach acid and not pneumonia. They didn't believe me and ordered a chest xray. His chest was clear so they declared the mucus to be an upper respiratory infection and although his white cell count was fine (on the high end of normal) they added an antibiotic and a feeding tube. Bug's body rejected that tube and, even though he was unconscious, he kept coughing it out. They moved to an NJ tube which he also coughed out of place while developing a fever. I told them that the fever was a result of the tube and was summarily ignored. Once we got him a little more stable and waking up more, they removed the tube and...what do you know...the fever went away! He was still gagging up mucus but not as much so they called the antibiotic a success. It was a coincidence and Glenn and I knew it. I asked again for an endoscopy and they told me to follow up later. So we did.<br /><br />We found stomach erosion from GERD. He started a stomach medication and his seizures improved again.<br /><br /><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgZ2z1awde_FaSH8mFBGbpsZ5pO2AoRtaEdg6o_ifJBUG4aO73ctoF5g3jNc_b1phaEv0nl2I5GGd2brbr2w-882dkX91OgFXGFIDx7LGtPiHjzCtCYmCWlpVtlrt11IMBcc66IlizWuelh2pDmkKHHIfT6VMXnF9aNbyRa6GX3SazCVbI1ubGei-TJhOQ/s1136/18111193_10209357671274915_2006555591_o.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1136" data-original-width="852" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgZ2z1awde_FaSH8mFBGbpsZ5pO2AoRtaEdg6o_ifJBUG4aO73ctoF5g3jNc_b1phaEv0nl2I5GGd2brbr2w-882dkX91OgFXGFIDx7LGtPiHjzCtCYmCWlpVtlrt11IMBcc66IlizWuelh2pDmkKHHIfT6VMXnF9aNbyRa6GX3SazCVbI1ubGei-TJhOQ/s320/18111193_10209357671274915_2006555591_o.jpg" width="240" /></a></div><br />7. Tethered Cord - After the stomach relief, his seizures were calmer for a few months. Then he started walking more and it got ugly. I took him to Johns Hopkins Orthopedics and was told it was probably because he was down for 6 weeks. I made a little joke about the Doctor not doing the required reading and that would cost him a full grade point and then told him about the toe walking with discussions of Botox that never panned out. He said we were passed Botox and needed heel cord release surgery. I was devastated and lamented a little on Facebook. Patty comment and asked if Bug was always a toe-walker.<br /><br />Bug didn't start toe walking until he was about 12 years old after a nearly 4 inch growth spurt. Patty then asked me a multitude of questions that NO Doctor had ever asked me. Not the Neurologists, or the PCP and not even the Orthopedic Surgeon. She suggested that I look into Tethered Cord Syndrome. What I found made me excited and angry. Excited because it could help him and MAYBE avoid foot surgery, angry because he might be permanently damaged orthopedically and <span class="Latn headword" face="sans-serif" lang="en" style="background-color: white; color: #222222; font-size: 14px;">urologically but at no time did I think it wasn't what he had going on</span>. Reading the description, I KNEW Bug had a tethered cord. Patty said: good luck getting anyone to listen to you. It's going to be a battle.<br /><br />It was a battle. Not anything I hadn't taken up swords against before though. I was lucky I had the previous experience of begging and guilting.<br /><br />It took 4 months to get the MRI even though both I had both his Neurologist and Orthopedist wanting to see the MRI to shut me up about it. There were two referrals for a sedated MRI and yet, I still could not get it scheduled. It was a giant nightmare and all the while, Bug was getting worse: he was seizing more and his legs gave out regularly while climbing the stairs. He even took me with him as I tried to stop him from tumbling down the entire flight of stairs. I took the brunt of that impact, which probably saved him, but it gave me a few injuries that have yet to calm down 2 years later. Once we got the MRI, it was declared normal and hooray! But it wasn't. I got a copy of the radiologists report and it was inconclusive for tethered cord. That is NOT the same as negative. We went to Boston Children's speciality clinic and they ordered more testing to confirm because that MRI could go either way.<br /><br />It was after that visit that Bug and I feel down the stairs and I called Johns Hopkins back and actually cried on the phone. The poor assistant that took my call and was telling me to go back to get a referral since she couldn't find the one they send and the one I got from NYU was not good at JHH, heard me cry and listened to our story. She pulled up the MRI and not just the notes and actually said: Wait...that is very clearly a tethered cord. Let me talk to the Doctor. We were in within a week and the surgery was scheduled a month out. Waiting that month nearly killed me. Bug would sit down and seize, he would walk and collapse, he was just miserable and I was a damn wreck. He couldn't go to school, he was seizing more, still nowhere near the 200 he was having the year before, but life was just on hold because of his lack of movement and seizures.<br /><br />The surgery scared me deeply. I imagined him seizing as she was opening his spine up and if I was a drinker I would have done that entire thing drunk as a Navy Sailor. He had a few complications, mostly because of the catheter they put in him, but his seizures were calmed down for 4 days by the use of valium and morphine. We needed him to heal. The fever he had developed went away once I convince them to remove the catheter when it was okay to change his diaper again. You do not want to move him to change him after cutting into his spine. The cath was a necessary evil and as soon as it could be removed, it was and he improved. Later the attending Neurosurgeon told us that they see this reaction in patients with an autoimmune disorder.<br /><br />I said, "Oh ya, like what?"<br /><br />He said, "Different things, you should see our Immunology department".<br /><br />"Oh, no thanks", I said, "We've met and they are not interested in him."<br /><br />The Doctor replied,"They should be."<br /><br />And he left us to get ready to head home. We got home and took it nice and easy. All things were slowed down dramatically while we followed his lead. Slowly we saw things in Bug we hadn't seen in years. His seizures were low (0-3 a day) and he was making great eye contact.<br /><br />Over time we realized the full depth of success of the tethered cord release. It was life-altering. Bug was back to his happy, playful self but he was still damaged from the length of time the tethered cord was left untreated.<br /><br /></div><br />Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-34834755122437896182023-10-08T16:45:00.001-06:002023-10-08T16:45:24.653-06:00Stitched<p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjoebg2CsuKuOIxbZUqZJSiaWMnWLqe3ioHjZxbzD4mD3S8oY9gxL4dl5JlCg4cPGjUW6avLntvvowpupCG3R6cEuffyhPhMEOO4-F4_D7eUUGHefF2EDhIQVpzqxJa-PsZ7g2qsU9Zh9GJ8zAJep799eHdWos5yxsZYK-qy_zoXbRaxuI79d4uMVPPpEs/s2048/Bug%20stitches%202023.jpeg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjoebg2CsuKuOIxbZUqZJSiaWMnWLqe3ioHjZxbzD4mD3S8oY9gxL4dl5JlCg4cPGjUW6avLntvvowpupCG3R6cEuffyhPhMEOO4-F4_D7eUUGHefF2EDhIQVpzqxJa-PsZ7g2qsU9Zh9GJ8zAJep799eHdWos5yxsZYK-qy_zoXbRaxuI79d4uMVPPpEs/w300-h400/Bug%20stitches%202023.jpeg" width="300" /></a></div>Bug cut his toe last night and needed 3 stitches. Doesn't seem like much but that type of injury can be a problem for him, as testified by the 3 seizures we've seen today so far. <br /><br />Three when he hadn't had more than 1 a day for weeks and even had four days with NO seizures. <br /><br />He's happy in between them and just wants to sit by me. Which is wonderful, challenging AND necessary. It was suggested that he stay off it for a few days and he doesn't understand that need to stay horizontal. He only knows what he wants and if he wants to wander; he wanders. <br /><br />I have so much pressure on me already and then this...<br /><br />What is normal for most Mothers is compounded with special needs children. Their care becomes a routine and then it becomes their new normal. This year our normal is even more complicated and the weight of it is very heavy. I have not broken just yet, but I am tragically bent. I will not come out of this year who I was, for better or for worse is yet to be seen.<br /><p></p><br />Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-999114540184480492022-05-23T09:29:00.003-06:002022-05-23T09:29:38.971-06:00It's always been about helping.<p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjD-EuPqrxjnjN9OsL8_YSHmvUIK-d5ZF0w2-tmPTr3iwizAFLsiOYj7T7EfTrmTzcyLn4gopkG2W7-8B-SVgEKg2YOoeKxxfNbdUWeZdetIZSPXe6bn1fA-1fGUxjCMIj7r0RZ1Zcawfo05Ym8hVpfol3AqDZW97O-zTAu0bItVjpgQfTBoxn6g5-A/s2223/Bug%20Riding.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="2223" data-original-width="1482" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjD-EuPqrxjnjN9OsL8_YSHmvUIK-d5ZF0w2-tmPTr3iwizAFLsiOYj7T7EfTrmTzcyLn4gopkG2W7-8B-SVgEKg2YOoeKxxfNbdUWeZdetIZSPXe6bn1fA-1fGUxjCMIj7r0RZ1Zcawfo05Ym8hVpfol3AqDZW97O-zTAu0bItVjpgQfTBoxn6g5-A/s320/Bug%20Riding.jpg" width="213" /></a></div> <br />I stare at this blank page and no happy thoughts cross my mind. I've watched him go downhill for years and am always just happy that he still smiles and that the seizures aren't as bad as they used to be. I know my words make people sad, imagine living it and being dumb enough to write it down, believing that I may convince someone to help? <br /><br />The faith I have in people is dwindling rapidly. <br /><br />So much has happened and continues to happen. Things that I have no control over but am simply trying to do my best to keep the focus: helping others. <br /><br />It's that simple for me. <br /><br />Be honest. Help others.<br /><br />It's why I started this blog, to help us help him, when I thought we were alone. I wanted to track exactly what was happening when we tried new treatments. We tried so many and each time he didn't respond as expected. <br /><br />I have 14 years of NPO experience, not just on a Board, but putting back the oversight documents, cleaning up what has been broken and crossing the T's and dotting the I's. I do things BY THE BOOK like my Dad taught me. People that wanted a club, they didn't see the need for organization and oversight so they called me names, lied about me and left. I KNOW I am doing it above board and honestly. <br /><br />All to help him. <br /><br />He made me a Mom, something I NEVER thought I would be, I was in awe of him from the moment I saw two lines. I have fought for him since before he was born, why would I sacrifice the battle by doing something that could cause a fracture in the united front to help everyone like him? That's what hurts the most: losing the united front because people want the attention. That's what it feels like. <br /><br />He is on the severe end and I watched him change, I watched him regress while screaming about it only to be ignored. To have people that understand that and that our experience can help avoid...why would I undermine that? It broke my heart, why would I let others go through that?<br /><br />It's never been about me. 60 hours a week...it's never been about me. <br /><br />Because of my focus: Be honest. Help others. I hold everyone that works with me to that same standard. If you can't do that, I will call you on it. That's what I have done. Repeatedly. <br /><br />Because it's about him. And there is nothing I wouldn't do to help him, including public ridicule. I will never give up, do not underestimate me. I may not agree with you, but I will ALWAYS do what is right. Just so we are clear. <p></p>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-28565102479203905192021-09-03T21:50:00.002-06:002021-09-03T21:50:16.187-06:00Try or Bye?<p> I think it's time to officially melt into obscurity.<br /><br />No real reason to update this blog anymore. </p><p>No one in my family reads it, few people visit, he's stable most days, the long seizure things are happening more frequently and I have to think that this is his brain breaking down. Can't escape it and people don't want to hear about it. They are consumed with their own battles of life and perceived death and I no longer feel like his life can help anyone else. <br /><br />I think I am officially done. I just am not getting it right so why try? </p>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-12038834017798746602021-08-06T10:32:00.002-06:002021-08-06T10:32:42.641-06:00No good<p>Rare.<br /><br />Bug IS rare and he is rare on rare on top of rare. I don't want this to be the case but here we are. He has a few things going on that don't play nicely with each other, not because it makes things WORSE but because it makes multiple scapegoats. <br /><br />Are the seizures KBG, Autoantibody or GI? No one knows where to point for a treatment but we HAVE seen relief. 16 days of it in 2016 so we know it exists. But we don't know WHY it existed at all. </p><p>The biggest problem, aside from his lack of communication is that he isn't like others with the same diagnosis. As far as I know he is the only one with a KBG and FRa diagnosis so we really have to think out of the box. WAY out of the box. It's difficult to live with. Yes, there are a few other KBG patients that have non-KBG things going on and I know they feel this too. <br /><br />I read questions posted by other KBG families and I want to answer them but my answers aren't helpful because he isn't like the rest. He doesn't LOOK like he has KBG, he doesn't have the most typical traits of KBG and it s a knife that cuts deep. How do I help him more if he doesn't present like his diagnosis? And when I do respond it often goes ignored because he isn't like everyone else.<br /><br />Even within the group, our experience is often downplayed or attributed to something 'common'. When I explain WHY it's not common I usually get: 'oh, ya, that's weird' and we are back to being on our own. No one wants to look into their reaction being like Bug's reaction and may actually be caused by what we suspect caused his. We are relegated to atypical even within atypical by people who are trying to figure it out JUST like we are. It's pounding my head on a wall for 15 years and I'm getting tired. <br /><br />Bug is sleeping weird again. He will stay up until 2am and sleep until 3pm. We put him to bed between 9:30 and 11:00 and if he falls asleep by Midnight then he will probably sleep until 1pm. So do we add Vitamin D back? Do I get him tested for a D deficiency again? Or do I just give it to him? Who do I ask now? <br /><br />I'm so tired of being THAT Mom. The one that does the work and then asks the Doctor only to feel like I've gone too far and insulted their knowledge. It's not the Doctors making me feel this way, it's the fact that other families get tests thrown at them without asking. Yes, hell yes, I'm jealous. Because I had to BEG for tests. I bring up those results and are told: we will just keep an eye on it while OTHER families are prescribed a treatment protocol. What is it? What do I do wrong? Is he really THAT unimportant? Or are we just that unlucky? What is it? <br /><br />I don't think I have felt this...helpless? Useless? Isolated? Foolish? since he first started seizing. It's not okay. <br /><br />No good words there. Uh oh. </p>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-29237013758099171162021-06-24T21:16:00.003-06:002021-06-25T09:01:56.290-06:00Wanting<p>About this blog: I used to just keep track of his seizures and the medications we were using because things were changing so much, one thing after another, I was losing track of it all. We were trying so many different things and searching for the reasons why and it has come in handy when I can't remember what medications he was on in June of 2008. Then it turned into something else: his story told by his greatest fan. <br /><br />It's been difficult to write these posts sometimes. The emotions are crazy strong as I detail the, mostly horrible, days of his life. Sometimes I share the victories but those are so rare now that he is older, it's hard to remember when he made progress.<br /><br />We THINK he is making some progress with walking. Hard to say because he still limps profoundly. I am supposed to call and set up another ortho appointment but every time I start to call...I cry. I was so strong for so long and now...I feel utterly defeated. Like nothing I do matters to his quality of life. He's 18 and it feels too late. It feels like calling the Ortho, or any Doctor, will mean more pain for him. I believe that ONLY a treatment for KBG Syndrome will make a true difference and I can't get many people, or nearly any of my family and friends to help. So few of the thousands I know. I suppose, they are used to me just doing what needs to be done. But I'm distracted again with his health.