It never ends

>> Thursday, December 12, 2013

Really, it never ends.

The confusion about why he did so well for two weeks and then can't walk a straight a line and is seizing AT LEAST 6 times a day now, it makes no sense.

He was constipated. It happens. A lot. And the treatment, no matter how innocuous it is, causes its own set of issues.

This time, we chose Mineral Oil. We haven't used it with great success in the past, but we hadn't been on the calcium and leucovorin either so, we tried. After the third dose...it worked. It also caused gelastic seizure activity and myoclonics like crazy. Typical of any treatment we use to help him have a bowel movement. Although, these symptoms were MUCH milder.

Then, he puked.

THIS is a sign he is slipping into a Cyclic Vomiting cycle. The current theory is that it is caused by the contractions of the intestines, thereby developing an 'intestinal migraine'. The treatment for that is Zofran and Ibuprofen. Which makes him take about a dozen little naps throughout the day...most not lasting more than 15 minutes each. And when he isn't sleeping...he is twitchy but happier.

Really, it never does end.

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What IS going on?

>> Friday, November 22, 2013

The last two weeks have been...weird. Very. We started last week with a Status seizure and trip to Primary Childrens.

At 6:00am, Taylor knocked on my bedroom door and said: Bug is crying.

This is disheartening for one reason: He almost NEVER cries.

Bug had that broken foot...didn't cry. He had a 1 inch sliver in his finger for at LEAST a week...didn't cry. Crying for Bug is very bad.

So, I got dressed and ran upstairs where I found my little prince curled up on his bed sobbing. I held him and caressed him and begged him to tell me what was wrong...point at something. He didn't. He doesn't understand. So I just held him and weighed my options. Then he seized.

It was a bad seizure. Very bad. And once it was over, about 2 minutes later, he cried again. He did this 4 times in about 40 minutes and at 6:45 I did something I haven't done in a VERY long time: I gave him Diastat. I gave him the Diastat and, while he was still crying and we were waiting for the Diastat to kick in, I checked his 02 level.

81

For those that don't know...anything 85 and below can cause death. Yes, it takes a while at this level but still, Bug has never been that low before. Ever. Never.

Luckily, Mom and Dad were here and they were able to stay with the other 3 while I took Bug immediately to the ER. I did not go to Primary Children's because I didn't have time. I needed to get his 02 level up. And he was resistent. They blamed the Diastat. I corrected that. Nope. Not the Diastat.

And he won a trip, in an ambulance, to Primary Children's.

We were there for 10 hours. He had a chest xray which was normal, he had an EEG which was HIS normal but did develop a fever. We gave him ibuprofen, his fever broke, he woke up and we went home.

Since then, in 10 days, we have only 2 confirmed seizures. What the hell you say? Yep. 2. Confirmed. Now, he could be having more but we haven't seen them.

He has been sick. Runny nose and cough kind of sick and that COULD be why. But for that long?

Waiting for the other shoe to drop with a great, big loud thud. But until then...what is going on?

He is happy, energetic...very energetic. He is eating well, albeit grossly, and he is giggling when we tickle him. So odd. Enjoyable, but not like him. I like it. Mostly. The food messes are not so great, but the personality is awesome!

So, again, we wait. And we wonder: What is going on?

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A flurry of activity

>> Saturday, November 9, 2013

What is going on?

The last three days, Bug has been more hyper than usual. I mean, hyper like he was when he was 3. It's curious and kinda frightening.

What makes it frightening? He isn't being careful. He is banging into things and people, although he is humming a lot and watching TV, the hyperactivity is scary. He misses stairs...he jumps off the furniture.

He seems to have regressed a little but is also very happy and only seizing once maybe twice a day. His regression is based on how he eats and plays and that he no longer releases the seat belt but just wiggles out of it. :(

The self-stimming and hyperactivity is through the roof.

An example:

We went to Vegas, while we were in St. George. Why not? We ate at a Buffet. TWO hours later we left. Two hours at a buffet you say? Yes. It was an adventure.

Bug was so hungry as soon as ANY food was near him he would grab it and shove it in his mouth. Then he would pull pieces out of his mouth, smash them in his hand and eat them again. Aiden dropped his toy and it rolled onto the table, knocking over Daddy's FULL Diet Pepsi into Bug's plate. Another plate and another Diet Pepsi were retrieved.

We cleaned it up. Ava was done eating and wanted to walk around on the booth seat.

Bug then spilled Daddy's new, FULL Diet Pepsi on himself and Daddy while Ava was jumping on the seat and being scolded for it.

Aiden leaned. And grunted. And then I needed to change his diaper, remove his shirt for good and clean up the high chair. While I was changing his diaper, Bug spilled ANOTHER Diet Pepsi all over the table.

All the while, we fed him. Anything and everything we could get him to stop knocking over. He kept pushing away from the table and then trying to stand up. As he was doing that, he would reach out for ANYTHING he could grab. Including the next thing he spilled: au jus for the roast beef.

Aiden needed to be fed and off to the bathroom again.

When I got back, Ava was crying, no clue why...sometimes she just cries. Bug was chirping and grabbing and Taylor was just laughing. Daddy went back to get seconds and Bug knocked over another au jus. How does he keep doing this you might wonder? I can try to explain but really...it's something you have to experience before you can fully understand.

When he is like this...we worry. And we wait. That other shoe is getting further and further off the ground.

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So..it's THAT kind of day.

>> Thursday, October 3, 2013

I awoke to my friend Jennifer saying: Answer your phone. I wasn't really asleep but I wasn't all the way awake either. We worked on the reason I needed to answer my phone and set an appointment. Seemed easy. Seemed too easy.

Bug slept until 10:20am, not unusual, he has a runny nose and a mild cough so really not surprising. What was surprising was the MASSIVE Tonic/Clonic he had at breakfast.

He was sitting at the counter eating his waffles and I was holding the baby, getting some more work done. When I hear something I haven't heard in MONTHS:

Gasp, choke, gasp, choke.

