A surprise - for some.

>> Monday, May 15, 2017

Last November, when Bug was in Hospital I asked repeatedly for an endoscopy. I asked for it then because he was heavily sedated and miserable anyway so why not have him recover there? BUT, we deferred to staff and waited.

On May 1st we took Bug to get that endoscopy. You can read about it here. It was his second time sedated in a week and I was not happy about it but we roll with the punches and appreciate what we receive (All blah blah blah...I am still a tad pissed but also happy it is over).

On May 12th, we met with his Geneticist. In those 11 days Bug had a disgusting amount of seizures and then, on May 9th, he had 4.

May 10th, another 4 and May 11th he had 3. All this last weekend, while asleep, he had no more than 3 a night. And last night he only had 2 and that was as he was waking up.

Could this be a new pattern? Hell yes. Yes it can. And what do we attribute that to? His stomach healing.

We believe that, as the medication began to help his stomach, his seizures reduced. For now anyway. Upon researching the medication we found that it takes 7 -8 days to start being effective. For Bug, because we stopped the med for a day while he stabilized some (he was SOO tired which was contributing to his increase in seizures at the time, that we had to rule out it was the stomach med making him tired) on the 7th day of taking the medication we started seeing the reduction.

So, I point this out to his Geneticist, who was intrigued. Welcome to the WTF BUG? Club. When I mentioned the endoscopy, he pulled up the report: all 5 biopsies were normal. Hooray! Wait? 5? Damn.

Then I mentioned the MRI and he pulled that up to. Remember that MRI? The one that was normal? Well, the report stated, very clearly, that Bug's conus (the end of the of spinal cord) terminates at L3. I read it 4 times. L3. We thought that it terminated at L4 or L5 but we definitely knew it was at least L3. They agree: L3 and THAT is a low-lying conus and a sign of a tethered cord. Another sign, only this one is blinking neon. Another: WTF BUG? moment.

I also mention the reaction to caffeine to which the Dr raised an eyebrow and I said: I know, we will bring up stimulants to his Neuro. More conversations about stem cell research and KBG and we ended we with me walking on air. Things are moving for Bug, in a possibly good direction. Boston Children's called and got us an appointment for May 23rd for their tethered cord clinic. I sent them a message a little bit ago and look at that: getting a second (make that third or fourth) opinion next week. There are a few other fine folks looking at his records, specifically his MRI and we will see what THEY think about normal.

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Abnormal test? The hell you say!

>> Monday, May 1, 2017

I started writing this post to detail the amount of times Bug has been refused testing and the number of times we have had to wait for results, beyond normal limits, that is. I was going to point out how his ABR was abnormal and recommendations were made to continue to look into possible hearing loss but once he had his ear tubes put in, another ABR was never ordered and hearing tests were called off because he couldn't follow directions.

I was going to post about how I was told NO to a lumbar puncture for 3 years only to get one, be told the results were normal, and find out a YEAR later that they weren't. That treatment was very successful for a remarkably long time.

About how his first geneticist recommended additional testing and how his Neurologist at the time said NO. Genetic testing that would have told us he had KBG Syndrome in 2009!

I could get into great detail but that doesn't help Bug.

Today, after requesting an endoscopy last November, he finally got one and he DOES have a problem: he has erosion in the top part of his stomach. This is, most likely, caused by his medications but a biopsy was performed to be sure.

Since he woke up from the anesthesia, he has had no less than 10 seizures, 2 while awake. This does NOT bode well for tonight. It all could have been avoided if they had done this test when he was in hospital in November, when I asked. But no, instead, we have three sedated exams scheduled in four weeks. He has seized after the first two, I can only hope he will do better after the last but what are the odds?

Really, I am hoping we aggravated his stomach and the meds that were prescribed to help his tummy will counteract some of this increased seizure activity. If not, this is really just going to be a long, long, long night.

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On living low

>> Wednesday, April 26, 2017

First let's have a little lesson:
The spinal cord carries out two main functions: It connects a large part of the peripheral nervous system to the brain. ... The spinal cord also acts as a minor coordinating center responsible for some simple reflexes like the withdrawal reflex."

"Although the spinal column is somewhat flexible, some of the vertebrae in the lower parts of the spinal column become fused. The spinal cord is located in the vertebral foramen and is made up of 31 segments: 8 cervical, 12 thoracic, 5 lumbar, 5 sacral and 1 coccygeal."

Where does the spinal cord begin and end?
For example, lumbar and sacral spinal cord segments are found between vertebral levels T9 and L2, and the spinal cord ends around the L1/L2 vertebral level, forming a structure known as the conus medullaris."