<br /><br />His seizures are changing. They are getting longer and a little more frequent. When I go out with the kids and he can't join us, I can't distance myself too far from what might be happening at home. This obsession can not be healthy. I just want to be typical, I just want to not fear the night and what may come with each seizure. Bug is an unknown to me. I don't know how he thinks or how he feels, I can only speculate and project. I remember the child he was and I speculate that he is just as playful and just as gregarious. But I don't actually know. I project that he enjoys life and loves to be around us and out in society with us, but I don't actually KNOW.<br /><br />And I don't know of any other KBG patients that don't communicate at all. There are those that don't, or can't, talk but they still TRY to communicate. They show emotions and have ways to let their thoughts be known but Bug...well, he doesn't even try. We don't even know what his favorite color is. If he even has one. It really hurts when he has bad days and I can't decipher why. I wonder what it's like inside his head and I fear the answer.</p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjAZagbKhiAJpyhO41GWk029DvbVg4Ic6LC2ulP3oyVdJD2NX8XQrB387O72AWzfQ8Uo3czKY1TlDzRAqi2FgM3OEOuIpiZKgVxqJfhM1WOlWMewv97qqu0OcKYWOdvlBykOemaXqNU_04/s2048/IMG_2899.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjAZagbKhiAJpyhO41GWk029DvbVg4Ic6LC2ulP3oyVdJD2NX8XQrB387O72AWzfQ8Uo3czKY1TlDzRAqi2FgM3OEOuIpiZKgVxqJfhM1WOlWMewv97qqu0OcKYWOdvlBykOemaXqNU_04/s320/IMG_2899.jpg" /></a></div>I talk to him, tell him I love him and comfort him and I have no clue if he understands. He doesn't show that he does but when I smile...he smiles back. Most days, that's enough. Today it isn't. <br /><br />Today he had two seizures in 30 minutes and my brain can not let that go. I need distraction but I can't be fully distracted because I wonder if I had a treatment for him and the other KBG patients would he STILL be the one it didn't work on? That's his luck after all. Don't believe me? Look through this blog, it's rife with failures and disappointments and WTF moments. Things that shouldn't happen...do. And things that should happen...don't. <br /><br />I'm utterly defeated and feeling completely alone again. Even with all these lovely KBG Families around me. I feel I am not the strong leader I once was or Bug just doesn't matter because he's not cute and he isn't really sick from something that can be cured if only there was funding. <br /><br />Nope, he's just Bug, the boy who doesn't get excited to meet a celebrity, the boy who doesn't post a heart felt video of encouragement or beg for a cure in tears. He's just Bug, he's not a poster child or a feel-good story. He is disposable in the medical world. They have measured his quality of life and the actions taken, or not taken actually, show that they don't consider him a productive member of society. They don't see the value in helping him. Just like so many others. He isn't truly seen, only tolerated. And everything I touched today ended up broken so I then have to wonder: was it me that made things bad for him? :( <br /><p></p>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-53775783355531654682021-04-25T11:04:00.003-06:002021-04-25T12:11:59.934-06:006:00am<p>Through the video camera I heard the unmistakable sound of a tonic/clonic seizure and I thought I dreamt it. Then the realization hit me that I WAS hearing the horrible thing as it was actually happening. T/C's are so infrequent now that I struggled to shake the sleep from my eyes whereas three years ago, I would have been at the door on the way down the hall in the same time it took me to simply open my eyes. <br /><br />I looked at the iPad displaying his camera and sure enough, he was seizing but it was already slowing. I checked the time: 6:05am. I watched him coming back around and elected to wait to see if he would go back to sleep. I saw his breathing slow and become normal again and the memories sprang into my head:<br /><br /></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgJJaAkR3f7MB2rdvcZYzat0hLEGYNPVgKr6qs26FmVKnLME35Z2nil9K0N_TibI2p-WcdEAdlW3P_unopRd1kF-s2VakzZXrrsZ6jjSep0UZRycP0GhlQDvtPSE7PLrXWbV_9aM9G0AGw/s960/Bug+2.jpg" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="640" data-original-width="960" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgJJaAkR3f7MB2rdvcZYzat0hLEGYNPVgKr6qs26FmVKnLME35Z2nil9K0N_TibI2p-WcdEAdlW3P_unopRd1kF-s2VakzZXrrsZ6jjSep0UZRycP0GhlQDvtPSE7PLrXWbV_9aM9G0AGw/s320/Bug+2.jpg" width="320" /></a></div>Every morning between 6:00am and 6:30am a 2 year old Bug would wake for the day. At that time he had not had a discernible seizure. He was a small but physically advanced strawberry blonde who was nearly always smiling or eating. He played hard and seldom slept and by the age of 9 I thought I would not see him celebrate his 10 birthday. The 6:00 am wake up was replaced by the 4th seizure of the day at that same time. <p></p><p>Every time his seizures increase I look for indications as to why. <br /><br />I check his arms, chest, head, legs, every short little toe and finger. I look for bruising or cuts I missed. I look for foreign objects, rashes and swelling. <br /><br />Which is why I know that today he has a bump on the bottom of his right toe and that seems odd to me. Just a little bump. Probably nothing.<br /><br />His seizures are still within baseline but they have also increased from the lull of the last 3 years. Two days this last week we saw 4 seizures in 24 hours, 1 complex partial that lasted at least 20 minutes and that damn T/C. <br /><br />Why?<br /><br />No clue.<br /><br />None at all. Could it be his stomach since he has been drooling more? Possibly. Could it be his teeth since they refused to fix them years ago at PCH when he broke one during a seizure and then Maryland put him on a ONE year waiting list for anesthesia-required dental care? ONE YEAR that was up last June. When everything was still shut down. Possibly. Why does it take so long to get help for this child?<br /><br /></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh0ZLuzhLrFvO1cAExJGgyshd7PkHDX8HMEh_a_3v66q_ZLWbBm6knM3-_b_nROW23cN4YuC_XMAkyZlmupi04U6yPVxhH_odquf-g-o6Lg26IpNVpoHesNj_gHPacFdcBhaVxdhHfONOA/s1875/Bug+Senior.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1875" data-original-width="1500" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh0ZLuzhLrFvO1cAExJGgyshd7PkHDX8HMEh_a_3v66q_ZLWbBm6knM3-_b_nROW23cN4YuC_XMAkyZlmupi04U6yPVxhH_odquf-g-o6Lg26IpNVpoHesNj_gHPacFdcBhaVxdhHfONOA/s320/Bug+Senior.jpg" /></a></div>I surmise it's because he's not important to most people. Most people that DON'T know him, don't really care about how he is doing. They look away. They say horrible things that no human should say to, or about, another human. Doctors measure their time per patient by quality of life. As if anyone should morally judge another as valuable. In order to do that we have to quantify the by-product of the person, we have to check boxes that tell us what makes one person valuable to society and what doesn't. We do it without thought right now, using our internal measuring stick because we've been shown that you CAN put people inside boxes of importance and acceptance. And with Bug, that stick comes up painfully short because his favorite thing in the whole wide world is spinning things and spending time with his family not interacting with others. I smile at him and he smiles back. It's a good relationship that makes me feel blessed. How is that NOT of value? His life helps others and from what I know of him before we lost so much of his communication, he would love that he made people happy.<br /><br />Today I sit by him and make sure we aren't missing any seizures or anything that might explain the increase. Because when you have a nonverbal child, anything out of the horrible typical that you live in could mean something bad is happening. Something really really bad. <br /><br />And yet...he still smiles. <p></p>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-25340954187931967202021-04-05T12:13:00.000-06:002021-04-05T12:13:26.686-06:00Counting<p>The single most difficult thing for me in life with Bug is his complete lack of interest in anything or anyone that doesn't spin. Yes, he smiles at me and it makes me feel like I have been given a gift more precious than anything in heaven or on earth. But that's because he doesn't engage in anything people would expect a special needs kid to engage in. <br /><br />He has no favorite sport.<br />There is no excitement over Disneyland.<br />Movies are not a trip to another world or place, they are dark so he sleeps.<br />He is NOT impressed by celebrity. At all,<br />No favorite food or begging for his favorite anything while at the store.<br />He doesn't laugh, or even giggle unless it's a seizure.<br />In fact, he shows little to no emotion aside from the smile and the hand holding. <br /><br /></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjX87-DWjc3Ldwwg8jhclXw96C6LaxTQTFVQ3TGxJR_wgR4rzalyLeGxFfvkSMn__oTMttIeLEb7CTmlAi61rPf8W8RRuP_Y7GDZwtBRwzm9HzCCTx8zRUvwFyESE9Bs_i4zVFgbI0lS9g/s960/Bug+Outside.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="720" data-original-width="960" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjX87-DWjc3Ldwwg8jhclXw96C6LaxTQTFVQ3TGxJR_wgR4rzalyLeGxFfvkSMn__oTMttIeLEb7CTmlAi61rPf8W8RRuP_Y7GDZwtBRwzm9HzCCTx8zRUvwFyESE9Bs_i4zVFgbI0lS9g/s320/Bug+Outside.jpg" width="320" /></a></div>It makes his life very simple though. There are no demands to go or do or be or eat. There is only time with our family and maybe sitting or walking outside. But give him something new to spin and he MAY show happiness outside of these things. Still, we try many new things and some old favorites...just to see. <br /><br />It's truly simple but oh how it hurts sometimes. <br /><br />I watch videos of special needs people getting excited singing songs, meeting a celebrity sports personality or movie star. The people around them get excited too. The celebrity gets teary-eyed and hug-y and everyone else starts to clap or dance. It's sweet.<br /><br />Bug doesn't engage in any of that and somedays it's just really really difficult. It aches in ways very few people understand, even special needs families because they get those moments of knowing exactly what their child is feeling being around something they enjoy. I get Bug spinning whether he smiles or he is sad. Is it pathological? A need that has to be fulfilled? I don't know. I don't know what is purposeful and what is autonomic and necessary to fulfill something he doesn't have. Yet, he can walk and breathe and eat all on his own. So much more than many special needs people can do. He is a dichotomy that no one can explain. <br /><br />I watched a few videos lately, that's what brought this on. Videos shared by people who said things like: 'This is the best thing you will see today.' Meant as a reminder of the importance of appreciating the simple things. Simple things that most in the special needs community exalt. It's meant to make people realize how they forget the goodness of the simple life. It reminds some of us what we don't have. I don't want these videos to stop making the rounds mind you, it's important for people to see the ENTIRE world, not just specific shades of it. I admit, I get all teary-eyed too, I see the beauty in seeing the simple joys that life has to offer and I love that someone else actually enjoys those simple things!<br /><br />I guess I just get a little jealous that I don't have a child that can communicate his dreams, wants, desires or joys. He just is. And no one can see him if I don't show them. It seems exploitative to do that. So I share precious little about his life actually and I've been told I post too often. So I post even less than I want to simply to make others more comfortable. :( Makes me a bit of a hypocrite doesn't it? I take him with me, whenever I can, and I don't make apologies for bringing him, I make him included but I don't post online about it so that others don't feel uncomfortable? Hmmm.<br /><br />He's doing well physically. Been pretty active even with this virus/cold/whatever his little brother brought home. Pretty sure his teeth hurt and I need to get him into the only Dentist in Maryland that I could find that would take him. :( Dark day today, maybe tomorrow will be brighter when I appreciate that he is happy and that's all that counts. Right? <p></p>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-21077063399037763502021-02-20T20:43:00.001-07:002021-02-20T20:43:40.154-07:0018<p> </p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjt67gPsROty_RPwPr0Gag8H9Qn3jLZMzyIf72g1CmZPwnP6Cc3cm3t9bOGyUxDm7U_hS_1vJ3azdw03vHJIMPgQouClWp4kXgRCO2JZJSKsxnOpniBYq2jpVL8ZJXglqvQcm5FdfSDfuI/s960/Bug+Senior+Picture.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="768" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjt67gPsROty_RPwPr0Gag8H9Qn3jLZMzyIf72g1CmZPwnP6Cc3cm3t9bOGyUxDm7U_hS_1vJ3azdw03vHJIMPgQouClWp4kXgRCO2JZJSKsxnOpniBYq2jpVL8ZJXglqvQcm5FdfSDfuI/w256-h320/Bug+Senior+Picture.jpg" width="256" /></a></div>Bug turned 18 a few months back and I was in a bit of a panic. Why? <br /><br />Medical rights.<br /><br />You see when you turn 18 you now sign for yourself. You make your own health choices (In Maryland that actually starts at 13. 13!) and your records are your own. <br /><br />I got an email from his pediatrician saying that I no longer had access to his medical records. This was after I asked them, several times, how I get to be declared his legal guardian. They said:<br /><br />"Have him sign this paper. "<br /><br />I laughed and then laughed some more and then said: "Oh, wait...you're serious. If I put this paper in front of him he will either rip it up or color on it. He can't sign his name. "<br /><br />The woman said: "He can't sign his name?"<br /><br />I thought: AAAANNNNDDDD...I'm done with you. But instead I said: "He's cognitively 18 months old. He's very delayed. "<br /><br />"Oh", she said, "well you could hold his hand."<br /><br />I took the paper and left. <br /><br />We did this a couple more times, each time I would explain he can't sign his name and each time they told me he HAD to. <br /><br />So when he turned 18 and they cut me off (I can still pay for him, BTW, so that's nice) I panicked a little. Okay, I panicked a lot. I reached out to people, researched and sweat for a couple of weeks before I realized: He won't be going back to that Doctor. That Doctor was just a Pediatrician. He now needs a Family Physician and I can start over with them. <p></p><p>If I get them to sign off on his inability to sign for himself it's my understanding, that it makes a power of attorney a ton easier. We were told Guardianship wasn't really needed in his case since he can't sign or speak for himself and never will (punch to the gut with that thought). A power of attorney as testified by his Doctor may be all we need. I'll be checking into that soon but in the meantime, I will try, by fire, and get an appointment with a few adult Doctors for him. I suspect a few of the Doctors he has may keep him a little while if they can, especially if it's a follow up situation. But if not...good...I'll use it as a second opinion. I need a few of those.<br /><br />Why? I think he has a food allergy. TMI maybe but he gets loose stool right around the same time he gets a rash, and pimples, around his mouth. These two things together in an infant mean food allergy. When he does this, his seizures pick up a little too. I've brought this up with his GI and he says he doesn't think it's a problem. And then there is the gagging that comes back if he isn't on 80mg of Omeprazole a day. A fair amount of KBG kids need surgery because they have a structural issue with their esophagus. Does he have this?<br /><br />Then there is his ears. His ears that have always been too sensitive, his ears that he plays with daily by stinking his finger in the ear canal and twisting. Something bothers him. I bring this up and they look in his ears and declare it good. Okay, then WHY DOES HE PLAY WITH HIS EARS? What's beyond what you can see Doc? What's inside? KBG kids often have middle ear dysfunctions. Is this what is happening? Does he need hearing aides? His current Doc is afraid they would bother him since she thinks, because he had an Autism diagnosis, that he would be 'over stimulated'. His Autism diagnosis was removed last year but here we are, still bowing to what he THINK Autism is for everyone. <br /><br />It won't be the worst thing to change to adult Doctors. </p><p><br /></p><p><br /></p>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-17789842866720306652020-06-17T17:03:00.003-06:002021-04-25T11:14:58.949-06:00WTF Bug: MAW and hotter water edition<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEglUByUJhDODDTTgAFR3Vn8SSG2CR7b0A7Z0TVl6kvR2PXIme-NtHE7zm0d0K9NMc95VYALw7HoUq-LONDama6nGyEUTW-LH9RGpWXDKRH-6iedeXMmTRttALepAAcUboWduGyTmPjtTno/s1600/Bug+Beach.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="604" data-original-width="403" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEglUByUJhDODDTTgAFR3Vn8SSG2CR7b0A7Z0TVl6kvR2PXIme-NtHE7zm0d0K9NMc95VYALw7HoUq-LONDama6nGyEUTW-LH9RGpWXDKRH-6iedeXMmTRttALepAAcUboWduGyTmPjtTno/s200/Bug+Beach.jpg" width="133" /></a>I can't make this up. I mean, it's just too unusual all the way around.<br />