I look over toward my little Prince, and he is curled tightly in a fetal position over the side of the chair; convulsing. We strap him into the chair for this reason.

I run to him, unstrap him and carry him to the couch where he convulses for another 90 seconds.

All total this one was 2 minutes and 30 seconds or so. That was 30 minutes ago.

In that time, he has almost puked, peed on me...ALL over me and been twitchy and mouth-breathing.
I would take a picture but it's too heartbreaking. He also smells VERY sulfuric. His breath, his gas, all has that sulfur smell to it. Mom even noticed it. He is cuddling with me right now. I sure do love the little guy.

Epilepsy sucks and now...I need a shower.

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The day after....

>> Friday, August 23, 2013

Last night was an almost sleepless mess.

Aside from the baby being up and down, Bug got up at 4:17am, walked into his bedroom, crawled up on the bed and tried to go back to sleep. He did sleep for a short time. He was awake again 5:55am and then up for good at 6:40am.

All of this WITH Melatonin. I can only assume it was the Benadryl they gave him before the IVIG. It does that to me as well. I have once been mostly awake for 72 hours taking two doses of Benadryl. The most curious about him being up is that he SHOULD be seizing a lot, and he isn't. In fact, he is playing and smiling and seeking out my lap.

Which means he is also walking on the foot he is supposed to stay off of. Sigh. Hopefully he will get a cast today but the jury is out on that one, the Podiatrist is booked. The only way he will get it is if a nurse does it. Let's hope this Doctor has fabulous nurse, otherwise I am afraid he will make it worse. :(

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The first.

>> Thursday, August 22, 2013

The arrow points to the boo boo. Do you see it?
Is it just me or was that last post a cake walk?

Compared to 4 kids with one Mommy in the ER it was.

That's right. ER trip. Alone with the children because Bug fractured a bone in his foot.

Dumb bleeping luck that one is. But it was also NOT a result of a seizure. Oh hooray?!?

He was getting out of the van...we've had the car for over a year...he's not new at it...and he seemed to...stumble out of it. I don't know how else to put it. Taylor walked around the car to get him (he tried to go in front of the car but there isn't room) and I noticed he was walking oddly. I got closer and he was limping. He has sprained his knee before so I knew to watch him.

And I watched him. For an hour. Watched him walk on that toe, but would not put the heel down. He was with the other foot. Hmmm.

We took Tay to Karate and I called Glenn. He validated my decision to watch him. So we drove home.

I got everyone out of the car and carried Bug inside. When I set him down and watched him, I knew we were all getting back into the car.

We arrived at the ER, all five of us and proceeded to take over the joint. It was a full house but they got us in, got Bug an Xray, they held the baby while Ava screamed, and had our diagnosis of a buckle fracture of the third metatarsal, in under an hour. But then we waited 40 minutes for the discharge paperwork. In that time period, Ava managed two suckers, 4 melt downs and one iPad removed from her sticky hands. It was ugly. Bug sat serenely on the gurney. That part was awesome!

The fracture is so small they weren't sure, at first, if it was an anomaly.  But, he goes to a Podiatrist tomorrow for a cast. They are sure now.

I wanted a cast last night, because I knew he would not stay down. Today, I was thrilled he didn't have it on.

Today, was IVIG day. He was a wiggly little trooper. Even through 2 IV's, he was a champ. But keeping him contained on the bed through the infusion...was not awesome. For 6 hours. I'm sore.

So now, we wait and see. And we go back in 4 weeks. Give or take, and do it all over again. Daddy will be home to go with us next time.

Hell of a 24 hours for Bug...makes mine look not so ickie afterall.

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Oh, for the love of...

>> Wednesday, August 21, 2013

The last 48 hours have been very busy. Good, but busy.

First, Bug had a wonderful appointment with his Neurologist. Bug will be doing IVIG tomorrow, he may be changing medications in a few months, depending how the IVIG goes and he WILL be doing some kind of supplements if his second set of blood tests comes back as wonky as the first. And a few other things...awesome things...but about those later.

Yesterday was Bug's first day of school for the year. He made the van, maybe his LAST trip since I was told that he would be riding a Bus, a big shiney new bus with A/C in the BACK of the bus, by the end of September....so what does he do until then? He can't ride a bus with no A/C. He will seize. But he made the bus that day and all seemed good. One seizure before the van but recovered nicely.

I took my sister back to Ogden and came back in time to not be too late to my meeting. Ava was less than cooperative but it worked out and I didn't look too unprofessional. I hope.

Aiden, Ava and I picked up Taylor and waited for Bug. He got off the van and I noticed dried blood in his nose. No notes. Shari had no idea what had happened. He has been seizing 5-8 times a day and NO yellow papers? SOMEONE missed SOMETHING. Oy. All three had noodles for dinner and Bug had his AND some of Ava's. Cool.

Three kids got in the bathtub and two got cleaned, one climbed out because his sister was pissing him off and he had 2 more seizures. So...I saw 3 seizures...how many did I miss while he was at school?

Ava went to bed, followed 30 minutes later by the older two. The youngest...smiled. And smiled...and laughed...until midnight. Yawn.

Onto this morning. Aiden slept until 5am when he ate and went back to sleep. At 7am I heard (and felt) THUD. I looked at the screen and saw Bug launch out of bed (there is a delay in the video). I threw on my robe and went up to see a twitchy, but not seizing, Bug on the floor. Ava was standing in her crib saying: Mama, Mama, Mama...blah blah blah...Mama. Taylor perked up: Morning Mom! Hi Tay, it's time to get ready for school.

I carried Bug, Ava tore into the water bead things Tay HAD to have for Christmas and began snacking and we eventually made it downstairs while Ava sang the theme song to SpongeBob. Got it: Put in SpongeBob to keep her occupied.

I medicated Bug, put on his helmet and I rode Tay until she got ready. Changed two diapers and got one lunch ready. Three kids were dressed and got into the car and one sleepy baby was awakened and changed and smiling, put into the car. Tay made it to school two minutes late. Hooray! Not bad.