A good read: Tethered Cord Syndrome and Occult Spinal Dysraphism

So....Bug had his MRI and did well, only 3 seizures while waking up from the anesthesia.

We got a copy of the MRI and Glenn downloaded the viewer. It was quite pretty and then we started comparing to normal MRI's and Tethered Cord MRI's. We thought his spinal cord may 'conclude' a little lower (a lot lower, like 3 vertebrae lower) than a normal cord. Parents I know who have lived through this diagnosis saw it and also thought it looked like a probable tethered cord since the cord extends below the normal point. Very clearly. We even thought the bright white spot at the lowest end of the cord is the fatty filum. Classic tethered cord.

We prepared to hear: he needs back surgery.

Instead we heard; It's normal! Congratulations!

I've been crying all day and trying to decide if we get a second opinion. Most people think we should and I am filling out forms and uploading medical records but...I'm just not ready for this type of battle. I'm still dumbfounded it IS a battle. Am I seeing things? I keep thinking I am seeing things. But then I look again and it seems VERY clear: THAT IS A LOW LYING CONUS.

And Bug falls off a chair.

I'm defeated at the moment. Defeated.

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Insecurities - what do you think?

>> Monday, April 24, 2017

“Problems are not stop signs, they are guidelines.”– Robert Schuller

Bug is still having bad nights. The caffeine does seem to help him a little but not as much as the first two days. Typical Bug.

Tomorrow is a big day in my book, but not everyone feels like it will be productive or worth. Because I am extremely insecure at that moment, let's go through why I think he needs this MRI and why I give him a 90% chance of having a tethered cord. Let's keep it simple too.

In children, symptoms may include:

  1. Lesions, hairy patches, dimples, or fatty tumours on the lower back
  2. Foot and spinal deformities
  3. Weakness in the legs
  4. Change in or abnormal gait including awkwardness while running or wearing the tips or side of one shoe
  5. Low back pain
  6. Scoliosis
  7. Urinary irregularities (incontinence or retention)

Bug Bum.
Crooked crease or not? Because he wasn't standing
you couldn't see his dimple so I helped a little.
This is the base of his spine NOT his rectum.
That indent there is a sacral dimple.
1. Bug does not have lesions, hairy patches or fatty tumors. He DOES have a sacral dimple and the top of his butt crease is crooked.

2. Bug does have foot deformities that developed over time, so my question is: congenital deformities or deformities caused by something external/internal?

3. Bug has been losing strength in his legs over the last year. These last few days, he can barely walk and his legs give out randomly. He WILL walk but he has to be very motivated and when he does he shuffles. This is not something he has ever done before. It's new. Like really new.

4. His gait has changed substantially over the last year. He won't run or skip like he used to, and his toe-walking is insane now. He has open sores on the top of two toes that I noticed in his bath yesterday. Ya, I cried.

5. I have no idea if he has any low back pain but he won't sit for long and when he does, he shifts around a lot. That COULD mean he was uncomfortable. Who knows for sure? Only Bug.

6. He does NOT have scoliosis.

7. Lately he has been retaining a lot. I mean a lot. He will only pee once a day, twice sometimes but it's always a lot. He used to pee several times a day, now...no more than three times.
So if you look back we can put a checkmark on all but ONE of those categories. And ONE is up in the air.

We also know that depending on the severity of the tethered, blood flow to the brain and extremities can be compromised. That, along with pain, could account for some of the seizure increase as of late. I have all sorts of theories about why we had a good run in December but that means nothing if you can't verify. This MRI will verify.

If he doesn't have a tethered cord, all bets are off. I have no idea where to go from here. We will keep trying new medications but he will have foot surgery. If he continues to toe-walk after the surgery, he may end up unable to walk at all within a few short years. This is a big one either way,  and it IS essential since we can check off so many of those symptoms. So why do I feel so stupid for getting this?

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So, this is interesting.

>> Friday, April 21, 2017

I'm about to admit to being a crap Mom. Not a shock to those of you that really know me apparently. Go ahead and judge.

Four days ago, Bug was seizing and NOT waking up. I thought: we are NOT doing this '80 seizures day thing again! A stimulant will wake him up!" and the search began for his left over Vyvanse. Safe stimulant, I thought.

I couldn't find it.

Seizure.

I opened boxes that I hadn't yet unpacked...I dumped them out all over the bathroom floor and scattered their contents about me to hasten the search.

Another seizure.