<br />
Make A Wish - years ago, a lovely man who worked with MAW-Utah told me I needed to Make A Wish for Bug. I told him that we could buy Bug whatever his wish would be (he really isn't aware of the concept of celebrity so that leaves anything on the table that money CAN buy) and the wish resources should go to someone who REALLY needed the joy. We went back and forth and I told him that the only thing I could think Bug might really enjoy was swimming with dolphins. He loves the water.<br />
<br />
Then we moved.<br />
<br />
A few times.<br />
<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEim1LbWlavJt8rJ1zONV1qIFR4mGcbZFzBcrNXXii481RaomMuMDtAnPe7yFxcJsZYce0lO_dkDt6yVTyqyq3_0atO2VnisN1Awz1cUIMD2BcqfDXfulUvRSLQohRgq5qeIwr4VZ0kdI4M/s1600/14900524_10207905135082418_4736956704296571277_n.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="540" data-original-width="960" height="112" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEim1LbWlavJt8rJ1zONV1qIFR4mGcbZFzBcrNXXii481RaomMuMDtAnPe7yFxcJsZYce0lO_dkDt6yVTyqyq3_0atO2VnisN1Awz1cUIMD2BcqfDXfulUvRSLQohRgq5qeIwr4VZ0kdI4M/s200/14900524_10207905135082418_4736956704296571277_n.jpg" width="200" /></a></div>
He got really sick and nearly died, had two debilitating surgeries and we bought a house with a pool. Got him in the water at a temperature we thought would be fine and he seized AS SOON AS he got inside the house after an hour in the pool. We decided we would ONLY get him in when the pool AND the air temp were over 80 until we could get a pool heater. Money was tighter than normal because life, and I had a thought that heating the pool AND getting him down to it would be a great wish. He would stare out the window when the kids were in it and it broke my heart, when I would take him TO the pool, he often fell. After having back surgery and achilles surgery...falling can undo SO much he worked so hard to get.<br />
<br />
So I reached out to MAW National, filled out a referral, got a 'Thank You, we have forwarded it your local MAW: Mid Atlantic and you should hear from them soon'. I contacted one of his Doctors who said he would be on the lookout for the request and was thrilled we are woking his wish.<br />
<br />
6 months later, I emailed and received NO response. Another 5 months and still nothing and I groused about it to a rare Mom whose little one has KBG AND just got her wish. It took them 6 months total to get their wish granted. We were sitting at 9 months and I hadn't even heard from anyone. She reached out to her contact and he couldn't find anything. He told me to call Mid Atlantic. I emailed. They didn't say they didn't have anything for him, just that they would like to talk.<br />
<br />
Who has ever heard of Make A Wish LOSING A WISH REFERRAL?<br />
<br />
They called, I was busy and they left a message. I called back and left a message. They called and left another message and I called back. Then Covid. And I never heard back. At the one year mark, I cried and gave up. Done. Bug may be the only qualifying kid in the history of MAW that didn't even get a chance at a Wish.<br />
<br />
In the meantime, finances improved and we decided to take this on ourselves. We ALL would enjoy landscaping around the pool with consistent warm water and a gazebo in case we just wanted to chill. We found the heat exchange system we wanted, verified with the manufacturer that it would work with our pool setup and AC unit and found a lovely HVAC man to help do the AC install.<br />
<br />
Landscaper came within 3 days, we entered into contract within the week and he had time to do the landscaping in early June.<br />
<br />
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We ordered the heat exchange unit and it took 2 weeks to ship from Virginia. We offered to drive there. We finally received it about 3 weeks from ordering and Glenn began the install. Our HVAC man came out, looked at things, read the manual and thought it would work. That was the last bright spot.<br />
<br />
First: landscaping was moved to July 6th. An entire month away (not a big deal, more par for this course).<br />
Second: we can not find the part needed for the current AC so...we have to buy a new one (big deal).<br />
Third; the heat transfer control box may be mis-wired from the factory and we may have to send it back (big-ish deal).<br />
<br />
I can't make this up and find myself wondering: if I hadn't done this for Bug, would we have had ANY complications?<br />
<br />
Has ANYONE ever heard of Make A Wish LOSING a referral?<br />
<br />
And who the hell has to buy a new AC to replace a functioning AC (Although it's 15 years old now and probably has a limited life anyway) to get a pool heater working? And how many people get broken $1800 equipment?<br />
<br />
THIS is WTF Bug.<br />
<br />
<br />
<br />Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-26757021038800265542020-04-01T20:37:00.001-06:002021-04-25T11:21:39.731-06:00No Difference. Except...<br />
For our family, being home together isn't a big deal. We like each other as much as we love each other. I think. Bug loves hanging out with everyone so this COVID-19 thing is right up his alley in that regard.<br />
<br />
People have asked me if I am scared for him and they seem shocked when I tell them no. He's not physically fragile in nearly any way. Orthopedic, maybe, but his lungs, heart and kidneys are perfect so far as we know. He's never had an issue breathing except when they put in a feeding tube. Then his body overreacted. For THAT reason only we self-isolated as soon as there was ONE case in our state. NO intubation. That only makes him worse. That and my Mom lives with us and she has COPD and is prone to pneumonia so we take this seriously.<br />
<br />
<div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgB2K99zoLVdm_28x1ADS6DCK0tl4LcYyU3-e_pD2j-Gr2m3eJpmJRx1xCINKiNlhPzGhPkdcS4SdJxMfz3grIOO5Ks21phgG3_gwGC3gkWYraimc50khRkj_MiBZ2Z1_XIwfb-MIj3WRY/s960/14925419_10207902410014293_2782811130200543589_n.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="540" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgB2K99zoLVdm_28x1ADS6DCK0tl4LcYyU3-e_pD2j-Gr2m3eJpmJRx1xCINKiNlhPzGhPkdcS4SdJxMfz3grIOO5Ks21phgG3_gwGC3gkWYraimc50khRkj_MiBZ2Z1_XIwfb-MIj3WRY/w113-h200/14925419_10207902410014293_2782811130200543589_n.jpg" width="113" /></a></div>Whenever Bug has any kind of tubing put inside his body all hell breaks loose. He spikes a fever and the chase for answers begins. When I tell them 'it's the tubes' I get shrugged off. Right up until we pull the tubes and his fever goes away within 2 hours. Maybe next time we'll listen to Mom? We are doing our best to limit a next time, especially in the middle of a nasty virus.<br />
<br />
Today I finally got Bug logged in to his Google Classroom.<br />
<br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi0IFB4fOreu-nAnSDErwM09xyxPDfZDE4ySPrL5qV_vxud7LJTAjHTAPUc9iQxrHq6VHs2t9REc1n1F_jt2jpysOfxpQ2K_OgfHvtEZdjIAeMhbgLX4Qo8wMquWVDKIMuXKH2Cr4zobaE/s1600/google-classroom.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="800" data-original-width="1600" height="130" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi0IFB4fOreu-nAnSDErwM09xyxPDfZDE4ySPrL5qV_vxud7LJTAjHTAPUc9iQxrHq6VHs2t9REc1n1F_jt2jpysOfxpQ2K_OgfHvtEZdjIAeMhbgLX4Qo8wMquWVDKIMuXKH2Cr4zobaE/w200-h130/google-classroom.jpg" width="200" /></a><br />
Simple statement right?<div><br />
<br />
Nope. His three siblings have been logging in for a few days. They do their work and then have a rip-roaring day. I help them, when they need it, but each day they get better at working their way around the platform and the 80 different app options. Self-paced agrees with the Maughansters.<br />
<br />
Then there is Bug. I logged in and went to his work and read what I needed to read to him, and I tried to engage him to do the very simple work. On my iPad he would scribble, not caring what he was scribbling over on the page so all of the answers are wrong, but he did engage for a time. Win?<br />
<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjFHv30IQVW1i4t2uhIlYy-GxHI-rdS9TvMXNl7xqObAELEv9xOxz3xiR7v4o5zQr8o8dOwFimH9XDb1sgIzUzd3uvZXY3V_I1ErxKwgWQzB_wcFhIE6eR6Uoxy87Ys_T6nwGJaqt6kaVk/s1600/84541316_10216698324066647_4628053447302709248_o.jpg" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="1440" height="133" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjFHv30IQVW1i4t2uhIlYy-GxHI-rdS9TvMXNl7xqObAELEv9xOxz3xiR7v4o5zQr8o8dOwFimH9XDb1sgIzUzd3uvZXY3V_I1ErxKwgWQzB_wcFhIE6eR6Uoxy87Ys_T6nwGJaqt6kaVk/s200/84541316_10216698324066647_4628053447302709248_o.jpg" width="200" /></a></div>
By the time I got to the Chores worksheet, he was done. Bug can't do chores in our house. He doesn't understand them anymore. He used to help pick up the toys and bring diapers for his little sister. He would feed her and play with her and they would tag team the messes. Now, that's all gone. He can't follow direction and I am pretty sure he forgot how to unlock the dead bolt. Just in case, we have alarms on the doors we can't easily see. Knowing how incapable he is, they certainly can't expect me to give them anything other than the truth on how he contributes to the chores we do in our home.<br />
<br />
They asked for the students to perform 3-5 chores throughout this week. It's a good target for the rest of the Bug's class but for Bug...not so much. The top of the table are the days of the week, down the side are the Chores. So daily, I can write what he 'helped' with. I thought: this is going to be fantastic and we started strong.<br />
<br />
Monday: Make Bed turned into 'peed bed, washed all linens'.<br />
Tuesday: Set the table turned into 'knocked bowl onto floor'.<br />
Tuesday: Clear table turned into 'kicked dishes off table putting feet up'.<br />
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I laughed because it's Bug and what did they expect me to do? Ignore it? No way. And then I cried. I sat there with Bug's feet in my lap and holding one hand and I cried at the unfairness of this all. He is a very gentle young man, wouldn't intentionally hurt anyone but that isn't quantifiable is it? All of the students in his class can give limited answers and argue about doing the dishes or making the bed, but Bug doesn't. He is cuddly and sweet and he doesn't know right or left or help or hinder. We have a lot to be grateful for with him...but damn it...we also have the short end of the stick. He doesn't deserve this crap and it's when I see his siblings doing their own work and blowing the curve for the rest of their class that I miss him the most.<br />
<br />
Having them all home doing schoolwork just reminds me of how severe he is. It sucks and there is no chocolate in this house.<br />
<br /></div>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-56024826891316232732019-12-04T16:58:00.000-07:002021-04-25T11:16:57.787-06:00A pause in the Christmas SpiritThe other night was a good enough night.<br />
<br />
Good for Bug, he was happy and playful and just wonderfully himself. His sister received a metaphorical kick in the gut.<br />
<br />
She was talking to a friend who told her that she is the topic of some not-so-nice conversations within a group of kids. It started with her presentation two years ago during Epilepsy Awareness Month. She was a rockstar and a pitbull and did such an amazing Powerpoint presentation that her health teacher invited her to share with all of her classes.<br />
<br />
I try not to listen to her conversations but when she said:<br />
<br />
"I wish I had never done those presentations."<br />
<br />
It caught my attention.<br />
<br />
I asked her: "Why would you say that?"<br />
<br />
She said: "Because people make fun of me for it."<br />
<br />
The conversation continued and I explained to her that once you choose to be in a public space, such as doing a presentation on a subject that is the bastard child of the medical world, you open yourself up to criticism as WELL AS praise. As such, one must be prepared to accept both with grace. I've spent enough time advocating for the unspoken that there are few names I have not been called and few arrows that I have not deflected by simply not taking it personally. I pointed out that people that spend their time mocking others are a slave to it. They end up consumed with tearing down others so often that they forget that there is a joyful life that can be theirs. They spend so much time thinking about her while she hadn't spent one moment of hers thinking about any of them. In essence: SHE has the power because her life is her own and their lives, in part, are entrenched in hers.<br />
<br />
That got me thinking about the stones and arrows that have been thrown at Bug. This man who will never reject anyone unless they are physically hurting him. He is far superior to most of humanity.<br />
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Someone can be talking crap about him, saying the most horrible things and he will still reach out his hand to them. He will still smile if they smile at him. He doesn't care how evil their words are: he SEES the person. He may not be the loud voice calling for acceptance but he accepts people regardless of any physical attribute. He lives total and complete acceptance and unqualified love. He has never, not once, hurt anyone intentionally. His very presence has contributed to the happiness of others. It's not a stretch to say that he exists to help others be happier.<br />
<br />
So then I thought:<br />
<br />
I don't care what people say about him. I don't care that they call him dumb, or that they laugh at people feeding him or they call him other names when I am not around. He doesn't care AND he would still let them sit next to him so...why should I care? I care because I love him and he deserves respect for what he has been through and what he continues to struggle with, but ultimately, and this is the shocking part, if by laughing at him can help that person feel better about themselves then they are welcome to laugh. Of course I would prefer that they didn't, I would prefer they would see the wonderful person he is, but if laughing at him makes them feel better, then go ahead...he doesn't mind one bit. His life has been about helping others feel better. He's magic like that. Because I respect his life, I will not point out what disgusting human being those types of people are, I will simply turn around and walk away. These types of people have no power in our life and I will not let them take it. They have NO place in our world in any way, so why would I give them my time or my attention? Why would I even give them a second thought?<br />
<br />
I wouldn't and I won't give them any time of mine, not when I could spend it on better people.Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-11512154609066862852019-11-19T09:06:00.002-07:002019-11-19T09:06:18.837-07:00TriggeredI repeatedly tell people that life is not a competition to see who is the best or the worst, the happiest or the saddest, the sickest or the healthiest. It's about living well regardless and when we find ourselves comparing, then we aren't actually living well, we are altering our perception to fit a societal expectation. The term triggered has become a very negative term for many people and it devalues those that actually have a triggered response based on a very real and deeply-impressioned experience. And the difference between a legitimate triggered response and a contrived one is our perception and our perception only, isn't it? We can not, nor should we quantify someones response based on a triggered event using our own experiences and perceptions.<br />
<br />
A few examples of our triggers:<br />
<br />
Bug has seizure triggers. Very real, right? Not to be ignored unless we really enjoy watching him seize, which we don't. He is more likely to seize when his central nervous system has an insult, such as: injury, illness, severe temperature changes, sleep disturbances and immune reactions (specificialy tubing placed into his body to help him with various medical needs).<br />
<br />
I have emotional triggers that illicit a physical response and vice versa. These stem from a variety of experiences, life-altering experiences. Heparin sends me into a fight or flight response. It's annoying but I have learned to control it somewhat. This response comes from knee surgery when I was 15 that nearly killed me. Understandable? I was told they might had to cut off my leg in order to save my life, I was in SEVERE pain to the point that I asked them cut it off a few days later, I became dependant on Demerol. It was a shocking experience that lasted for several months, the effects of which linger to this day both physically and emotionally. As I said, I can control it but I do also explain to the nursing staff why my heart rate jumped when they flushed the IV. Physical response to a physical and emotional trauma. It does NOT control me though, I don't actually cry and scream and beg to leave, I just breathe deeply and wait for it to pass. No service animal required.<br />