Forget this breakfast thing...I went to McDonalds and got the meat-eaters 4 sausage biscuits. Ava ate two of the sausage patties and threw the biscuit parts on the floor. Bug ate maybe a half of one and refused the rest. Uh oh. So I let them out, fed the baby and called PCMC. For twenty minutes.

'We don't have a record of your appointment for tomorrow. Hold on and I will get this worked out.'

OK, can do...hold music.

'Annette? Still there? I am calling another nurse' 'Yep, I'll wait'.

Ava: Mama?

Me: Are you poopy?

No.

The smell says otherwise. I hold the phone with my shoulder and change her diaper. She leaked. One outfit down. Aiden begins to wiggle next to me. I get Ava up and pick up Aiden with the phone still on my shoulder when I hear: Still there? And then...some explanation of something that I missed because at that moment...Bug dropped his toy, his very heavy, musical toy on my foot. I did not swear, I did not drop the baby or the phone. But I DID almost cry. It hurt.

James comes on the phone and explains all is taken care of and we are scheduled! He was charming and apologetic and it was great. So I limp into the bedroom and get Ava another outfit while talking with James. I said some weird things, I think, but all is well.

All of us get into the car again and off to Bug's School. We get there, I wear the baby and hold hands with both Bug and Ava. We walk down the hall and his classroom is empty. We walk to the PE room...and it's empty. We walk to the sensory room...and it's empty. We walk to the playground...yep...empty. We found them in the Library and Bug LAUNCHED to get away from me. I think he likes school.

I update the Nurses about no more mid day clonazepam, we sign Bug in and head home. Oh, I left out the part about Ava screaming her guts out at Bug's school. It was less than charming.

So we are home, Aiden is asleep and Ava is making explosion sounds with her mouth with playing with a power cord. Wait...what? Be right back.

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Typical...

>> Friday, August 2, 2013

Counting to 20 and breathing slowly before I pick up the phone.

Bug is supposed to have IVIG at Primary Children's Hospital. The always fabulous Meg, from Arkansas, has been trying to arrange it and this is the course of events:

Called PCMC and no one knew where to direct her.

Emailed me and I pointed her to the RTU after conversing with some other parents.

She called the RTU and they told her that Dr. Frye would have to call and talk to a Doctor there to oversee his treatment since Frye does not have admitting privileges in Utah.

Dr. Frye calls the RTU and the Charge Nurse tells him that she has no clue who could help. Or something to that effect.

I email PCMC and ask what we can do.

I am told: Dunno

I whine a little and my email is forwarded.

I send my email chain to Glenn and he agrees we should go back to Arkansas.

I cry.

In 200 seconds or so, I may be calm enough to call someone but to what end? This happens all the time with us! Why? Just why?

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Taking the time to remember why

>> Thursday, August 1, 2013

When your child has a chronic condition, so often one becomes so fixated on finding the solution that all they see is the next possibility, or the next treatment.  For parents with genetic conditions that arise at birth, or before, they cherish every day, they never became complacent about the childhood their child experiences, they work everyday to ensure that they have another day.

After getting the blood test results yesterday, I began researching. I came across things with titles like:

Disorders of Organic Acid Metabolism - The cause of isovaleric acidemia is a congenital deficiency of isovaleryl-CoA dehydrogenase, which mediates formation of 3-methylcrotonate

No kidding.

So, this morning I needed to remind myself to stand back and enjoy the child he is, as much as the child he was. This little boy, is so close to getting the help he needs to feel more like himself than he has in years. We are excited, and we are scared. This let down could be epic, if the treatments don't help, and so, we keep it in check and we remind ourselves that we have worked for years diligently and we are confident that we have done our best. Now...the medical community hasn't but that is another post for another time. Not now. Now, we smile at what was, what is and what may be.

And I post pictures.

Bug used to like to hit things with sticks. At restaurants, he would use the silverware, or the straws and he would tap on the glasses or the plates. It was both cute and annoying. So, for Christmas of 2005, he got a drum set. He broke that in 2 hours.

He then got another, heavier duty one, and that one lasted a week. We moved to this 'real' one a month or so later and he loved it! He played it everyday for months! And then...one day, he didn't. One day, he picked up the sticks and played for a few minutes and then, he never touched them again. That was the beginning of the regression, of losing our boy, of getting a new boy in his place.

These drums...are still on our basement. Pathetic isn't it? We can not bring ourselves to throw out something he loved to much. One day, he may play them again. One day, he may pick up those sticks, and then again, he may not. I have no doubt that one day these drums will no longer be in the basement, but for what reason, is yet to be seen.

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We're starting to hate the roller coaster

>> Tuesday, July 30, 2013

In 4 days, Bug had only 3 seizures...less than one a day.

Then the shoe dropped and he had 4. In one day. 4.

So, we start over. We write it off to something, anything, to help us feel a bit better and we move on.

This morning, I was up at 6:00am feeding Aiden and at 6:45am I heard: THUD! Bug had fallen out of bed. I played back the video to make sure it wasn't seizure related (it wasn't), got dressed, grabbed his helmet and set out to find him.

I didn't have to go far. He was in the living room, on the couch. He smiled at me and I crawled in behind him. He placed his head on my chest and went back to sleep. It was lovely. Until 7:17.

That was his first seizure.

I can't explain to anyone how it feels to be completely relaxed, cuddling, and then feel that tension of the muscles tightening up. Of feeling that any control you had in your happiness of the calm, almost normal moment, of cuddling with your child, was taken away. He seized for only a few seconds and then tried to go back to sleep. By this time, Ava was awake and downstairs and there was a flurry of activity.

Which lead to another, much larger seizure, 15 minutes later. A 90 second Tonic/Clonic. And there was another THUD: my heart hitting the floor. One would think I would be used to it, but I am not. I don't know that I ever will be and that may be a good thing. It means I will continue to battle this, to not accept that this is 'as good as it gets', that I will get my smiling, happy boy back. Someday. Not today. But someday.

No more seizures today Buddy. No more.