Damn it! I then found a bottle of Jet Alert. Caffeine! Caffeine is a stimulant! Had to be safer than Vyvanze really so...I checked the amount of caffeine (about one cup of coffee) and a memory hit me:

When Bug was 3 and not sleeping, neither were we. We lived on caffeine. I had my Coke on the table and got up to use the bathroom. When I got back, Bug was chugging the Coke. I immediately took it from him and swore a couple dozen times. It happens to a lot of parents and it wasn't alcohol so...

30 minutes later he was asleep. He slept for 4 hours. I raised an eyebrow and filed that away for future use: NOT too affected by caffeine and I checked his heart rate. Normal. Good news.

Fast forward to four days ago and waking Bug up.

I gave him the Jet Alert. The only thing I had with me to wash it down was my energy drink so I gave him two 3ml syringes full.

Another seizure. Although not as long or as intense and he didn't make a sound. We were up to 30 or so seizures by this time and I was used to the 30 second Tonics with the moaning and screaming and I thought: maybe they are getting better. So, I got my laptop to do some writing and sat next to him to wait for another. It didn't come and he slept.

He slept for 6 hours! Without a seizure. Then he had one more and was awake! We fed him and he played and smiled and was very pleasant.

It didn't last long. He had more seizures that night and again, was not waking so I broke out the Jet Alert. He slept for another hour and then woke up happy. All day he was happy and playful and not another seizure...then he began to nap around 5pm and had a seizure. I thought: Oh no you don't! We are not slipping into another seizure cycle so I gave him another Jet Alert. I felt like I was pushing it but he woke up and didn't seize. In fact...that night...he didn't seize at all until 6am!

Still, I didn't want to feed my kid caffeine daily (gave him the Vyvanse without concern but the caffeine seemed bad? What?).  He woke up after the second 6am seizure and was awake all day. NO caffeine was given. That night...seized a ton. I mean a TON. I won't count, it's too depressing but the rescue meds only gave us 2 hours of sleep. It was a lot.

That morning, I gave him the Jet Alert with his other meds. By 5pm he was napping again, with the amount of seizures he had, anyone would be tired. He fell asleep in the car. And seized and seized and seized. No matter what we did, he would not wake up! By the third one in 30 minutes I cried and stopped by Target to buy some Vivarin. Nana said he had 3 more seizures while I was in the store. I didn't hesitate giving him one Vivarin. He had one more seizure and then...stopped.

Last night he didn't have any seizures  until 6am. He had one and then woke up. I gave him a Jet Alert with his morning meds.

Tonight he will get another Vivarin at 5 or 6pm and we will monitor him. If he doesn't seize at night again, we will revisit stimulants with his Doctor.

Meanwhile...he needs to poop. I'll get right on that. Ick.

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Phones - how I hate you.

>> Monday, April 17, 2017

Kennedy Krieger called back about his MRI.

Sigh. Am I making too much of a big deal over this?

We wait. Again. For how long? I have NO idea.

Because Bug needs to be sedated, the anesthesiology team needs to be brought in and that can 'take some time'. No clue how much time, but clearly there is no priority here.

I told her thank you and pointed out that he is walking less and less and it's very concerning. She said: I'm sorry to hear that, we will get that scheduled.

I hung up and nearly cried. Again. I have never felt like Bug was so unimportant to any medical professional in this very long, very frustrating journey. Decades of Doctors and hospitals and this one takes the freaking cake. We just have to wait, and believe me, I am patient, I really am, we have waited and waited and waited some more, but never nearly 4 weeks JUST TO BE SCHEDULED! We waited a year once, after we were scheduled, to see the FRa specialist. The delay for Arkansas scheduling was to be expected: The Doc was new there and he didn't actually have the ability to schedule. Once he did though...

Meanwhile, he is back to seizing every few minutes while sleeping. Not as bad as November since we can wake him up and he plays during the day, but one can very clearly see he is in pain. His rescue meds are stopping the seizures for 4 hours at a time now as well. Have to be careful with that though, he does build up a tolerance so quickly. The question is WHY is he back to seizing so much and what can we do about it? We wait, is what we do. Wait to see if it his stomach, which we KNOW he has issues with, is causing him all sorts of problems (scheduled March 30th for May 1st).

Bug's ABR at PCH - 2010
If his ears are causing him balance issues, his ABR (which also took some time to schedule - Fax for pre-sedation approval sent Feb 22nd, my follow up call was March 30th and they called back March 31st) is scheduled for May 16th. The ABR that his records show he failed but I was told he only had ONE minor problem with it but it shouldn't be a big deal. The ABR report suggested follow up and when I asked about follow up I was told it wasn't needed. Glenn asked me if I could have misunderstood them and forgot to follow up. I nearly punched him. No. NO, there is NO way I would overlook something like that, I would be all over that like ugly on a monkey. NO. He shook his head: " Ya, sorry, just trying to give them the benefit of the doubt".  Add to that his hearing test that he had while in patient at Kennedy Krieger showed hearing issues. I was told the results of that showed a possible inner ear issue (matching the report from the earlier ABR) and yet, when I went to schedule the ABR, Bug's speech therapist at Kennedy Krieger asked why. She said: his hearing test was fine.