<br />
I also experience emotional responses to situations outside of my control. So I understand the new and broad usage of the term 'triggered'.<br />
<br />
An example: <br /><br />This morning I took a happy Bug to school and I checked his backpack for papers. I found his report card.<br />
<br />
Normally, I just smile, because Bug is pretty severely impaired cognitively and I've learned to accept it; we get what we get and we are grateful for it. This time I checked his absences. It brought on a response I did not expect.<br />
<br />
Bug has a modified school schedule because of his seizure pattern. He will seize when he is first going to sleep and right before he wakes up. Sometimes he will go back to sleep after the morning one, most times he doesn't, if it's after 6:00am, before then, he's back to snoozing. Oft times, when we wake him up, his seizures go a little crazy until his meds kick in. After his Tethered Cord Release, so much changed with him (had to have affected his central nervous system, right?) that we tried to wake him up for Christmas last year. BIG mistake and it won't happen again. He had 3 seizures in less than 90 minutes after waking him. We learned our lesson and Bug gets to sleep as long as he wants and we deal with the impact of that. You can see how that can impact his school when he is supposed to be there by 7:30am. We changed his morning tardy time to 10:00am to accommodate. That means he isn't marked tardy until after 10:00am. This year he has made it before 10:00am nearly every day he attends. And I was curious to see how many days that actually was. I've been pleased with his attendance. He's made it a few times for the entire week which has been a rare occurrence in the past.<br />
<br />
28 days.<br />
<br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi_NChM3wVv6CeQfuDiA_nOd0urQzYkReUrePKXrSZD1kfpnNnmTdvpvAEEBWKZf_mPj2DOPczqcUPo4YjIpgKfnagxAes3Pbd31-JtSrKKaC3PNzOJmY_y2vBr1E1iNKPwI2-IN7klvew/s1600/IMG_1772.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi_NChM3wVv6CeQfuDiA_nOd0urQzYkReUrePKXrSZD1kfpnNnmTdvpvAEEBWKZf_mPj2DOPczqcUPo4YjIpgKfnagxAes3Pbd31-JtSrKKaC3PNzOJmY_y2vBr1E1iNKPwI2-IN7klvew/s320/IMG_1772.jpg" width="240" /></a>28 days he didn't make it an entire day. Out of 70+ days he made it better than 50% of the time. A full day is considered 5 hours. 10:00am to 2:30pm is NOT 5 hours. He will always be marked not in attendance on those days, which is his normal routine.<br />
<br />
That actually made me cry with sorrow. Why? I should be happy about making it THAT much since last year was a bust. He didn't attend more than 30 days total last year and he has already surpassed that in the FIRST semester this year. But, in the same period, Ava missed 7 days and Aiden missed 9 and their school was telling me they were missing too much and it was impacting their schoolwork. Both of them are working at or above grade level so...I laughed and didn't call back to set up a meeting the teacher wanted to have. They are doing fine. Let's not pressure them for attendance when they are doing their damn work. But Bug...<br />
<br />
As I was checking him in today, at 9:14am, he dropped his car that he was spinning. There was a lovely young lady signing herself in at the same time, she saw him drop it and IMMEDIATELY bent down to get it. I beat her to it because it fell away from her but DAMN what a fine young lady who smiled at Bug and said Hi. Cue the emotional trigger brought on by a good human.<br />
<br />
Bug is not typical. He was. And now he is not. Not only is he NOT typical, he's not even close to being able to be held to that standard. That fact, is profoundly difficult to reconcile when reminders are constantly around me, reminders that I have to sign off on. That is how this entire sadness started this morning: signing off on Ava and Aiden's homework. It's a constant reminder that one of my children is not like the others that are exceptional. It hurts and I am trying to accept it and make it part of my typical response.<br />
<br />
Bug is exceptional in his own ways: he never gives up and NEVER lets anything keep him down for very long. He is strong and yet, that is also just reflex. He doesn't know he CAN stay down.<br />
<br />
I handed him his toy back and held the door open for his aide to take him to class. She pushed him down the hall while he was spinning, getting smaller the further away they travelled. He didn't turn around once, which tells me that he enjoys school. I think. I walked back through the office and out the door, passing another young man, another typical young man on the way out. A young man that thanked me for holding the door for him and I cried all the way home.<br />
<br />
There you have it: our triggers and all based on the experiences in our world. I'm not ashamed to admit it, I have a strong bond with my children and, of course, I empathize for them. Causes me some tears. Most people can understand this response, at least I'd like to think they can. So please, take it easy on people when they talk about what triggers them and maybe be a little more understanding? Put your perceptions aside and step into their world and truly try to understand their sadness and their passion, and the same goes for people being triggered over seemingly mundane things: look around you, beyond you, and see others and their journey. Take a deep breath and learn to focus on living well, not complaining well.<br />
<br />
<br />Unknownnoreply@blogger.com2tag:blogger.com,1999:blog-5751138515328728534.post-67287303776344382862019-11-14T11:13:00.002-07:002019-11-14T11:13:58.419-07:00What changes have comeMy friend Patty called me yesterday and I started a blog post immediately after. This happens somewhat regularly between us and sometimes it leads to amazing things. The first time it happened was nothing short of a miracle in the making. This time it could lead to someone else's miracle.<br />
<br />
Patty posted on Facebook about GAN. <span style="background-color: white; color: #1c1e21; font-family: , , , ".sfnstext-regular" , sans-serif; font-size: 14px;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=643" target="_blank">Giant Axonal Neuropathy</a> </span><br />
<blockquote class="tr_bq">
<i><span style="background-color: white; color: #1c1e21; font-family: , , , ".sfnstext-regular" , sans-serif; font-size: 14px;">"</span>Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases."</i></blockquote>
This is Bug. I kid you not, these are the symptoms he was experiencing. For those of you not wanting to click the linky link:<br />
<blockquote class="tr_bq">
<i>"Clinical hallmarks include progressive gait disturbance (frequent falls due to muscle weakness, sensory neuropathy and ataxia), everted feet, crouched gait, tightly curled hair, and early-onset central nervous system (CNS) involvement, including pyramidal and cerebellar signs that, when present together almost clinch the diagnosis. Patients usually present with intellectual disability, epilepsy, nystagmus and dysarthria that worsens in the second decade of life, and mortality typically occurs in the third decade. Other clinical signs include facial weakness, optic atrophy, ophthalmoplegia, skeletal deformations (e.g. foot deformities, scoliosis) and tremor. "</i></blockquote>
Here's the rub: Bug began toe-walking around the age of 11. Before that, he was flat footed and very, very active. It took two of us to keep him in the exam room at his Doctor visits, he was just that go go go all the time. The video below was taken when he was 7 and you can clearly see he was completely flat footed. And then he wasn't. We attributed the calmness to maturity and the addition of <a href="http://isthisbug.blogspot.com/2012/05/about-folate-deficiency-in-da-bug.html?q=CFD" target="_blank">Leucovorin</a> to his protocol. (The follinic acid in ASD patients can all but cure the ASD traits in some patients. If you have an ASD diagnosis...get the <a href="http://iliadneuro.com/information-on-frat.html" target="_blank">Folate Reductase Autoantibody</a> test, please!)<br />
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But what didn't make sense was the sudden onset of the toe-walking and his feet turning outward while rotating under. By the age of 14 he was literally walking on the side of his right foot. Not one Doctor could tell me why. No one listened to all of our descriptions and put them together. NO ONE. But Patty.<br />
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Patty isn't a Doctor. She is a Mom to two rare girls. She formed Beyond the Diagnosis and advocates for rare diseases and parent partnerships. She has been doing advocacy work for the right reasons: to help others avoid a lifetime of unnecessary misery. Without her own experience, Bug would probably be dead. Yes, I can say that openly because it's true. A body can NOT seize every 7 minutes for very long without permanent damage and death. We were headed there. <a href="http://isthisbug.blogspot.com/2017/04/so-this-is-interesting.html" target="_blank">The seizures</a> and other symptoms Bug was having were very weird and very concerning. No Doctor knew what to do so I turned to the internet and Facebook. Patty was the only person that made a connection. Another parent, imagine that?<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjWrWrByWZato4K6sBdUig4KHdbBuJjImf1VnoG8zgjyayt8WvJyGsV_YjFupm56VgesAWOEh6sCxJt4vd7Qa2r1ZO25C_sXm1zB2O9eNB5Rz-S5BaghdxHxSwCrfKGbiXOik2bPINnUck/s1600/59431172816__67C49CC8-8E80-4C3B-B2CD-37A22CC02F88.JPG" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjWrWrByWZato4K6sBdUig4KHdbBuJjImf1VnoG8zgjyayt8WvJyGsV_YjFupm56VgesAWOEh6sCxJt4vd7Qa2r1ZO25C_sXm1zB2O9eNB5Rz-S5BaghdxHxSwCrfKGbiXOik2bPINnUck/s320/59431172816__67C49CC8-8E80-4C3B-B2CD-37A22CC02F88.JPG" width="240" /></a>When she led me toward Tethered Cord, I IMMEDIATELY<a href="http://isthisbug.blogspot.com/2017/04/insecurities-what-do-you-think.html?q=tethered" target="_blank"> recognized Bug's symptoms</a>. We were seeing some of the best of the best at Johns Hopkins and Primary Children's and they didn't connect the dots, they did what the KNEW and that was writing prescriptions and doing surgeries. Those mask the symptoms, they don't cure the underlying problem and in Bug's case that was tethered spinal cord.<br />
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When I read about GAN I couldn't help but wonder how many of those patients have a tethered spinal cord? I can understand diagnosing the patients with the genetic mutation with GAN but even then...would a cord release help? The symptoms are too similar to ignore. And the clinical presentations, occult tethered cord HAS to be investigated first. Because what the tethered cord release did for Bug has been amazing.<br />
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His quality of life hasn't been this good <b>and this stable</b> since he was 4. He's learning. Slowly of course, but he IS learning and everything relating to him has been made easier. He helps with his self-care whereas before the cord release, we had to do everything for him: even lift his arms to put his shirt on. The improvement has given us part of our Bug back. It's something I want for everyone who is experiencing this symptoms. <br /><br />I look back on this blog and cry over the misery <a href="http://isthisbug.blogspot.com/2016/09/eses_30.html" target="_blank">he went through</a> that he didn't need to go through.<br /><br />
I'm a broken record but I've seen what the right diagnosis can do and it's all about good medicine, about getting it right. If the Doctor can't provide that type of goodness then I will evangelize it myself with a small army of Parents beside me. I will add my voice to the countless others that have become medical advocates because of the luck of the draw. If you are reading this and you have any of these symptoms:<br />
<ol><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjc3oje029W3DSq6_KCkUk8m2ssX1Md_nzZ_Yp1dGnrGNDuy1P7q1Qtk5iqEyAeRhMLg9vo7VwIen9TEljU2Zl2Be3dQgjV7G3xUloobSkcVtDlD4odzR-mUFykm1J3rA06czH0WALxDlw/s1600/02F3518F-2F0D-4051-AC93-1220A96309BC.JPG" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1600" data-original-width="900" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjc3oje029W3DSq6_KCkUk8m2ssX1Md_nzZ_Yp1dGnrGNDuy1P7q1Qtk5iqEyAeRhMLg9vo7VwIen9TEljU2Zl2Be3dQgjV7G3xUloobSkcVtDlD4odzR-mUFykm1J3rA06czH0WALxDlw/s200/02F3518F-2F0D-4051-AC93-1220A96309BC.JPG" width="111" /></a>
<li>Lesions, hairy patches, dimples, or fatty tumours on the lower back</li>
<li>Foot and spinal deformities</li>
<li>Weakness in the legs</li>
<li>Change in or abnormal gait including awkwardness while running or wearing the tips or side of one shoe</li>
<li>Low back pain</li>
<li>Scoliosis</li>
<li>Urinary irregularities (incontinence or retention)</li>
</ol>
Get an appointment with an actual NEUROSURGEON and get examined for tethered spinal cord. Delaying will cost. Bug has been through hell and continues to live with the complications of having a tethered cord and there is NO reason you should have to as well.<br /><br />Now you know...do something about it.<br /><br />Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-29675903258497902382019-10-21T10:22:00.000-06:002019-10-21T10:22:36.061-06:00Noise?We are lucky in many ways.<br />
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One: Bug isn't prone to outbursts and aggression. As big and STRONG as he is, that would not go well at all. I shudder to think about what we would do.<br />
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Two: We have 3 adults in this house that can lend hands and the little Maughansters are pretty good at helping as well. Most people don't get that and they would be in a really difficult place with someone as heavy as Bug.<br />
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Three: Bug is magic and people start out wanting to help him. And that helps us help him. (Ya, I'm confused too...let's just roll with it).<br />
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Four: We have a wonderful geneticist that we see twice a year. For now. Most people get a diagnosis and never go back, why would they need to? They have an answer, the tale I am about to share has a moral: there should be SOME follow up. We started out that way, and then we met our wonderful Dr.<br />
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<h3>
<b>Wednesday, October 16th</b></h3>
Bug had a hearing evaluation and ENT visit. He 'passed' the hearing test(uh huh) after the Audiologist detailed exactly the opposite of what I was told last year. Again. This happens EVERY DAMN TIME Bug has a hearing test. EVERY TIME. We are told one thing and then either the ENT overrules it or the medical record states otherwise. I almost cancelled this appointment entirely. I'm tired of this hearing/not hearing/but-no one-knows-why-he-doesn't-speak conversation. It's frustrating and, frankly, I don't have the fortitude for it anymore. I leaved depressed and hopeless. We finished the test and we walked to 'the patient room'.<br />
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This speech journey is the one trait of Bug's that is the hardest to deal with. Yes, the epilepsy is, by far, the worst thing he has but I can deal with that fairly well, it's emotionally difficult but not like the lack of communication. EVERYTHING is more difficult when Bug can't tell us how he feels, or what he wants, or <a href="http://isthisbug.blogspot.com/2019/05/nonverbal-noninformative.html" target="_blank">what hurts</a>. The pressure to make the right decision on his behalf is unbearable. It leads to many nights in tears and many more hours scouring medical sites and research papers because he can't guide us. Add to that our experience with the hearing tests, ENT's and the like and I think people will understand my hopelessness in this aspect.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgyRcZUhRVG5UVEPcFTEHl27lanmMMhA0A4fmMrqJUEX_bXt6LdmX8O_YdgOyvL4pmwyeAqYOSSPDP6khrdol9V7PVQPwLGPFCs-WVP_1EoZeOGQVaLa9YFVC-pATLrCDpTLgguKgEfCWU/s1600/IMG_1507.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgyRcZUhRVG5UVEPcFTEHl27lanmMMhA0A4fmMrqJUEX_bXt6LdmX8O_YdgOyvL4pmwyeAqYOSSPDP6khrdol9V7PVQPwLGPFCs-WVP_1EoZeOGQVaLa9YFVC-pATLrCDpTLgguKgEfCWU/s320/IMG_1507.jpg" width="240" /></a></div>