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What's that you say? Abnormal?

>> Wednesday, July 24, 2013

I'm taking a shower, minding my own business and the phone rings.

Let's go back to Arkansas first.

After we got settled into the EEG at Arkansas Children's Hospital, and we started the IVIg, life seemed pretty surreal.

Here we were, south of the Mason Dixon getting the treatment, that for over a year, I had been trying to secure for Bug. It didn't seem to be real. Not sure why, I always get what I want. Phhfft.

The first night was uneventful and the second was as well but the third...sucked. Turns out Bug was constipated. I had realized it the evening of the second infusion and made the comment that we MIGHT want to help him out in that department. I didn't follow it up though and so on the third day he ate a HUGE breakfast and no lunch. He slept.  Uh oh. That evening he didn't touch his dinner and I started to worry it was the IVIg. Then, he puked. A lot. It was his breakfast. I didn't worry about the IVIg when I saw it was mostly his breakfast. He was NOT digesting it because he was 'full up'.

So we tried to give him Miralax. I told Glenn: You might not want to give him so much so fast, I am not sure he is done. Glenn looked at me and gave him another syringe. It came back to haunt him. Not that I am happy about that but...giggle.

The next two days were pretty mellow only Bug started almost saying things. We thought it was our imagination at first but then he kept doing it...of course he kept seizing too. That part I wish we had left in Arkansas but we can be patient for a few more months.

We left it with: They will set up the IVIg with PCMC and call us about the test results (hint, hint), then we may arrange to come back in two months or so. Thanks all around and two days home.

Driving through Colorado all I kept thinking was: Cannabis. I wonder.

That was over two weeks ago. We have heard nothing since then.

Until today.

I got out of the shower and answered the phone, it was Meg from Arkansas Children's Hospital. She was letting me know that his labs were abnormal. What was that you said? Abnormal? NOTHING has ever been abnormal before. Hooray!

SO, with these abnormal values, Dr. Frye likes to verify them with another test. OK. We can do that. More blood coming right up! Well, not immediately. They will fax the test to AMFOHO and then we will go give them another sample (please don't be urine, please don't be urine).

I asked about the IVIg while I had her and she said she would find out and get back to me. She thought they had faxed it, and I am sure they probably did, PCMC is just that way sometimes. Sad to say: we are used to it. But, get back to me, she did. The email asked me where we wanted the IVIg done. Oh hooray! And yet...poor Bug a boo.

Can't wait for the re-do and the results! A few more weeks! Eeek.

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But wait...there's more

>> Thursday, July 4, 2013

John, the research assistant called a little shy of 8am.

I was not happy. We had been told to be there at 10:30 but John changed that. He wanted us there...oh at 8am. Not...going...to...happen.

And didn't.

Surprisingly, Glenn was able to collect the urine specimen. Shocking, I know but an entire specimen cup full was achieved. Well done! And it was a good thing too. We got to the hospital at 9:20am and John met us in the lobby. He escorted us to the lab and looked over the blood work request.

I wonder if Dr. Frye wants to have more tests...this looks a little weak. So, John called. Which was a bummer for Bug because then they had to secure 40ml of blood.

Once that was done we went to breakfast (which was over and had to settle for lunch) and then to John's research office. It was a very humble room. That means small.

John explained the reason for the study and the, almost excitement, to get Bug signed up. He said: Dr, Frye called him at 5:15 and told him he had to get Bug signed up immediately. That's why they added more blood work.  He told us that they are recruiting 400 children, 50 with ASD and Mito, 50 with just ASD, 50 with Mito, 50 with Mito symptoms but no Mito...etc...then, they were securing urine and blood in the hopes of developing a urine test to identify ASD. Wow. Cool. I told him I could get all 400 participants for him in a matter of a week. He laughed. We didn't and explained that Utah has a much higher incidence of Autism than the national average, and that I know a few people. This part interested him greatly. We will see where that goes.

After the explanation and the paperwork signing, we went into another room and they filmed Bug while we were asked questions. This part was supposed to take several hours...it took us less than an hour. This is simply because Bug has such poor communication skills <read NO communication skills> and because his behavior is really mild. He is not aggressive or moody, he just is.

Once that was done, we proceeded to admitting. They did not have him listed. Uh oh. So we waited about 30 minutes and then we got our little bar code (no kidding a kid card with a bar code on it) and where heading up to the 4th floor. They have escorts. We were escorted to our room and then the nurse came in, then the tech, then the Neuro and the Assistants. We were over run with people. It was kinda cool. NO waiting.

Bug was hooked up to the EEG using GLUE, cooled and set with air. This did not make him happy. She took a half inch square of gauze, dipped it in glue, set it over the lead and injected air into the lead until the gauze and glue were dry. It was interesting, he hated it.

He was on EEG for a few hours when he had his first seizure. A few hours after that, Glenn accidentally pulled a lead off and, very quickly, put it back on. He was so fast, the EEG techs didn't see it as an anomaly. Very funny.

At 7:30 he was supposed to get Benadryl and Ibuprofen and then at 8:00 the IVIg. That didn't happen. He got the Benadryl and Motrin at 8:30 with his regular medications and the IVIg was started at 9:00.

He did really well with it, no reactions, and it was infused and complete about 11:00.

Since that time, he has had 4 seizures. The Neuro suggested he has Lennox Gestaut Syndrome. When Glenn told her that Dr. Charlotte Dravet didn't hink so, she backed off a little. :) Still..it's out there. It's something we have heard before, LGS and West's Syndrome, also BRE (Benign Rolandic Epilepsy) Angelman's Syndrome, Juvenile Myoclonic Epilepsy, Fragile X Syndrome and a few others. We will have to wait until tomorrow for the EEG to be read by the Neurologist that usually reads those things, but she was leaning toward LGS. She wasn't sure how LGS worked with CFD - his official diagnosis- and FRa, so it's up in the air.

Meanwhile, Bug is a little tired today, but after not sleeping well, that's not surprising. He is hanging in there, a little twitchy and drooling but...hanging in there.