I really am dumbfounded why this boy has THIS luck. I have to assume it's because he can't speak and because his EEG is so ugly. But he still IS. HE IS and he deserves all the help we can muster.

We are always waiting for someone else. His life...is not his. It belongs to the Scheduling department and to them, he is just another sick kid. We can't schedule all three tests at one time though, even though he seizes when he is out, we can't do that because THAT isn't considered a medical risk like respiratory distress. It's JUST epilepsy after all. I imagine I should have pushed the hell out of these more when he was IN hospital. They could have done ALL of them in November when he was getting the LP. Not that I didn't ask, multiple times, it was just suggested we do it all outpatient. What a shit idea that was that we agreed to.

2 year old Bug with Taylor
The thing is: they didn't see 3 year old, neuro-typical Bug, they didn't see the awesome big brother...they see epileptic, autistic boy with slow alpha waves. They see: 'very unfortunate to see.'

We see a young man who smiles and makes everyone around him happy. We see Bug, who can seize all night and still get up and give kisses in the morning. We see Glenn, his father's son who deserves to be just like him.

Maybe our eyesight is skewed because we know him, but I like to think that everyone deserves a chance to live life to the fullest.

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Chicken Sacrifices and Calls to the White House

>> Thursday, April 13, 2017

Haven't done either...yet. But the chickens are being fattened-up as I type.

Bug had a bad November. I will detail that later but it ended up pretty well. Now, however it has gone to shit. Complete and utter shit.

After spending 6 weeks in Hospital at Johns Hopkins, he was able to come home, and was seizure-free for the longest period in his life since the seizures started. Seizure-free. You read that correctly. AND THAT is a hella story.

We thought we had developed a good relationship with our team there, but life outside of Hospital has been less than helpful. So why did we lose seizure-free? No clue BUT it seems to coincide with Bug walking again. Probably a coincidence entirely, but you never can know until you have facts in hand. With a nonverbal kid, facts are the ONLY thing you will ever have and if you don't go LOOK for them, you never get what you need to help him. Nothing will guide you, no complaint or off-the-cuff remark; you have to be proactive. A fair amount of medical professionals will make you feel like you are an overbearing, paranoid Mother for that. I am his advocate, like you should be, let's work on this together...instead...Mother Reports. This is peppered in Bug's medical record. Mother reports. Pfft.

I digress.

When you spend as much time as Bug did in a prone position, your muscles stop functioning properly. PT came in and we developed a stretching routine which made great progress. We stretched his legs and feet everyday and it helped quite a bit. Let me back up: in late 2015 we discussed Bug's feet turning in with his Utah Doctor and we were aligning Botox to help relax the muscles and maybe straighten him out a bit. It didn't happen. We moved and moved again and by the time we had landed in Maryland, he was in Status and at Johns Hopkins.

When we got him stable and after a stint in rehab (I LOVE typing that...makes me giggle), he went home and began walking everywhere, slowly, but damn! We had to just follow him around to make sure he was safe, we could not stop him. He did NOT want to be down. Who could blame him? Within a week he was conquering the stairs like a champ.

Also, after a week of being home, he began seizing again. Honeymoon was over and depression set in. We made several appointments and met his team outside of Hopkins and changed the plan a little and added another plan. A plan that include foot surgery.

One day, I was whining on Facebook and this question was asked:


Bug has not always been a toe-walker. In fact, it didn't start until he was 9 or so. Then he didn't walk for a while because he was in subclinical status off and on, but before that: rock solid. Wasn't clumsy or collapsed for no reason, he would just GO! You can read the entire exchange between my new bestie, Patricia, here:

https://www.facebook.com/amaughan/posts/10209066902085867?pnref=story

In the back and forth it became apparent that there is a good chance Bug has a tethered cord. I decided to ask the KBG families in our private group. This group has provided insight, support and been a great help for nearly the last 2 years, they are literally rewriting what is known about KBG. I harmlessly asked this:

I was stunned by the responses. 11 said they had a sacral dimple, and 4 had either had surgery or were suspected of tethered cord. 2 were going to check on it, and one of those came back with a tethered cord diagnosis. Let me point that out clearly: Since this post on March 23rd, ONE patient has ordered, had the MRI and has been diagnosed with a tethered cord. I point that out because I started calling the beloved Johns Hopkins the same day this family did. This family. Going to the Ped. In Arizona. I called Bug's Orthopedic Surgeon and his Neurologist.  I left 2 messages and didn't hear back. I called and left more messages, two more, in fact and then Bug had his weed appointment at NYU.