He can hear, and we know that, but we have had test after test after test and each time there is a different result. And each time I sit in that quiet room with padding and equipment and shake my head while trying to stay positive. But this is what happens each time:<br /><br />Bug does NOT respond to most of their sounds until they flash the picture. His eyesight is perfect and things that flash interest him so how do they KNOW it's the sound and NOT the image? Good question. They think that because when they do it again, with no picture, (but after the 3rd repeat of the sound) he will look over, that means he hears them. They take that as a positive response, and I take it as he's just looking around for the picture, he ANTICIPATES it's the thing to do or he's bored and looking for the way out. <br /><br />Hearing tests with a nonverbal kid are all smoke and mirrors. For as many times as an Audiologist can get him to eventually respond, he DOESN'T respond 4 times more often. How is that a positive test result? 1 in 4 times he looks toward the sound AFTER an image is displayed, never before. I've watched no less than 7 hearing tests in 13 years and each test has gone like that. EVERY ONE. Every one with a different outcome. And we KNOW that the first 3 hearing tests he could barely hear because he had so much fluid and scar tissue in his ears there is NO way the sounds were clear. That reminds me of THE biggest stumbling block: his messed up Primary Children's ENT records.<br />
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I've had this same, exact discussion for 13 years. 13 long years of praying something would be found that we could fix and I would hear my boy tell me that he has a headache, or he is hungry, or as a child outside our door declared: I pooped! But the really really big one: I think I'm going to have a seizure. 13 years of being <b>told</b> the<a href="http://isthisbug.blogspot.com/2018/08/whats-that-you-say.html" target="_blank"> test</a> was abnormal and then reading that it was either 'within range' or not his record at all (Primary Children's Audiology included someones elses surgical information in Bug's record, How do we know it wasn't Bug's? Because they also included family history and Bug is NOT on Advair and his Maternal Grandmother is very much alive and did not die from heart failure). So when I tell other ENT's that Primary Children's told us he had scar tissue behind his ear drums that made it difficult to insert his ear tubes, they tell me they can't verify that and that a CT scan of his ears is not needed. <b>This</b> has been more than problematic. It undermines their trust in us.<br />
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Remembering all of this put me in a depressed mood. Hope. Dashed over and over through no fault of our own.<br />
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At one point, the PA entered our room and talked to us about what Bug was experiencing and what my perceptions of his actions meant. I'm good, but I'm not perfect ,so I took a guess and while I was talking, I almost started to tear up.<br />
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The PA and I talked for several minutes and then she asked me:<br />
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"What to do you hope to achieve with this appointment?"<br />
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Without thinking, I sighed and uttered this visceral response:<br />
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"Absolutely nothing. I've completely given up that I will ever get a consistent response from him. I've given up ever hearing him call me Mom. I want nothing from this, and in fact, I almost cancelled because I just don't see this getting any better. I really want nothing."<br />
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The look on her face said: Damn. That's sad.<br />
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I didn't mean it to be sad, I was simply relaying the truth; I have given up on communication with Bug. I can't get hopeful again. I told her I had given up before and then we got the KBG Diagnosis. KBG brought hope back because nearly 65% of patients have some type of hearing loss that can be remedied and usually stems from inner ear malformations. We were told 3 times that Bug had 'inappropriate' middle ear response only to have the ENT tell us they didn't see that in his results.<br />
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30 minutes or so later, I heard the PA and the Doctor talking in the hall. I didn't hear details but I heard enough to know they were talking about Bug. My heart sank. I was close to meeting the Doctor and having that discussion all over again. I took a deep breath and snapped a picture of Bug to keep me occupied.<br />
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The Doctor entered and said something about the hearing test and how he couldn't be measured above 4K hertz because he pulled it out. Problem though: I was there the entire time, he pulled it out once and then left it in to finish the test. The Audiologist told me she was able to complete the test. And yet, here we are again: Audiologist saying one thing, ENT saying another.<br />
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Starting strong.<br />
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She detailed what the meant, or didn't mean and then said:<br />
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"I think he has <a href="https://en.wikipedia.org/wiki/Auditory_neuropathy" target="_blank">Audiological Neuropathy</a>."<br />
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Ding. I then began paying close attention.<br />
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She mentioned that the next time he was sedated we would do an Automatic Brainstem Response. Thud.<br /><br />I thought: AGAIN? But she continued, obviously unaware that he has had 2 already. He had one at <a href="http://isthisbug.blogspot.com/2010/01/abr.html?q=ABR" target="_blank">Primary Children's that showed he was missing a few sound waves</a> (yet the ENT thought it wasn't a big deal and <a href="http://isthisbug.blogspot.com/2010/03/ent-follow-up.html?q=ABR" target="_blank">probably just fluid</a>) and one at Kennedy Krieger that was supposedly, normal. But I never heard that from anyone OTHER than the rehab lady. No Doctor explained it to us, just a lady helping create a new IEP for the school. I've asked and no one can find it. Figures, huh?<br />
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I mentioned that he may be having an endoscopy for his stomach and if he does, we will copy her office on the scheduling and we can do it all then. She told me that was perfect and that cochlear implants were a possibility. My stomach dropped with that news. I should have made me excited BUT <a href="http://isthisbug.blogspot.com/2017/10/tethered.html" target="_blank">Bug's body rejects anything left in it</a>. He develops a fever and as soon as we remove the object the fever goes away. Would a cochlear implant make him react the same?<br />
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She also wants to refer him to <a href="https://www.gbmc.org/pediatricspeech" target="_blank">GBMC for speech</a>. She explained, with great enthusiasm, that she has seen them do wonders and she felt he would benefit.<br />
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Mixed hope is what she laid at my feet and we left wondering if we finally fail the ABR once and for all maybe he will be helped? Maybe he will hear clearly and not muffled like we suspect? Then I realized: He'll probably pass with flying colors and we will get nowhere. Hope dashed by my own head. By my over a decade of experience.<br />
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<h3>
Friday October 18th</h3>
We saw the good Geneticist for our year end visit, after having to reschedule because of illness and Bug was actually even able to be measured for height (5'2) and weight (137 - bwah ha ha he must have been lifting a leg because NO WAY did he lost 30 pounds). I planned on just updating the Doc about the incidence rate of KBG Syndrome and a few other newly discovered traits with a strong possibility of being a marker for KBG, which is what we talk about usually. I didn't even bring up numbers because he was so pleased to see Bug doing so well.<br />
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Bug was spinning his toy and was very happily making eye contact and smiling at us. To me, he was Bug, as I remembered him and as he has become again. To the Doctor, he was new Bug, with good progress toward improved quality of life. We talked about possibilities.<br />
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I don't like to talk about possibilities, because possibilities mean hope. Hope in ways that most normal humans can't see the negative in. But believe me, hope can be as dangerous as it can be beneficial. There is an emotional price to be paid whenever that hope is not realized, and usually, the one that pays the highest price is me. Only because I get very invested. Yes, I have also had hope that paid off that debt and I focus on that, but there is also the opposite, and I really don't want to pay that again. Especially with this hearing possibility hanging there.<br />
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It's been almost 6 years since we ran Bug's exome for the hell of it (it feels like that when there is no treatment for what you discover), and the good Doctor thinks we should do it again.<br />
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Bug has the <a href="http://isthisbug.blogspot.com/2015/06/number-61-conversation.html?q=61" target="_blank">mutation in ANKRD11</a> but he ALSO has 7 more mutations that may or may not mean anything but at the time they were discovered in Bug, medical science didn't have any detailed tests associated with those genes so we just set them aside. We focused on ANKRD11 (which is clearly, and for those in the back that don't have something to gain with claiming otherwise, a <b>KBG</b> diagnosis) and went about our business of helping others live with this same diagnosis.<br />
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But now, in 3 months, if Insurance will cover it (and even if they don't, I will have a bake sale, or sell my jewelry or whatever I need to do to pay for it) we will be running his entire exome again through GeneDX. Entire exome. Cool. As soon as he started explaining that he thought we should to do this, I broke out this stupid grin and kept it frozen on my face the entire time. I am sure I looked like a massive, smiling idiot, but I am curious as well as he is, to see if we can find an epilepsy gene with a mutation in it and the possibility does excite.<br />
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SO much has changed in the nearly 6 years that I can't help but be excited. I've thought about it every day since he brought it up. Bug is so damn atypical in ALL of his diagnosis EXCEPT the Cerebral Folate Deficiency, that it's baffling. UNLESS there is something that ties them all together.<br />
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But can we find it?<br />
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I'm betting not without a massively awesome round of WTF Bug?. And we wait. For January. Sigh.<br />
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See what I mean about hope?<br />
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<br />Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-17948599301791111402019-06-02T18:02:00.000-06:002019-06-02T18:02:08.846-06:00Sometimes it just hurts<div class="separator" style="clear: both; text-align: left;">
It’s a known fact that parents of children with different needs are a unified and somewhat annoying breed. Annoying in the best ways though: they are informed and they are advocates for their children in ways no parent should have to advocate. I’ve had to beg for an X-ray and an enema. We are as strong as we need to be and sometimes that is as close to superhuman as mere mortals can get. </div>
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Mostly, as the children age, they become heavier and their personalities develop further. Helping Bug feel better and get stronger has been a dream come true and a dream with so many aches and breaks I can not define them all.<br />
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Bug weighs 160 pounds, roughly, can walk but is wobbly, and has the mind of an infant. He physically can do what any other 16 year old can do, he just doesn’t have the mental capacity to carry it off without guidance. That’s where we come in. He doesn’t have a nurse or anyone else to help him: he has me, Nana and Dad.<br />
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The past few years have been a wonder of examination and discovery followed by solution and recovery! Bug is more stable this last year than he has been in the last 7 years. It’s glorious. I wish I could say the same for myself. I’ve aged and not aged well. I can list what has damaged me but suffice to say I have constant pain. My knees are shot. My back and neck are damaged and unless I lay out money I just can’t justify with a houseful of kids, I take my ibuprofen and pray for good days. My prayers have turned from calling on Bug to thrive to praying I can keep up with him. It’s wonderful and sad.<br />
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Today I can’t. Today, I am experiencing so much pain we broke out the ice machine and I medicated until my stomach revolted. That meant that Bug, who wanted to go into the pool with his Dad and his siblings, had to sit inside with me. I can’t manage him down the stairs and in the pool. If we can’t tag team in the pool, then both of us are in pain instead of just me. Glenn has back issues as well. Welcome the the world of parenting a child living in an adults body. If I were stronger...<br />
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We have this lovely house and I can’t make it our own because I can barely walk some days. I look at this great yard, the one with stairs to and from the pool as well as the worst part, the hills, and I instantly ache. I know the pain that is involved in me going down hills, and I just couldn’t do it today. I just couldn’t deal. Today I was weak. And that emotionally hurts more than the physical pain.<br />
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He’s sitting next to me spinning and smiling, with his legs over mine (yes it hurts but I don’t care) and I know it doesn’t bother him because I am here with him. But it hurts me to know that I am holding him back for the first time in his life because he’s healthy. It just hurts.Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-35411545795112644272019-05-19T18:48:00.001-06:002019-05-19T18:48:44.947-06:00That dreamEvery parent to a child with intense needs ends up having two dreams:<br /><br />1. The dream of perfection<br />