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Arkansas

>> Tuesday, July 2, 2013

This day we have waited for, when it finally arrived, made us late. BUT we still checked in right on time. I would be lying if I didn't say I was relieved to find his name on the books when we checked in. I was thrilled! Especially because I didn't have any of his ACH (Arkansas Children's Hospital) paperwork and had to call the hospital to find out where the good Dr saw his patients. Did NOT bode well.

We checked in at 10:00, were called to registration at 10:05 and were in the room at 10:25am.
I should add a few impressive things:

First: They weighed him accurately. That's right, accurately. Accurate because they have a really spiffy chair that the children sit in that weighs them.

Second: They got an accurate blood pressure. That's because while he was sitting in the weigh-in chair, she wrapped the BP cuff around his leg. Within moments, the machine beeped and we had his, rather high, blood pressure.

Third: They measured his height in less than 10 minutes. In fact, it took less than 15 seconds. Their height measuring stick is digital. DIGITAL.

His total check in time was a little over two minutes and it was all accurate. Cool.

So, we went to The Room. For 5 hours. For....5....hours. Of course, we would have waited 5 days but still...it was a new record. If it had been in the ER it would have been a new record as well: Shortest time to treatment but we weren't in the ER.

In that time, we talked with Keira, and two dietitians, who decided he probably needed a calcium supplement, if it didn't cause him great constipation. They also decided he was exceptional in his eating habits. I had brought what medical records we had for him, and they made copies.

We heard children crying, we heard parents singing and we heard Bug humming and chirping while he played.

After 5 hours, the Doctor came in. We exchanged pleasantries and he asked about Bug's history. Now, he had his records so we didn't have to talk too much, just about what mattered to the Doc the most.

Then, he said: I don't suppose you did a follow up LP.

To which I responded: Yes we did (BIG SMILE).

When?

Two months ago and I STILL am waiting to hear the results.

He said: That seems a little excessive.

Tell me about it.

We all agreed that having those results was important so I called Bug's pediatrician's office. True to form, they came through. They pulled up his results and faxed them over.

If only it was that simple.

What was faxed, did not have the values, it was only the paper that stated the test had been performed.
So I called back. 20 minutes later the results were being faxed. Only they didn't receive them. So I called back and THEN we had them.

The good news: His 5-MTHF level went from 27 (range is 36-100) to 73! Oh hooray!

Doc then brought in a Neurologist. While talking, he mentioned:

So he hasn't had the antibody test.

I smiled: Yes he has.

I fetched the results on my phone and handed it over. His response did not shock me and it made me smile. He said:

Wow! That's the highest I've seen. His blocking number is very high.

And then:

He has the double whammy. Blocking is really high and binding is about medium but...has he had any IvIG?

Not just no but I've asked and they looked at me like I was asking them to split an atom with a spoon.

So, Doc wrote up a protocol for PCMC for IvIG and also wanted to do some mitochondrial testing. He asked if any of his mito testing had been performed after fasting. Nope. And has he had any other autoantibody testing, because with ONE autoantibody there is more. Nope.

So we left with two tests and one protocol.

We went to have pizza, Bug seized at the table :( and Kiera called.

She said: We were brainstorming after you left. How would you feel about US doing his initial IvIG? It's a 5 day course, are you OK with that?

Hell yes.

We arranged for him to get his fasting blood work tomorrow and then be admitted for an EEG and IvIG. Cool.

But wait...there's more.

We got another call. This time they asked us if Bug could participate in yet another research study (when we got into the room we signed a release for his info to be used in a study). This time, they would draw more blood tomorrow and we will collect first morning urine. Good freaking luck with that, Daddy...that's all on you big guy.

So, not only did we get the testing I wanted but we are also getting first level treatment! Excited is not the word, especially since he has had yet another seizure in the hotel room. This sucks, but hopefully, it won't suck for much longer. Fingers, toes, eyes, arms and legs crossed.

What a day.

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The big deal

>> Monday, July 1, 2013

In 12 hours we will be sitting in a room at Arkansas Childrens Hospital. We will have a black book filled with papers detailing the last 7 years of our oldest child's life. We will be waiting to discuss what his new genetic tests mean. I will be nice and timid and very polite. Unless Doctor Popular blows us off like almost every other doctor has. We will be with our two beautiful sons, both silent, both with a bright future ahead of them. No matter how mean their Mommy has to get or how many hats she has to hold in hand. We will learn more tomorrow than any other day in our lives. Bar none.

And 14 hours from now...one of us will be crying. And one of us will be spinning and smiling and being an amazing person.

And hopefully all these things will follow a solid nights sleep.

What are the odds?

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The adventure begins.

>> Saturday, June 29, 2013

Last year, after we received Bug's CFD diagnosis, I queried the causes for it, found out about FRa, called the Doctor most likely to answer and got an appointment. For this year. Popular man, this Doctor. Also, popular Doc resides in Arkansas.

So this morning we took the boys, and headed out to drive the almost 1500 miles to Arkansas Children's Hospital.

I'd like to say the trip was uneventful...and it was unless one counts the ONE myclonic seizure, baby pee on Mom and the seats (yes, plural), 8 beef sticks, and Aiden barf (again, all over Mom forcing the late night shower at the hotel room TWO HOURS after the fact - baby wipes just do NOT get rid of THAT smell).

If we don't count those, you betcha it was smooth sailing.

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What does it take?

>> Thursday, May 30, 2013

A week ago, I called Bug's Neurologists office about his lumbar puncture results. I haven't heard back from them.

What does it take to get someone to just look it up and call back? I will BET money that if I call his pediatrician's office they will pull it up while I am on the phone. Any takers?

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Speak and Jinx

>> Monday, May 20, 2013

Man, did I ever jinx Bug.

"1 - 3 seizures a day," I said.

Today we are at or over 7 so far. That we know about. He slept until almost Noon. Getting sick? Constipated? Who knows. I just know that his helmet has saved several trips to the ER.

Damn.