We met the lovely Sherry (who should be mad at me right about now) with Erin and Dr. Devinsky. Lovely man and I nearly want to edit my blog post about his stance on CBD from a few years back, but I stand by my words and, contrary to popular belief I don't always have to be right. They were fantastic and asked me how everything was for Bug and did I have any problems I wanted to discuss? I said: One of you could call Hopkins and step up getting an MRI of his lower spine. Ha, Ha.  Oh? They said, do tell. So, I telled. And walked out of the room with a prescription for an MRI! What the what, right? I told Erin if I couldn't get it scheduled with Hopkins within another week...JUST SCHEDULED...I would call her back. We laughed. It's not funny anymore.

On April 5th, the first day back after NYU, I called Nuerology again and Ortho called back. I was told that Bug didn't fit the criteria because his ortho problems started while in hospital in November. Uh...nope. We discussed the reality and Doc agreed it was good idea. A good idea! He would order the MRI and get a referral to a Neurosurgeon to go over results.

On April 6th, I was heading out to get milk and Bug began to follow me. I was at the bottom of the stairs and turned around to see him lose his balance and begin to fall down the stairs...from the top step. I stepped up to try to slow it down and about mid-way up I caught him and we BOTH fell the rest of the way...me holding Bug to protect him. He landed on me and I landed head against the wall and hurt my bad leg.  Nothing broken, but I need a follow up with an Ortho. The pain...worse pain I have had with an injury NOT surgically related. My 8 surgeries on that leg have taught me to deal with pain. This pain is new.

By April 10th, I had not heard from anyone so I called Hopkins radiology myself. They had no record of a request for sedated MRI. Push, shove, pull, grovel and I was told Neuro would call me back.

I missed his call that night but not the next morning. He also agreed Bug should have one and asked me to fax the Prescription. I did and I waited. That was Monday. Now, keep in mind..this is just to SCHEDULE the MRI, not to actually have it done, I wasn't asking for special treatment or lobbying for quicker access, just trying to schedule an MRI. SCHEDULE. Once again, Bug took a small tumble down the stairs that day when his leg seemingly gave out. It was only 4 steps but the impact threw him into seizure.

Today, the 13th, I called yet again after watching Bug wince his way down the stairs (I made him sit down and helped him lower himself one step at a time), I was told the order from NYU was there but I need to talk to someone else since he needed sedation.

This call caused me to cry. Not anything that was said, just...

This is Bug's life, over and over and over. Ask for test, told no, then told yes, then lose results, then get results, then find he does need treatment. Delay after delay after delay. It wouldn't be so upsetting but so far those treatments help him!  They were delayed for whatever reasons and yet...ultimately helped him.

While typing this, I got call from Hopkins Neuro. Boy did she NOT want to talk to me. She hurried me through: The out of state prescription won't be used because Hopkins doesn't do that so Bug's Doctor wrote one. WHAT? Cue ME as 'Miss Pissypants' and I HAD to point out that I was the one trying to keep this in house, the NYU script was just offered in case Hopkins said no. It was THEIR office, the Hopkins big dog himself that wanted me to fax that script. I didn't try to use it to get anything. She politely said: uh huh. We left it with: someone will call me back to schedule it and then I said thanks and she hung up. No 'goodbye', no 'sorry for the miscommunication' or 'dropping the ball'...just...click.

Regardless, now I wait for another call while I try not to cry sitting next to my happy boy spinning a Barbie car. He is fidgeting in his seat and all I can wonder is if he is in pain. He will sit like this for few moment and then move to the floor and lay on his side for awhile. I know pain, having been intimately involved on a daily basis for over 30 years and I can tell you: Bug is in pain. And only a few people seem to care about that. The really sad part: None of the people who care, can do anything about it. So we wait, and lose more faith.

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What a Seizure looks like (Graphic Content Included)

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Seizure Tracker.com

Seizure Tracker.com
Free online tools to provide people living with epilepsy and their doctors with a better understanding of the relationship between seizure activity and anti-epileptic medication dosages. Reports generated on SeizureTracker.com include detail graphing capabilities and are easily sharable with caregivers.

Diamond Potential Awareness Award

Diamond Potential Awareness Award
Thank you Holly at Diamond Potential for this award. Awareness leads to understanding and acceptance. And let's face it, we all need to feel accepted for who we are. The battle has just begun!

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