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That dream holds all the hope you had when the pregnancy test was positive: this child would fulfill a dream and succeed where you could not. He/she would be your superior, in time, there would be joy and pride and so much hope for the future. In this dream your fragile child runs and climbs and talks in the most amazing voice, declaring their love and devotion and thanks. In this dream, there are grandchildren at your dinner table, whose food is being lovingly cut into smaller pieces the same way you carved all those years ago. There is health and strength and humanity.<br /><br />It's a dream that is both wonderful and terrifyingly sad. And you are left drained emotionally, clutching your sleeping child in your mind, sometimes in your mind only.<br /><br />2. The dream of finality.<br /><br />That dream follows you all of your days from the moment you know your child has a limited shelf life. Whether the diagnosis is fatal or not, that dream does creep in during the bad periods, and sometime even when everything is seemingly fine. Because randomly, something will remind you of the future; that thing you eventually forget to acknowledge, the potential that the future is not a happy ending. And your dream is being told your child is gone, planning that funeral or visiting their grave. That dream is terrible and yet, one day you will have it and you will wake up not sweaty, not panicking, not wanting to run and check for breath. You will slowly waken and sigh and think: when will this happen?<br /><br />And the guilt will take your breath away and leave you feeling like you have failed, feeling like if you don't cry over this worst of the bad dreams then you must not love your child the way he/she deserves. But the reality is that you have been hardened, you have accepted that you will probably outlive your own child. It's terrible, the absolute worst thing you can imagine, and you have accepted it! What kind of monster does that?<br /><br />The monster that is living with a sick child: that beautiful person that would lay down and die for their child the day after climbing the highest mountain on earth for that same child.<br /><br />It does not mean you are a bad person, it means you are adjusting to a nightmare.<br /><br />I've had those dreams, and I am not sure which one is actually worse.Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-78427215422201180562019-05-14T17:42:00.002-06:002019-05-14T17:42:13.636-06:00Rough DayNot a rough day for Bug, he's having a good day. Well, a good enough day. One seizure, that we missed, but his postictal is something you can not overlook: confused, drooling, motor skills limited and, we think, hallucinating. He acts like he is spinning something on his finger but nothing is there. So, is he stuck in a happy memory of spinning or is he sure he is ACTUALLY spinning something? Hard to tell. This time I knew he had seized because when I entered his room he was breathing heavy, had drool down his cheek (he was laying on his side when he was drooling) and he was confused. He snapped out of it quick enough to take his pills and to come down the stairs on his own 30 minutes later.<br /><br />He is walking so much better and is more stable than he has been in years. Hooray for finally healing and getting stronger.<br /><br />Today was rough because of the Women Tech Council. You see, that was me once upon a time, and I thought that once my children were older, I would get back into it. That was before Bug's seizures. Still, after my tenure with the EAU was over I thought I might be able to get back to it.<br /><br />But we had to move to get the job that the old man deserved. Which meant I left everything and everyone that was our support system and could have helped me get back there or at least progress further. Still, at the time, I didn't look back and I didn't lament because it's been a great thing for the Big Dog. Really great.<br /><br />Today got me though. I see women getting pats on the back for running tech teams and I miss that life. A life I will never be able to have again. It bugged me today. Why? I have no idea. Maybe it's all the work that needs to be done around the house and I don't have the time, the health or the funding to pay someone else to do it. It's completely selfish and the guilt I feel for having this emotion is overwhelming.<br /><br />I take Bug to school in the morning and it physically hurts. I have these herniated discs in my lower back and they are putting pressure on the nerves causing sharp pains in my legs. I have a new appreciation for the pain Bug MUST have been experiencing <a href="http://isthisbug.blogspot.com/2017/04/on-living-low.html" target="_blank">before his tethered cord release</a>. These discs of mine are so problematic that when I get up in the morning and put my feet on the floor I have sharp pains in my tingly feet that I have to grit through and stretch out so I can walk and actually feel them. The discs that are damaged in my neck means my hands are tingly and this morning I realized I have muted feeling in my back. I had an itch and as I scratched, I realized I didn't have complete feeling in that area. That started this pity party.<br /><br />Then I picked up Bug from school and he didn't want to help get himself out of his chair. Which meant the improvement I had by taking it easy, was rendered useless when I had to physically move him from the chair to the car. This happens every day he goes to school for the last year.<br /><br />I then saw the story about the Women's Tech Council and all I could think about was what I gave up. Not only did I give up who I was when Bug started seizing, but I now have destroyed parts of my body as well. I did find an advocate inside me. A pretty good one I've been told. But lately, I feel like it wasn't me at all, but the people around me. I've peaked.<br /><br />Selfish and I will stop soon, really soon, meaning dinner time. But DAMN. It's depressing. This house is not set up to help either Bug or myself and I can't make it better right now. I have to get stronger. It starts with the Doctor visit I have tomorrow. Wish me luck. I need something to help. :(Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-35536282569596606462019-05-07T11:06:00.002-06:002019-05-07T11:06:28.667-06:00Nonverbal = Noninformative<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiia6tN8_abmUte5HeZ-gdRx5AKGXa03g6dL5kOq87Oz1o15Sxd0nue8U7x4r_EebIZTgEzOEyOKz4Mh6FxdWN0_ktuIUe3Pt0S03o9VFnz-YXoigT_kJrygs9h7NrKwjaHtOWWYKocG1E/s1600/IMG_0253.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiia6tN8_abmUte5HeZ-gdRx5AKGXa03g6dL5kOq87Oz1o15Sxd0nue8U7x4r_EebIZTgEzOEyOKz4Mh6FxdWN0_ktuIUe3Pt0S03o9VFnz-YXoigT_kJrygs9h7NrKwjaHtOWWYKocG1E/s200/IMG_0253.jpg" width="150" /></a></div>
Getting the Bugster ready for school today and took his shirt off to find a nasty bruise that was not there yesterday morning.<br />
<br />What the actual hell?<br /><br />I could ask him (that's a bad joke) but with Bug, nonverbal means he has NO communication at all. And some KBG Syndrome patients have a super high tolerance to pain so they don't really register discomfort at all and severe pain is just something to walk off. It breaks my heart. Nearly literally. I can't help my son. I can only hold him when he wants to be held and speak for him when it is time to be heard. But I can't decipher what caused this.<br /><br />He's been having seizures while awake and has hit the table a few times while seated at it, but I don't recall any of them hitting his shoulder at all let alone hard enough to cause this. He's been on the couch or in bed every other time, once maybe twice a day with a bad day of 6 not too long ago. So again, without him to guide us, we have to ask:<br /><br />What the actual hell is this that we live in?<br />
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I can take him in for X Rays and make sure nothing is broken, but he is using it, and he isn't limping with a arm down like he did when he broke his collarbone so chances are his bones are intact. He doesn't like it touched but it's a bruise so that stands to reason. When I find bruises on him, my world stops and I replay his actions and his seizures looking for any clue as to what happened.<br /><br />I used to cry and hold him, when he was little, and beg him to tell me, I would look him in those big blues eyes and BEG him to talk to me. He never did. He used to follow some direction but that's gone now, gone and never to return it seems.<br /><br />Not knowing when he is in pain, not knowing when he is upset, not knowing when he hungry or cold or warm or million other things is the single most difficult part of living with Bug. I can't convince him to talk or to point to anything, and people don't understand just how delayed and impaired he is in this regard. They don't understand that I can't just get him to do anything he doesn't WANT to do. Physically, it's getting very difficult to manipulate him if he doesn't assist me. He weight nearly 160 pounds, I'm just over 170 and while I can still carry him if needed, I can not make him move if he doesn't really want to. He can best me and that could be a very big problem if he wasn't so affable. When I think about what it would be like if he was dangerously impulsive still...<br /><br />There is an upside though: he will never know that society thinks less of him. Small consolation huh?<br /><br />I hate this nonverbal world.<br />
Losing faith in the verbal one too. :(Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-35284055639435419552019-02-01T16:08:00.001-07:002019-02-04T13:44:31.162-07:00Empowering truth and wishes<iframe allowfullscreen="" class="YOUTUBE-iframe-video" data-thumbnail-src="https://i.ytimg.com/vi/_YISTzpLXCY/0.jpg" frameborder="0" height="266" src="https://www.youtube.com/embed/_YISTzpLXCY?feature=player_embedded" style="clear: right; float: right;" width="320"></iframe>There's this <a href="https://news.microsoft.com/?utm_source=yt&utm_medium=organic&utm_campaign=cmg_as&utm_term=desc" target="_blank">Microsoft</a> Commercial that just does me in. Every time I see it, I start out smiling and even say: Hi Grover! And then I wonder at what age does one stop counting half years. I don't say: Hi I'm Annette and I am 49 and a half. When did that change?<br />
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As the commercial goes on, I begin to cry. It's a happy cry at first, because the people in the commercial are lovely and what they are talking about is wonderful! And then...Owen's Dad kills me. Dead. Why?<br />
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Bug will never use this super cool inclusive device. He will never get excited about going to Disney World. He will never ask how many days until his birthday. He will never CARE that he is not included. Not even in that moment does he always show excitement for something joyous for everyone else. He does like to ride roller coasters and it will make him smile but nothing builds up to that moment...it's just another joyful moment mixed in with seizures, and the diaper changes and the begging him to keep his feet flat.<br />
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I don't know if the seizures caused this, or the <a href="http://www.kbgfoundation.com/what-is-kbg-.html" target="_blank">KBG</a>, or the <a href="https://jamanetwork.com/journals/jamaneurology/fullarticle/803103" target="_blank">Cerebral Folate Deficiency</a>, or something not yet identified, but he USED TO get excited when he saw wrapped presents. He used to open them with great anticipation and then go get another and then another. He would go trick-or-treating.<br />
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People have told me that he deserves a Wish. They tell me to choose something for him and submit to the wonderful <a href="https://wish.org/" target="_blank">Make A Wish</a> folks. It's not the same for me. I have LITERALLY no idea what would be a dream come true for him. So then they say: wish for something for the entire family. I just can't. I can't. I want Bug to tell me. I want to know <b>what </b>my son enjoys because I don't. Each day that possibility becomes more elusive.<br />
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Bug is doing pretty well, his seizures picked up a little, up to 3 in one day, but then calmed back down. Only now they are happening during the day and they are lasting a little longer and slightly different type. He had one yesterday that took him a long time to fully come around, almost 20 minutes, and we wonder if he was seizing that entire time. Last night he didn't sleep well, in fact, he hardly slept and today he has been napping with no seizures. We think, he may be getting the flu. Daddy brought that gift home from his last business trip. <br />
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We also think we are seeing more awareness from Bug, we think he is learning, but I can't bring myself to believe it fully. It's been too long and there have been too many damn seizures. That hope for progression is slowly being replaced by the knowledge that we will outlive him and, heaven forbid, if we don't. No one will take care of him, no matter what we put in place, this world just doesn't take care of its disabled population with respect. And I don't think his brother and sisters will have the ability or the compassion to be his caregivers. He's just too big. The simple fact is: Bug doesn't interact, and it's difficult to build a meaningful relationship when you are used to give/take and all you do is give with nothing given back. He does not cultivate relationships or nurture them in any way. He spins things. That's what he does.<br />
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There is a girl at school that is sweet on Bug. He smiles at her, so I hear, but he doesn't otherwise interact. She helps push him outside to the car and she smiles at him and touches his shoulder to say goodbye. It's the sweetest thing ever and she is a doll. A very sweet girl and I love her without even meeting her. Does he even realize she thinks he is the cat's meow? Does he realize she is sweet on him? No. He doesn't. <br />
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People ask me how I can say that...how do I know? That's so cruel. I'm his Mother. I have spent almost every day of his life with him. There have been less than 20 days total in the last 16 years that I haven't held his hand or changed his diaper at least once. That's how I can say I know he doesn't know. It's not cruel to speak the truth, it may hurt to hear it, but it's not cruel.<br />
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It's been a rough few years and it doesn't seem to be getting much better, but we do try to have a good time. If I can just avoid these damn good commercials advertising positive stuff.<br />
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<br />Unknownnoreply@blogger.com2tag:blogger.com,1999:blog-5751138515328728534.post-8550723766856016322018-12-24T08:31:00.004-07:002018-12-24T08:31:53.681-07:003 Months in Hell<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjGb382NntEoccIed-XY0Yppq4E7LUEqQ9xqNUZRf407SVKJxZ1xr6PxBqrdQopSwTeRDDsl56V37WPeOBPOqd6ChoFHvkrUltVdBgLR7RqxYzPn0EVy3IXybynd4XNyiobSc90Hkj4oSg/s1600/IMG_9043.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjGb382NntEoccIed-XY0Yppq4E7LUEqQ9xqNUZRf407SVKJxZ1xr6PxBqrdQopSwTeRDDsl56V37WPeOBPOqd6ChoFHvkrUltVdBgLR7RqxYzPn0EVy3IXybynd4XNyiobSc90Hkj4oSg/s200/IMG_9043.jpg" style="cursor: move;" width="150" /></a></div>
I think we can safely say that this Christmas looked promising...in September. Bug's foot surgery went well, he was recovering nicely and his feet were almost at neutral position. Then the sores.<br />
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When we attended his post-surgical appointment we had great hope that his wiggling of the last three weeks was because of the weight of his casts. But that was not the case. The reason he was wiggling so much and wouldn't put any pressure on his ankles was because his feet had shifted in the casts and his heels were rubbing raw.<br />
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Glenn and I had told them he has seizures daily and to make sure he can't move his feet in the casts or there will be damage. We thought that meant he would break the casts, we didn't think he would end up with open sores on his heels the size of a ping pong ball. But when he DID seize, the padding they used was compressed and he was able to pull his foot upward a little. For 3 weeks his heels were rubbed and formed pressure sores. When I saw those on his heels, I was hoping that it was just blood that had pooled from his incissions. I was very wrong.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj8op1ZjIHjMM0Shz4er4LtElua2ilATQyzuuUcaSx9hynDLPfIw-xv_Vxuj3H41P2PI5pc7nCCAdd1kePnaj4zWfeFoPozdRzOP332KyO171nDlOBgYYjcQH0xHEF4sauc6wKoTXsqQGc/s1600/IMG_9197.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj8op1ZjIHjMM0Shz4er4LtElua2ilATQyzuuUcaSx9hynDLPfIw-xv_Vxuj3H41P2PI5pc7nCCAdd1kePnaj4zWfeFoPozdRzOP332KyO171nDlOBgYYjcQH0xHEF4sauc6wKoTXsqQGc/s200/IMG_9197.jpg" style="cursor: move;" width="150" /></a>When the Doctor saw them, the look on his face said it all. This was dangerous and a really big set- back. Doc thought it would cost him at least 3 months. Typical WTF Bug. They were able to get casts made of his legs to order his AFO's and when they re-casted they got him firmly to neutral and padded him so he could heal. Small pieces of glory.<br />
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These casts were supposed to stay on for 3 weeks but with the new sores, the Doctor reduced it to 2. For two weeks I was a wreck. A legitimate psycho with worry over how his sores were faring under the casts. I kept thinking they were getting worse and that an infection would set-in. We had been warned that this could happen even with the precautions they took with the dressings. This paranoia is a left-over from my own experience decades early. All I see with open wounds is the fear of opportunistic infection, this was reinforced with Dad's rounds of infections while trying to fix his heart. I may or may not have been unbearable but I was told I need to relax as well. Relaxing is for people that didn't almost die because someone didn't clean something properly. Relaxing is for people that didn't beg to have their leg removed because the pain was so unbearable. What I needed was to just get through the damn weeks to come. It was ugly.<br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEisVli3HOOVgazfuerV2crDoZXDG1aBZFYPeXXEY-pY02quKLYM96rdhB-Ju-qvnwEhJa9FaPWryZbsOerIqDaHRBBqnO7K5N1miuoZp21GPF7sxwTC3_tsaFpQm2Zo9T34U3gJ46d4ghU/s1600/IMG_9196.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1600" data-original-width="1203" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEisVli3HOOVgazfuerV2crDoZXDG1aBZFYPeXXEY-pY02quKLYM96rdhB-Ju-qvnwEhJa9FaPWryZbsOerIqDaHRBBqnO7K5N1miuoZp21GPF7sxwTC3_tsaFpQm2Zo9T34U3gJ46d4ghU/s200/IMG_9196.jpg" width="150" /></a><br />
At the end of those weeks his heels looked better. The wounds had scabbed up and were starting to shrink a little, which is a problem. To prevent the scabs from getting too dry and re-opening the wounds, we were told to do wet/dry bandage changes twice a day. That was about all of the information we received. The nurse sorta, kinda told us what to do and handed us some supplies but it was really quite inadequate. So I took to Google.<br />