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Added complexity

>> Sunday, May 19, 2013

Bug is doing quite well. Really.

Although he seems to be having slightly more intense seizures, we are hovering at 1-3 a day. Not bad considering his history.

The MOST exciting thing is the noises coming out of his...well...through his lips. He isn't opening his mouth and talking but he is making the 'Old Bug' humming and chirping sounds. A lot. Almost non stop at times. It's fabulous to hear. Once in a while he will open his mouth and say something...it's never coherent and it doesn't seem to occur over any one thing but at least he is making an effort.

The single most curious thing is also the most indelicate of things: we had to give him Miralax to help him void. Usually that means Gelastic seizures or tons of Myoclonics but he only had one Tonic. One. Wow.

Still, that's not the complexity part.

His baby brother born May 10, 2013 is the complexity.

The child has me on edge and in love. I would be lying if I didn't say that all the little standard baby movements aren't worrying me. Because they are. I watch him sleeping and see him twitch and stare for another 10 minutes. We (Glenn is doing it too) do all the little neurological tests they do to infants to see his responses. When he sits still, I try to rouse him. Really, he is usually dirtying a diaper and is concentrating, but my mind says; he is having an Absence seizure. He isn't. I can bring him around. It's ridiculous. But one does these things when they are willing to take a chance. Knowing that Bug's condition has a genetic component, we are taking another chance but what a beautiful chance and one that I would not miss out on for the world.

Aiden Christopher Maughan
May 10, 2013
8lb 11oz
20"

Welcome to the madhouse baby boy.

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23 and Bug

>> Wednesday, April 17, 2013

A little while ago, while being neck deep in frustration, I came upon a group of people on Facebook and reached out to them. While, I openly admit that they are well above my comprehension level on most things, I can hold my own. Especially when talking about seizures.

One of the things I found was a relatively cheap genetic test. Yes, Bug has had a few tests already, but they were specific to epilepsy and basic known genetic conditions. And then...they threw their hands up. The child has markers for Trisomy and they threw their hands up? I guess not everyone needs answers.

We are not in that category.

So, I sent away for the test kit and tried for over a week to get the amount of saliva needed. Bug used to spit. For no reason...would just spit. Yes, it's a gross as it sounds. But now...he doesn't spit and doesn't understand what: 'Hey, Bug...spit' means. I had to wait for a drooling spell. Every time he would have one, someone would wipe his mouth or give him water or something to make him swallow. Until I got my hands on him first thing this morning.

Before his meds, I spent almost an hour collecting the saliva. He was NOT happy and had one seizure. I was thrilled as hell. We collected it, put it in the tube, shoved it back in the box and shipped it back off the the 23andme testing lab.

This test is 99 bucks. Yep. I know. It will tell us a few things:

Ancestry - https://www.23andme.com/ancestry/
Composition, relatives, maternal & paternal lineages and neanderthal percentage. They have over 200,000 genotyped members, which is the largest genealogical DNA database in the world.

Carrier Status - https://www.23andme.com/health/all/
This is the big one for us. It will tell his risk for all sorts of genetic conditions. Including Phenylketonuria, which he has NEVER been tested for and we think he may have. Including that there are 50 they test for. Also 120 Disease Risk conditions, 21 drug responses, and 57 traits.

We are interested to see if we learn anything from a 99 dollar saliva test that we haven't been told in 6 years of extensive, pointless and invasive testing.

Now, we wait (how many time have *I* said that) 6 - 8 weeks for results. Oh goodie.

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The Dirty Word

>> Sunday, April 14, 2013

I have been reading posts and blogs and research papers and...and...and....

I realize almost all of us affected by epilepsy keep using the same statement:

Epilepsy has no cure.

But why? Why do we keep telling ourselves it will NEVER be cured. Why can't it?

We have all heard:

Help find a cure for....

Cancer
Multiple Sclerosis
Crohn's Disease
AIDS
Parkinson's
Ewing's Sarcoma
Leukemia

But we rarely hear, or even acknowledge there could be, a cure for epilepsy (of which some of the above diagnosis have as a symptom)? Are we that hopeless?

Bug is on the road to a cure...medicine needs to catch up with him. We KNOW what is causing his epilepsy and we KNOW that others have been treated and been almost cured. ALMOST. So close and yet so far... especially if we keep saying there is no cure. There could be...and we just aren't seeing it.

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Routinely Inconsistent

>> Friday, April 12, 2013

Sometimes, after Bug seizes, and before he comes completely around, I have to touch all of his fingers, and all of his toes. Like a new Mother does with her infant. I have to reassure myself that all things are in order, and that he is OK. I watch him breathe. I stare into his eyes, usually with no recognition on his part and I think: It will always be this way.

He will always seize. He will never say: Mom, I love you. He will struggle to walk straight lines. And he won't know any different.

The tough part: We do.

We know the boy he was. Every so often, when we see glimpses of 3 year old Bug, we get excited. We think he is coming back. Then, the other shoe drops and we lose him all over again. Losing him once was horrific enough but to lose him time after time after time. It's some sort of cruel trick. In fact it is the worst kind: false hope.

Yesterday, we found out that his EEG hasn't changed since December. That is a very good thing because we removed one of his AED's. Bye Bye forever Dilantin! And we lowered the Lamictal. And while he isn't seizing more, he isn't seizing less either.

I hate that our entire lives are epilepsy. I hate that I live, eat and breathe waiting for the next seizure but we have come to accept it. His little sister isn't even 18 months old and she knows when he is seizing. She runs to him and pats him, she says: Buddy Ok? Over and over.

But I love that he doesn't slow down. That he is smiling less than 10 minutes after a seizure. I love that he is playing and vying for my attention. Mostly, I love that he is mine and he is still here.

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Purple Day!

>> Tuesday, March 26, 2013

We love purple day, even when the boy is sick (two years running) and seizing (7 years).

Purple Day reminds us that we are not alone in battling this condition, that we have MILLIONS of people around the world, of every race, every religion, every gender and age, that are affected by it. It reminds us that there are people that will not look at our beautiful boy and see a non verbal, seizing child but will see Bug: a happy, accepting, non verbal, seizing child that is like so many other children.

My son was not supposed to wake up every morning and have a seizure, he was not supposed to take multiple trips to the ER in a few weeks because he is cut and bleeding from hitting something. He was supposed to play soccer, and mix appropriate chemicals together with his Dad in someone's else's kitchen and he was supposed to ride a bike.

But, he does none of those things.

What he does is make people smile. He makes them feel loved by simply making eye contact and smiling. He makes them appreciate living.

And that is better than riding a bike.

Happy Purple Day everyone!

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Surprising is not the word

>> Wednesday, March 6, 2013

There was a bit of concern leading up to this latest appointment for the Bugster, it appears it may have been all for naught.

Why the concern? Because I hadn't heard from the good Doctors in weeks about treating Bug's FRa. We were left with: Dairy free and Leucovorin. Thanks, been doing that for a while now...let's move on.

So, we went in there thinking: we are going to head out of state. Waiting...is NOT an option anymore.

What we left with was everything we wanted and a little more.

Before each appointment, Glenn asks me: What is your goal?
And we work out the details. This time we decided that we wanted the following things:

An EEG - so we can begin the taper of Lamictal and have a baseline by which we can compare once the Lamictal is removed. His last EEG was somewhat interesting. The tech let it slip that it had never looked so good, since she had been taping him. Glenn and I were thrilled. Thank you Leucovorin? Or was it Dilantin? Now that he is off the Dilantin, we need the EEG to compare so we can openly say: Thank you Leuvocorin. Dr. F looked at the EEG notes and raised an eyebrow. He said: It does show a good improvement. Hooray! (The Hooray is me not the Dr.)

An LP - Once the EEG is established, the LP needs to be done to see where he is with his 5-MTHF production. You will recall, that is what was lacking in the Bug Man...he was low on that Neurotransmitter. It will be a year in May so we need to see if the Leucovorin has raised the level enough or if we need to up it.

FRa Plan - This one was not dependent on Dr. F...he is not a specialist in this area but we wanted him to light a fire under the specialist. She should have learned enough about it in the last 2 months....so lets get on this already.

Those are the big ones. Here's what we were given:

An EEG
An LP
An FRa Plan
Lamictal level (how did we miss this?)

We asked and he said: Valid ideas all. And how about we see what his Lamictal level is like now that the Dilantin is gone? Dilantin reduces the efficacy of the Lamictal so...he may be higher than he needs to be on the Lamictal now.

We were thrilled. Glenn and I got the kids out in the car and the FIRST thing I said: Holy crap that was cool.

He will be getting the EEG next Monday because we couldn't do it that day and the LP will be scheduled soon. We had the Lamictal level pulled (yesterday) and Dr. F is going to call the Neuro Rheumatologist and tell her to move forward with the treatment. Bug is doing so well, we need to take this one step further. He was very pleased with Bug's progress. Which is great because so are we.

Still saying it: Holy crap that was cool.

- Posted using BlogPress from my iPad

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Rare Disease Day

>> Thursday, February 28, 2013

I should have posted earlier, but I was too busy helping to promote more awareness about Rare Diseases. How does that make sense? :)

Bug was spotlighted by the Epilepsy Association of Utah as the first in a series about rare diseases in honor of Rare Disease Day today. To be clear: I was ASKED to provide it...I didn't just give it up because of my involvement.

Now about Bug being rare. Anyone that has met him knows he is magic and he is special. Not just special needs kind of special but truly a beautiful person. He is smiling when most would be giving up. He is hugging when most people would be holed up feeling sorry for themselves. So about the magic...when he smiles, he makes everyone around him smile. There is a magic in the boy that is the best kind of magic: he can make people happy.

Now about the disease part. Bug has a few things going on:

MTHFR - Methyltetrahydrofolate Reductase, inherited from me, he has one allele. It causes him to not be able to absorb B Vitamins properly and therefore convert to folate. This was detected first. 40% of the population has this and most don't know about it. Untreated, it can cause heart disease, stroke, thrombosis and all sorts of other things. Because B Vitamins are also essential in forming red blood cells, his red blood cells have always been a little high...his body is trying to compensate. They are not treating him for this AT ALL. Because they say that one allele will not cause symptoms. I don't agree but finding a specialist has been difficult. I might have one now though. We will see.

CFD - Cerebral Folate Defiency. This is the one I wrote about. It's fairly rare but is being seen more and more in children with Autism. It is detected by a lumbar puncture. His CSF (Cerebral Spinal Fluid) levels were normal (which is good but also odd) but his 5-MTHF (5 - Methyltetrahydrofolate) is lowish. His treatment is Leucovorin. Because he does not absorb folate well, he needed an analog folate, one that passes the blood brain barrier without major breakdown, the Leucovorin does just this. Folic Acid does not help. He needs the big guns.

FRa - After getting the CFD diagnosis, I went online searching for what to do next. I trust but verify, you see. A few clicks here and there and I found that Folate Reductase Autoantibody has been showing up in CFD patients with similar symptoms as Bug. It is another rare condition. This one is the biatch. NO ONE in Utah has heard of it, or treated it. We are on our own until I can talk sweetly and promise the sun, moon and stars to someone. So, he is also NOT being treated for this in any way. Bummer huh?

It's been a long road with many more miles ahead of us. I keep reminding myself that if we hadn't pushed for testing he might not be here. He was going downhill fast for a while there. Makes me glad I am as pushy as I am but I need to push more and push harder. We are at the junction again, we can take the known road and keep treating the seizures with medications that make the FRa and CFD worse or we can treat the FRa and remove the seizure medications. We will win and we will help him. He deserves it. After all, he is magic.

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The Great Take Away

>> Tuesday, February 5, 2013

We have been lowering Bug's Phenytoin (Dilantin) for the last few months. He is doing remarkably well, seizure-wise, driving me insane behavior-wise.