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God bless Google and people that take the time to explain. Every day from October 4th to December 10th we changed his dressings twice a day. We had a nurse for the first few weeks, she would visit once a week to check on him and provide feedback to the Doctor. At the end of the 4th visit we decided she was no longer needed since he was healing well and she said we were doing better dressing changes than most of the nurses she knows. It's a compliment but sad all the same.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjhPphLeHJ3duXekWaZxIrw6HF67slYoBY5hc43kRwq8wSlpMdxcotF48IkeOcfVQyRPl5PQ2YUl1q64M7SRlJqrALQqkD7Rm-KZFKdPLgluBJerYCP3vulIf97O4UMqQlNDpqAw0rGA6Q/s1600/IMG_9397.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1203" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjhPphLeHJ3duXekWaZxIrw6HF67slYoBY5hc43kRwq8wSlpMdxcotF48IkeOcfVQyRPl5PQ2YUl1q64M7SRlJqrALQqkD7Rm-KZFKdPLgluBJerYCP3vulIf97O4UMqQlNDpqAw0rGA6Q/s200/IMG_9397.jpg" style="cursor: move;" width="150" /></a>I've taken pictures throughout this so we can gauge the process he is or is not making. It's been difficult. And by difficult I mean soul-crushing.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhtUV2bifX25YDknkrhYqxaXspa99KYCsBrBwwIBwomsBPtny06DmhPIoyyHcipLQKmXFwg7iZWnBSZAa_nWVsC4pNJM8ib8fFQcxopmxgjCMK2kDX773cvh_F5-2PgsDQnX2oxNb88UII/s1600/IMG_9398.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1600" data-original-width="1203" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhtUV2bifX25YDknkrhYqxaXspa99KYCsBrBwwIBwomsBPtny06DmhPIoyyHcipLQKmXFwg7iZWnBSZAa_nWVsC4pNJM8ib8fFQcxopmxgjCMK2kDX773cvh_F5-2PgsDQnX2oxNb88UII/s200/IMG_9398.jpg" width="150" /></a><br />
Bug won't walk. He will take a few steps and then drop to the ground. Glenn thinks he is being stubborn and we need to make him walk, I think the bones in his right foot are still not aligned properly or his heels are still just too raw. I think it hurts too much. We will find out in a few weeks when we see the Doctor again. I will insist on an x-ray and then we will know what he can and cannot really do. Because he doesn't talk, we rely on body language, rational conclusions and, in my case, experience. I was immobile for 3 months and getting back on my feet was grueling and I, maybe improperly, project that on to him. Only an x-ray will tell me conclusively.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgLzxeBFBben83aF4E804X04QobUi-_Fqi9SXeZBtwXpUv5_KBcc4t-QTzNmcPJ4-oCsyaYGS4M-cynb-5tjfsoDfHa8ellMy41vPyeb9E6UO63geW-29lxw-PJJovG6-1bKJ3ghhFUEkw/s1600/IMG_9076.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgLzxeBFBben83aF4E804X04QobUi-_Fqi9SXeZBtwXpUv5_KBcc4t-QTzNmcPJ4-oCsyaYGS4M-cynb-5tjfsoDfHa8ellMy41vPyeb9E6UO63geW-29lxw-PJJovG6-1bKJ3ghhFUEkw/s200/IMG_9076.jpg" width="150" /></a><br />
Smack dab in the middle of all of this I developed a heart arrhythmia and Glenn was still struggling with an external double ear infection from August. So while Bug was struggling, Glenn and I were attending ENT visits twice to three times a week to make sure he didn't get a brain infection. We did this until the middle of November. Early December, I had told Glenn I was having heart palps and just felt off. A few days later, he took me to the ER on one particularly bad night and we <b>watched</b> my heart freak out on a monitor. By the second week of December, the stress test and echo were complete and meds were on board. I feel much better. But having a newly developed heart issue coupled with the threat of Glenn's magnificent brain possibly getting an infection has also left me feeling emotionally raw. I immediately go to the crappiest possible scenario and that doesn't help anyone. All throughout this holiday season, I've imagined that this could be the last one. It's a reasonable thought given the last three Christmases. 2015 was the last one with Dad, 2016 we almost lost Bug and was the last one we spent with Cheryl. I've had a lot of lasts and a few almosts and it's made me very very sad. I wanted this one to be special; to be memorable in a good way.<br />
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Oh, it's been memorable all right. And I wonder if Bug will ever walk again.<br />
<br />Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-54639617541103479442018-09-26T10:41:00.000-06:002018-09-26T10:45:12.138-06:00The Cost: Too high or too late?<span style="background-color: white; color: #777777; font-family: "open sans"; font-size: 13px;">I need you to understand something. Not just read the words and make platitudes, but truly understand why, every morning of the last 2 weeks I die a little inside.</span><br />
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</div><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjfLQtdHlJ_MwdHi0oGhDAJbu9zKDhwcuuF_EhxySPJB1XjMD4ImMhi6ykS5zVzN8id6Rga5N8IPYNwB6cyH0uLChy-RJzoaKavDI0IHdUPGvI2jR1-lvfv2bU4dKsLpw6156kP1-m0Nio/s1600/DSC00240.JPG" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="1280" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjfLQtdHlJ_MwdHi0oGhDAJbu9zKDhwcuuF_EhxySPJB1XjMD4ImMhi6ykS5zVzN8id6Rga5N8IPYNwB6cyH0uLChy-RJzoaKavDI0IHdUPGvI2jR1-lvfv2bU4dKsLpw6156kP1-m0Nio/s320/DSC00240.JPG" width="320" /></a><span style="color: #777777; font-family: "open sans";"><span style="background-color: white;"><span style="font-size: 13px;">When Bug was born, I held him close to me as much as possible. I never thought I would have a child, I had given up that hope years before, so his presence, and the fact that he resembled his father so much, delighted my soul in ways I had never experienced. I studied every inch of him: his hands with those perfect little fingers, his wide feet with those wiggly little toes and I also noticed the sacral dimple and his large fontanel. They were the FIRST things I noticed about him that were out of place and I inquired of his Doctor who told me: It's closed, so nothing to worry about and just don't hit his head on any door jams.</span><br />
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<span style="font-size: 13px;">It wasn't callous, I giggled and also didn't worry about that dimple. I didn't worry but it also was always there, staring me in the face with every diaper change and every bath, it was always there.</span><br />
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<span style="font-size: 13px;">The fontanel closed shortly before he started seizing at the age of 2 years and 10 months. Glenn pondered if it had any relation to the start of the seizures and we have been told: doubtful. Doubtful not not No. His cranial structures are unremarkable and we checked off a brain abnormality. At that time.</span><br />
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<span style="font-size: 13px;">That left the dimple.</span><br />
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<span style="font-size: 13px;">I brought it up with every new Doctor, every new specialist, everyone that provided any kind of medical care. Eventually I wrote it off since everyone else did. </span><br />
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<div class="separator" style="clear: both; text-align: center;"><span style="color: #777777; font-family: "open sans";"><span style="background-color: white;"><span style="font-size: 13px;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgzIbAUyC59PYU3j3TlRlToUez3eK9bwuuAf2GQpM8HLPNUtuEKcDzEpZbPiUkMxGotOgAJNAkoDc3_8cStQsnn8JnFtUmQHB6xzKrH3OGyuLOwu2s06VpFUb7z3WC1iYSAwEEKhw5xC-4/s1600/IMG_9016.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgzIbAUyC59PYU3j3TlRlToUez3eK9bwuuAf2GQpM8HLPNUtuEKcDzEpZbPiUkMxGotOgAJNAkoDc3_8cStQsnn8JnFtUmQHB6xzKrH3OGyuLOwu2s06VpFUb7z3WC1iYSAwEEKhw5xC-4/s200/IMG_9016.jpg" width="150" /></a></span></span></span></div><span style="color: #777777; font-family: "open sans";"><span style="background-color: white;"><span style="font-size: 13px;">I was wrong and it cost him. It cost him pain. It cost him seizures and it has damaged his brain. That reality hits me squarely in the face with every morning that I awake next to him on the couch and put his leg immobilizers on over his bright blue casts.</span><br />
<span style="font-size: 13px;">I've spoken about the tethered cord, and how important it is to push for a closer look when the symptoms are there, I've talked about many things that led to his ankle surgery but now that the achilles lengthening is over and he is healing, I need to scream to the universe often: THIS DID NOT HAVE TO BE! THIS could have been avoided.<br />
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Every morning I change him, struggling with those casts to keep them from hurting either of us, and I put on his leg immobilizers. Why keep his legs straight you wonder? To make the tendons stay stretched, to prevent him from keeping his legs bent and shortening the tendons and muscles prematurely. Even though he has NOT been toe walking for his entire life, his Doctor is not convinced, and the big concern is that we have to prevent him from toe walking again. The Doctor performed the longest stretch he has ever done. I cried. 3.14 inches on his left ankle and 3.9 on his right. It coincides with his nearly 4 inch growth spurt the year he started toe walking. This can not be a coincidence.<br />
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<div class="separator" style="clear: both; text-align: center;"><span style="color: #777777; font-family: "open sans";"><span style="background-color: white;"><span style="font-size: 13px;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj7KGiMNvNpilcYkDTUmIDK-B2CjDh_KEl-xQMJHRzbAmggNNW6i46nYFPgNkaBM-BaTVk3EiSaQfDpwjApTO_v7G8oTEIh-isu6EXa8G95wQCsxh36Py3YmODMD5jaPHBFVW_ycqnGYQI/s1600/IMG_9054.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj7KGiMNvNpilcYkDTUmIDK-B2CjDh_KEl-xQMJHRzbAmggNNW6i46nYFPgNkaBM-BaTVk3EiSaQfDpwjApTO_v7G8oTEIh-isu6EXa8G95wQCsxh36Py3YmODMD5jaPHBFVW_ycqnGYQI/s200/IMG_9054.jpg" width="150" /></a></span></span></span></div><span style="color: #777777; font-family: "open sans";"><span style="background-color: white;"><span style="font-size: 13px;">We must do what we can to help him get back on his flat feet. </span></span></span><br />
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<div><span style="color: #777777; font-family: "open sans";"><span style="background-color: white;"><span style="font-size: 13px;">He hates the immobilizers. I hate the immobilizers. We hate the immobilizers. They are painful for me to put on him (have to lean forward with my gimpy and pissed off legs crossed in front of me) and he tugs at the damn things randomly to get them off. It breaks me to see this. Every diaper change, they are removed and put back on. He fights me as the day progresses and putting them on becomes easy to avoid. But there is NO WAY I will avoid it. We do this up to 6 times a day.<br />
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He has had to lay flat for the last two weeks and must continue to do so for another 9 days and maybe three weeks after that. I have to, with my herniated discs, change him the middle of the sectional that we pushed together to give him room to roll around, leaning over and rolling and pulling him to get him into position. It's hard to get into the couch cage and hard to get out. It's the hard to get out that we were aiming for: make it easier to keep him down. Without this setup it would be IMPOSSIBLE for me to keep him flat. He's too strong. The seizures and the fact that he is a Maughan have seen to that. But this set up hurts me every day. Physically. Which takes an emotional toll and makes me more vulnerable to anger because neither of us sleep well most nights. Because we also have a step down into the family room, we placed the couch against the step and the wheelchair fits nicely up against the couch for me to slide him into it. We are trying to do this daily but my back doesn't always agree to make that happen. But it can be done and then we do it!<br />
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For Glenn and I, we know he was not always on his toes, we know that he was flat-footed until a few years ago but that still doesn't mean it's not a more comfortable position for him. We have to retrain him. We have to teach him to walk on his feet again. And he can not participate willingly in the therapy process. The only thing we can do with him is make sure he is safe while he works it out.<br />
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<b> For comparison:</b><br />
He went from jumping, unassisted, on a trampoline to toe-walking usually needing support in two years. The second video was coercered so we could record it for his Doctor. He would usually dive for his wheelchair as soon as he saw it.<br />
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</span></span></span></div><div class="separator" style="clear: both; text-align: center;"><iframe allowfullscreen='allowfullscreen' webkitallowfullscreen='webkitallowfullscreen' mozallowfullscreen='mozallowfullscreen' width='320' height='266' src='https://www.blogger.com/video.g?token=AD6v5dx2ukxvgkSApCzSgeA95eChI2Lw5jGgInl0yShP76sjYNCjjsI8en0UAmLsix_kHtIdHorkJdXD8UPs-5e0VQ' class='b-hbp-video b-uploaded' frameborder='0'></iframe> <iframe allowfullscreen='allowfullscreen' webkitallowfullscreen='webkitallowfullscreen' mozallowfullscreen='mozallowfullscreen' width='320' height='266' src='https://www.blogger.com/video.g?token=AD6v5dyYp8MkK8n0CQ8tvkFj1BfLBtLfoewzJnqGcIJoZ_pkLSHU3pGGLm0GvF1TFAAkKrpcSra5XM1r4A_4VbUPkg' class='b-hbp-video b-uploaded' frameborder='0'></iframe></div><br />
<span style="background-color: white; color: #777777; font-family: "open sans"; font-size: 13px;">This thing that did not have to happen, this surgery to correct the prolonged diagnosis to tethered cord relief, has cost us physically, financially and emotionally. It has been the catalyst for both pain and seizures and who knows what else. I am serious when I beseech people to look into tethered cord sooner rather than later to if they are seeing many symptoms, do not let a Doctor tell you to wait until it worsens! Why should it have to worsen?!!! Why let anyone get bad enough to take a choice away? Look at what it cost our son and don't let it make you pay the same price.</span>Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-1651241417326342532018-08-02T12:48:00.000-06:002018-09-26T16:06:21.489-06:00What's that you say?<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiQXPPKXSS-DYPa7ni8o-Y2P6Mg-F0GEoaMuSIfRKUvvrsXJpf-7-umfE0HHNtQAB2ahSAakwYt8jDeQrlO3VRWwDlpzi7b2jGnx5EYTyLtxDm0x9F1x_G2Y4-882e1yGw-BcV3wkHOI78/s1600/IMG_8883.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiQXPPKXSS-DYPa7ni8o-Y2P6Mg-F0GEoaMuSIfRKUvvrsXJpf-7-umfE0HHNtQAB2ahSAakwYt8jDeQrlO3VRWwDlpzi7b2jGnx5EYTyLtxDm0x9F1x_G2Y4-882e1yGw-BcV3wkHOI78/s320/IMG_8883.jpg" width="240" /></a></div>
Yesterday Bug had a visit with a hearing Doctor, Otolaryngology to be specific. He had the best (read accurate because he was actually paying attention and super tired) hearing test of his life and what do you know...he has a problem.<br />
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Low-frequency hearing loss.<br />
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We waited for the Doc and once she entered we discussed KBG Syndrome and hearing loss and Bug's history of ear infections and tubes. She was curious but wasn't too concerned. She stated she didn't think Bug has any anomalies due to his test response. To be sure, she pulled up one of his previous MRI's and took a peek. As she was initially looking at it she said something that made me silently sigh and cringe all at once:<br />
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Usually we do a more detailed MRI and this is a little blurry but it should work.<br />
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This is not a good thing to say to a Mom who has always wondered how well her boy can hear and has just told the Doctor about how her son passes and then fails hearing tests. How one ABR was normal and the other wasn't. How her son's condition has a 70% chance of some type of hearing issue. To THIS Mom you say: That's a good shot! That's a prefect view and we can rule out any abnormalities.<br />
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But that comment, fleeting as it was and even with later assurances that she saw it well, left me STILL contemplating his hearing and his physiology. Sigh.<br />
<br />
While we do have a confirmed low-frequency hearing loss for the first time ever, we are doing nothing about it. <br />
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How's that for typical WTF Bug?<br /><br />This is not over. Nope.Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-4208891950801404062018-06-22T10:12:00.001-06:002018-06-22T10:12:54.157-06:00Weak links - a tale of failure and caution.Thousands of little things happen everyday: Children laugh at gross things, lovers find each other for the first time, parents hold their little ones and pray for better days.<br />
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Yesterday left us optimistic, angry and sad. I spent the rest of the day, after the Doctor appointment, hiding in my room while the children played games, Taylor texted with her friends and watched weird videos and Mom took care of Bug. Thank god for Mom taking care of Bug. He climbed the stairs a few times and smiled at me. I went downstairs several times to check on everyone and try to find my footing to move forward. Forward with anything. So I finished the cuts on the PVC towel stand for the pool until I ran out of PVC and joints.<br />
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Joints.<br />
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It's all connected. The theme of the day. The muscles, the bones, the veins and arteries inside of us and the human interaction around us. It's why I love the #everylinkmatters tagline that Kylie introduced. Every link in the human chain: from parent to child, child to doctor, doctor to researcher, researcher to business, and business to consumer all comes back around to serving humanity in some way. Either through product development or medical breakthrough, we all benefit eventually.<br />
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The connections within Bug are askew. More so now and that's what we found out yesterday. I was expecting it and, at the time I was looking at his X-rays, I felt what I usually felt: okay, let's figure this out and see what we do to help him feel better.<br />
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It's when I came home that I wallowed for bit. Still a bit down about things today as well. These links, all these links that matter have been broken for this kid of mine. In a lot of ways. This time, it means he will be in more pain before he is free of pain.<br />
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Bug's <a href="http://isthisbug.blogspot.com/2017/06/typical-referral-failure-now-with.html?q=tethered+cord" target="_blank">tethered cord diagnosis</a> came too late.<br />
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We visited a new Orthopedic Specialist. I liked him, he was all let's 'go-go-go' which I can appreciate, it threw Taylor off. I caught the good Doc up on the goings-on with the monkey boy and we took some more X-rays. This kid...probably glows under the right light because the amount of X-rays he's had the last little while. Doc did a new angle of X-ray and it gave us the best view of his feet that we have ever had, and it provided an insight we didn't have before. I REALLY like this Doc.<br />
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He walked me into his office because, true to form, the computer system used to display the X-rays wasn't working in the patient room (I kid you not) and he showed me the problems with Bug's feet. With an S. ProblemS.<br />
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Bug's Achilles is very tight. While it IS better after the cord release, it's still too tight and he does not believe any amount of stretching would make progress. Mostly because of one of the OTHER things: Bug's metatarsal bones have moved and are in the wrong place. They are effectively bound because he grew into the position his feet are in now. I asked him, point blank:<br />
<br />
Is this congenital?<br />
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No. <b>This is tethered cord.</b><br />
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I told him, if I wasn't in the presence of such sensitive ears (it was just the two of us in the room), I'd be unleashing a massive amount of swear words.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhqP2JwJb_CZXWNvxtPXpSFchyphenhyphenhBvTG9YmgIHBnym-7aL4RJB6wZ9PX7khFjIn9O9lCrxRSbDbF6tAnZixntyCyOZFZ_YO3Azxvnekqm5lEOTs2JX5c-97asnYg20fdKAbb1826_Ni2enI/s1600/Bug%2527s-Right-Foot.png" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="943" data-original-width="1600" height="117" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhqP2JwJb_CZXWNvxtPXpSFchyphenhyphenhBvTG9YmgIHBnym-7aL4RJB6wZ9PX7khFjIn9O9lCrxRSbDbF6tAnZixntyCyOZFZ_YO3Azxvnekqm5lEOTs2JX5c-97asnYg20fdKAbb1826_Ni2enI/s200/Bug%2527s-Right-Foot.png" width="200" /></a>He smiled and said: I can find no evidence of this being a presentation in KBG Syndrome. Bug's tethered cord was stretched so tight, for so long, that it literally MOVED HIS BONES. Ouch and OMG.<br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEixHSfWspMbX1reUk-l-2d-hGmXN8kefV9SK-2nTNvYCTL4mr4S-uYxOJG9eIJMwH5htSQCZ8Ra4GbTIBXYinFquPSPlm0hYWPvl8hyn-XovUvxipK8vDeavsJz1_9aaR1ytoOsemuo1qE/s1600/Bug%2527s-Left-Foot.png" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="943" data-original-width="1600" height="117" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEixHSfWspMbX1reUk-l-2d-hGmXN8kefV9SK-2nTNvYCTL4mr4S-uYxOJG9eIJMwH5htSQCZ8Ra4GbTIBXYinFquPSPlm0hYWPvl8hyn-XovUvxipK8vDeavsJz1_9aaR1ytoOsemuo1qE/s200/Bug%2527s-Left-Foot.png" width="200" /></a><br />
The last thing with his feet, Bug's plantar tendons on the bottom of his feet are too tight as well. Again, this is the tethered cord. Shit. Double shit with a top of damn damnity damn damn (don't judge, I deserve the swears).<br />
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My happy little man, who is the sweetest little jerk on the planet, HAS to have feet surgery. Doc wants us to see another Ortho, the one we saw before, and find out what he thinks and if he wants to do the surgery. I must have looked surprised, no poker face here it seems, because he IMMEDIATELY told me that he would do the surgery IF HE COULD. Come again?<br />
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How WTF Bug? is this: 2 months ago the Hospital this great Doc operates at closed its inpatient pediatric surgery services down. They gave the Doctors and staff there 3 days notice and fired nearly everyone. <a href="http://www.baltimoresun.com/health/bs-hs-franklin-square-pediatric-20180404-story.html" target="_blank">Not making this up.</a> He could STILL perform outpatient surgeries but he is concerned about the diminished quality of care not having a full pediatric team. He thinks Bug should be kept overnight, even though all of what he proposing is outpatient, just to make sure he is doing well and we can manage his pain. So, back to Johns Hopkins on July 12th.<br />
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The suggestion that we are either going to run with (no pun intended because that would make me cry) or update after the Johns Hopkins visit is do lengthen the Achilles first and see how that impacts the plantar. It IS possible (though slim) that the plantar would recover but the bones will not. They have been permanently modified and will need to be repaired.<br />
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The last finding of the day? Bug has a minor case of hip dysplasia. His right hip is slightly out and it's something we will be following up on at least yearly if not sooner. It's not completely out of place so that's something, isn't it?<br />
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I ache for my son. I have said this so many times in the past and this time, with my own personal experiences, I am even more upset. For years I asked about his sacral dimple and was told it was nothing. For years I asked about why he was suddenly toe-walking and was told it was an Autism thing. I would say: but he JUST started doing this! They would look at me and say nothing or ask ME what I would like to do. My knowledge is limited, I can only tell you what I see in my child, it is not in me to connect those dots and come up with a possible solution. But we have done it, a lot it seems. We are strong links in Bug's chain. Time and again I am left feeling like Bug's lack of communication makes him less of a person in their eyes. They see him for 20 minutes every few months, they don't see him smiling and playing and holding hands. They don't see him seeking out affection and they didn't watch him go nearly crippled. I spoke up. I asked repeatedly about his feet and legs and it was never a priority. Dad getting sick did side-track me, so some of that delay is on me, but still, it had been at least a year of me asking why. Now, in my mind, I am reliving the months up to Dad's death along side Bug's worsening symptoms. SO many weak links in the chain that broke Bug's feet.<br />
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Many many links were bent or broken or completely cut out. I won't let this happen to another family. I won't let any child need 3 surgeries that could have been avoided if the medical world was more familiar with <a href="https://www.ehlers-danlos.com/2015-annual-conference-files/Klinge.pdf" target="_blank">Occult Tethered Cord Syndrome</a>. I will do what I can to raise awareness for this along side KBG Syndrome. KBG Syndrome where it appears to be more common than anyone thought.<br />
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Today, I will finish the towel stand, I will cuddle with my children and take the girls to their dance recital. I will NOT be the weak link today. Today I will be the fire that binds the links together.<br />
<br />Unknownnoreply@blogger.com0tag:blogger.com,1999:blog-5751138515328728534.post-58909096742044199192018-06-11T16:52:00.002-06:002018-06-11T17:11:49.365-06:00First, do no...FIRST?I blogged a few years ago about the Doctor creed: <a href="http://isthisbug.blogspot.com/2015/06/first-do-no-what.html" target="_blank">first, do no harm</a>. I wrote it about the cannabis use that we were lobbying to get. It was a bit harsh, but it was also very true.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh2X5KoPZGPoh5Lf1fKPlXoDi1R84NYMZQC49pZ0LXV1aeGXG6V6Y1dpl-qL8OQ09yclWCeEq1c-h3r3pkBmY8au1eRPMnDr-DVNK5CL-Kwo8gi9vxK62_R54PH0f3n9_WpjAKdkxq6Wow/s1600/Bug.jpg" imageanchor="1" style="clear: right; float: right;"><img border="0" data-original-height="868" data-original-width="651" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh2X5KoPZGPoh5Lf1fKPlXoDi1R84NYMZQC49pZ0LXV1aeGXG6V6Y1dpl-qL8OQ09yclWCeEq1c-h3r3pkBmY8au1eRPMnDr-DVNK5CL-Kwo8gi9vxK62_R54PH0f3n9_WpjAKdkxq6Wow/s320/Bug.jpg" width="240" /></a>Today, after the weekend we had and, after some curious goings-on the last few months, I revisited that creed while in the shower.<br />
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This weekend Bug had too many seizures, sitting at 6 yesterday but they included a few funky ones: an atonic and some partials. He's been having more partials lately, and it makes me wonder about his spinal cord. Why? Because his partials only seem to involve his lower extremities and sometimes JUST his right leg and sometimes happen right after he sits down. Now, I know that Doctors will tell me that it has nothing to do with his spine and everything to do with a possible focal point in his brain. At this point I would remind them that his seizure count after his tethered cord release has not exceeded 8 in one day whereas before the surgery he was sitting at 10 a day on average. Usually, he has two a day now: going to sleep and waking up. Those seizures are his typical tonic seizures. He tightens up and does his Superman (arms above head and toes pointed) for 30 seconds, sometimes a little longer, with a couple minutes of a combative postictal phase. So much better than the full 3+ minute tonic/clonic's we saw for years. These partials are just weird and he doesn't lose consciousness. The fact that he does not lose consciousness is harder to live with than most can imagine and we have lived through a lot.<br />
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That they are resigned, when he has them, to his lower extremities AND, on occasion, are triggered when he sits down, really makes me think he has something physical outside of his brain, going on.<br />
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In the shower I was thinking about his new seizures and I lamented a tad about yet another change in his baseline.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhsiK_W4y1xNzVnjH7XzxkliVANsTcxXv8bI2JVSgspqhevwi4thTzQAcHnhO-4rgdHVBA07cj4SmGwu0NcQMe0c4xjoDioBdRDCXJ4eP_cHKIomZsPpedHolFoQjsBf9zos5nosI4p1oU/s1600/Bug+Riding.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="1600" data-original-width="1067" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhsiK_W4y1xNzVnjH7XzxkliVANsTcxXv8bI2JVSgspqhevwi4thTzQAcHnhO-4rgdHVBA07cj4SmGwu0NcQMe0c4xjoDioBdRDCXJ4eP_cHKIomZsPpedHolFoQjsBf9zos5nosI4p1oU/s320/Bug+Riding.jpg" width="213" /></a>That brought up the topic of baselines (which is another post) and also got me thinking about some of the reasons for the changes in Bug's baseline. His baseline was stable for the first three years of his life: no seizures at all. I would know. I spent every day of his young life with him. EVERY day and usually with him right in front of me or sitting on me. I would have known.<br />
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It's important to note that Bug has several conditions that are diagnosed and all have seizures and global delay associated with them. Treating one could piss off another. He is NOT fragile in any way really, but his seizures are affected by many known and possibly unknown insults, most are internal to Bug but some...are not. Case in point:<br />
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The first successful seizure treatment for Bug was Lamictal.<br />
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He did well on it, really well in fact, for about a year. Then, all hell broke loose and he was in Status Epilepticus for the first time. Over the next 18 months he was in and out of status and had tried numerous medications. He ended up on some heavy stuff that made him a breathing rock. It was awful, but he was alive. At the end of that 18 months we found the <a href="http://isthisbug.blogspot.com/2012/05/wellbuggar-medare-i-hope.html?q=cerebral+folate" target="_blank">cerebral folate deficiency</a>. The treatment for which has kept him out of status ever since (The two incidences of suspected status were either NOT status or causes by something else). Upon finding the cause of the folate deficiency, Folate Reductase Autoantibody, we learned that Lamictal inhibits folate binding and it is recommended to add follinic acid as a precaution. It just so happens, it was follinic acid that Bug started taking upon finding out about the deficiency. NOT a coincidence but it suddenly made perfect sense why the Lamictal was successful for a time and then suddenly things changed; the folate blocking caused by the drug made the deficiency worse.<br />
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In that instance, and it's happened a few other times in his life, the 'first, do no harm' creed didn't apply. We were helping him by using tried and true methods but what we didn't know is that those methods would affect an underlying issue.<br />
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So in the shower I thought: it shouldn't be: first, do no harm but first, identify the harm. Doctors should be approaching their patients thinking not that they will cure them but must be keenly aware that their actions may cause inadvertent harm. In the rush to identify the treatment, they overlook the cause. We are, after all, treating the first symptom which may or MAY NOT be indicative of the cause of the symptom. The action of providing assistance can make things worse, either because of the treatment itself of the underlying cause not being identified.<br />
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First, identify the harm.<br />
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This simple change in the creed might help Doctors refocus from inhibiting the ONLY peek into the cause of the harm and actually begin the search for the reason the symptom is presenting. This change would have been life-altering for Bug. We would not have stopped at the seizures but actually searched for a non-apparent cause. We would not have been happy to reduce the seizures that presented well-after infancy through no insult to him, but we would have asked: what got so bad that it could have caused the seizures? His age at presentation is one of the reasons we do NOT look at KBG as the sole cause of his seizures. Most KBG patients with seizures present earlier than age 3, like Bug. And those that present later, usually present MUCH later and their seizures are easier to control. Bug is an anomaly within each of his diagnosis, all the treatments that reduce seizures, have reduced his seizures but then something else creeps up. Is that what is happening now? History says it is. Which means: We. Are. Missing. Something. We have not identified the harm.Unknownnoreply@blogger.com0