For the last 10 days, since we took him WAAAY down, he has been averaging 1-2 seizures a day. Not bad, not bad at all. Yesterday he had 3 but today, he is back to only one with less than a half hour to medication. Going well, I would say. I WOULD say except...

He is back to hyper as hell. And I mean hyper as hell. Although, he is sleeping really well. The Clonazepam is still making him clumsy and the lessening of the Phenytoin is making him happy, and verbal. Somewhat verbal. Says Mom at least a few times a week but will NOT mimic. Clumsy and happy is just a disaster. I have been injured everyday for the last week because of his hyperactivity and me having to corral it. Currently, I am relieved he didn't break my toe or crack Ava's head open because he keeps forgetting she is around while spinning his toys.

But, his eye contact is longer and better than it has been in years. He seems more present and will OCCASIONALLY follow directions. Sadly, those occasions seem to be once a month. But, oh well, it's a start.

The truly tough part is the eating habits have gotten worse. Which is messy and gross. In this, we are back to square one. Only Ava is messier, and that's not by much. The quantity that she produces is much smaller. Even the Roomba can't keep up. Sigh.

What we also learned is that magic year, that 'let's make it a year and we should see THE difference' is actually 3 years. Yep, it can take, and usually does take, up to 3 years to gain back what was lost, if possible. Finding that out was almost as heart wrenching as finding out that no Doctor in Utah will treat him.

That was the big one. The really big one. I mean, how in the living hell can they make him worse than 4 status in 18 months? He is strong and just about the healthiest of us all. Why then, will they not suppress his Autoantibody? This kid has been ignored. Again. We are so close to being able to really help him and then we hear:

We want to try dairy free and Leucovorin for awhile.

Hello? Did I not tell you he has been diary free and on Leucovorin for 8 months? Let's move passed this. And I haven't heard back.

I heard a commercial on KSL radio that set me off...O-F-F, I say. They said something to the effect: We are telling your stories, your Mother, Father, your sons and your daughters stories. Uh...no you aren't. Anytime we say Epilepsy to them they shudder and tell us it's not 'human interest' enough. Direct quote: "Not enough people are interested". It seems that way doesn't it? Not even the Doctors give a crap.

Bitter? You betcha!

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ER and a lost 24 hours

>> Monday, January 14, 2013

Yesterday was a bad seizure day. Not that he had a lot of seizures, considering the weather 5 is not unusual. BUT, he started it off hitting his nose JUST RIGHT and giving himself a bloody nose. Bummer. Didn't stop him though, still pretty active and by 3pm he had only had 1 seizure so I commented (out loud, like and idiot): Hey, by this time yesterday he had 4 seizures, so let's hope he's turned the corner.

Promptly ten minutes later; seizure number 2.

Followed throughout the evening with 3 more, it was the last one that threw us for a loop. He went Tonic, locked his hands over his head and fell over. He slid down the chair and gently landed on the floor. Didn't seem bad, except....

He loves to take his one big tooth and bite his lip off and on. He was in the middle of this biting when he seized. So, he locked up, his jaw clenched and he bit through his lip. From the outside in, again. This time, it was worse. I looked at the size of the cut and knew it would probably require a stitch or two. Off to the ER we went.

Bug and I were in and out in 90 minutes with 1 stitch. He was a champ. Daddy stayed home because it was getting late and the girls needed to be fed and put in bed.

By the time we got home, he was smiling and happy. Good sign. So we let him stay up to almost 11 (we got home at 9:35) and he went blissfully to bed. For 13 hours.

Today, he has been awake for MAYBE 4 hours all day. WTH? Mostly, I was concerned at first. But, maybe he is just healing and his body is shutting down to let that happen. He ate a big lunch so I am not concerned about that, and he drank two huge bottles of water, also not a concern. Just the sleeping.

I am so used to him sleeping normally, that this throws me into checking him every hour or less. His O2 is good: 97. His heart rate says: I am REALLY asleep at 77bpm. He is just sleeping well. With only two seizures that I know about.

After a long day of wondering I realized that 5 years ago, this would have meant ONE thing: seizure type change. So, maybe it does again. MAYBE we will see a change in seizures and MAYBE it could be good.

Or...he will wake up in the middle of the night (or now) with a fever. Hmmm...

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Tomorrow

>> Thursday, January 10, 2013

I was telling Tay that I may or may not make it to her production in school tomorrow. I explained that this appointment Bug has is a big one. It's with an Immunologist.

I asked if she remembers how Bug doesn't seize when he has a fever. Well, I explained, that's because his immune system is fighting the invader it is ignoring the landlord.

Once she understood the finer details (about immunosuppressants) she said:

And this could cure Bug?

I was taken aback, really. Because the answer is yes. Yes it could. He would have to follow the regime for a long time, maybe forever, but it could, REALLY cure him.

I have never thought about this FRa, and CFD and ASD and all of the other TLA's (Three letter acronyms - thank you Glenn - that's still one of my favorites) being actually CUREABLE. Just treatable. And, in a way, constant treatment isn't really a cure, is it? But if it helps him, if it allows him to communicate better, if it allows him to see the world from a standing position instead of on the ground, then, hell, that's a cure for me.

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A little bit of normal

>> Wednesday, January 2, 2013

And a lot of Bug. :)

He was fun and happy and very vocal today. With one big -ish seizure and two iffies. Pretty cool compared to yesterday.

Yesterday he totaled 6 seizures and 3 poop filled diapers. AH HA! So, that's why the 6. Yep, intestinal irregularities kick off seizures in Bug.

Today, was a lot more normal. He even watched a fair amount of TV, when we had it on, and would STOP spinning to watch. This is a bit of a big deal really. Usually, the play continues but it was, as if, he was actually paying attention. Cool, huh?

He took a late bath and is just glowing. This child is truly beautiful, inside and out. But he is still snotty and probably can't go to school tomorrow. Although one never knows, it's probably another day at home for the Bugster. I'm not complaining. He's warm, he likes to cuddle and he is almost saying Mama daily. I'll take it. Boy, will I take it.

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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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