What Christmas?

>> Sunday, December 30, 2012

The house, was sick.

Not THE HOUSE, the people in our house. This means ONE thing to us (since we are used to boogers) Bug will seize like crazy and then...a few days of NO seizures.

Yep, it's part of the Folate Autoantibody. When he is getting sick, his immune system ramps up and BAM! more seizures. When he has a fever, he has absolutely NO seizures. NONE. This time he had the fever for only 12 hours. He was miserable, but he was seizure free for 3 days. Now, he is feeling better, he is averaging one (1) a day. ONE. He had two the other day, but for the last 4 days...one a day. Hooray. Very much hooray.

And to top it off, I possibly found a Doctor that is familiar enough with MTHFR that he MAY be familiar with FRa and CFD and Epilepsy. Good Christmas...a little gross and a lot of Ibuprofen gifts but all in all...good Christmas.

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A pleasant and unpleasant day

>> Tuesday, December 11, 2012

An eventful day.

And I mean that in a couple of ways.

We made it to our appointment with the NP at PCMC Riverton, a few minutes late, because the Bugster had a seizure as we were getting in the car. We waited for him to recover, dropped off Tay and got on the freeway.

The wait for the NP wasn't long. When he entered, he noted that we had seen a different Neuro yesterday and asked why we were even there with him. Valid question.

We explained: We had thought we might wait to treat the FRa and we will, change one variable at a time you see, but that doesn't mean we shouldn't TALK to an Immunologist about the FRa and FORMULATE a treatment plan once he is weaned. Especially since NO Immunologist has treated this before. He/She will need time to learn about it and HOPEFULLY, they will learn about it. The NP agreed and he wrote a referral.

Glenn updated him on the plan to wean the Phenytoin and he asked: Where were you doing the EEG?

Provo, I said.

Oh, well, let me see if you can do it here, today. Would that be OK?

Would it? You betcha.

30 minutes later they were hooking him up. How cool is that?

The EEG looked pretty good, in fact, it looked really good, better than it has in years. Oh goodie! So that makes the rest of the day surprising.

Glenn had an emergency crown repair on his tooth which was worse than anyone thought. While he was in with the Dentist, I took the Bugster to school. As we pulled up to the doors, he seized. It was a full 60 second Tonic and took him almost 20 minutes to recover. So, I turned right around and took him back to wait for Daddy. An hour and 20 minutes later, he seized AGAIN. And he hasn't been right since. He has had quite a few quick myoclonic seizures, I have seen 3 in the hour I have been home. Nothing major but WTH?

So tomorrow, I start the wean. Nervous is an understatement. Couple that with excitement at possibly making progress and I might throw up before the week is out.

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The New Plan

>> Monday, December 10, 2012

The new plan is both exciting and scary as hell.

We know that the two AED's (Anti Epilepsy Drugs) that help our little prince the most, also make his Folate condition worse. At least in theory. Knowing this, we have no choice but to take him off them and hope for the best. Only then can we see if the Leucovorin is being successful, because right now, the medications could be negating the treatment. In essence, we are taking him back to ground zero. Starting at scratch. Zero.

So, the plan:

1. Have an EEG.

2. Reduce the Phenytoin by .25ml a dose daily (that's a little tricky, I will give him 1.25, 1.5 and 1.5 the first day, then I will give him 1.25, 1.25 and 1.5 the second day and so on until we are down to 1ml 3x daily)

3. Have another EEG when new target is reached and determine if we will continue or modify the wean.

It should take a few weeks but we have to do it slowly for a few reasons. First, we don't want withdrawals. Second, we don't want to shock his system into seizing. Third, we don't want to send him into Status, we want to give him enough time to process the changes.

Glenn and I agreed that the EEG was key in determining whether or not we were harming or helping, and the Doc agreed. Hooray!

Arranging the EEG immediately. Wahoo.

We are NOT treating the Auto Antibody at the moment. I am very uncomfortable about this but we have to to one thing at a time. Change one variable and his folate issues are fairly complex and it is not known if the meds are making it worse, or creating it. Doc said:

No one in Utah will treat him for this. I guarantee it.

It's nothing I haven't already heard, but it is still shocking. NO ONE CAN or NO ONE WILL? It unsettles me. There are other children in the State with this condition, albeit, not as bad as Bug has it, but don't they deserve treatment as well? And who will champion that? Why isn't there ANY Doctor in this state that wants to help these children?

With no recourse, we help him ourselves, as best we can and then we take him to Arkansas in July.

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Well Wahoo! Happy Birthday Bug!

>> Wednesday, December 5, 2012

Venting sometimes is very fruitful. Then again, so is asking someone for help. Who knew?

I asked and I received. A very sweet lady gave me the name of a Pediatric Neurologist outside of PCMC. Oh, hooray!

Bug had two seizures that were ugly yesterday and a few minor ones, today...I haven't seen any. It's a little Birthday present maybe.

My little warrior is 10 years old today. An entire decade has gone by with his sweet smile enlightening everyone he meets. A decade of chirping and humming and spinning and cuddles. He is all the is happy and all that is challenging in this world. And I wouldn't want to have missed one minute of it.

He is beautiful and he may have a new hope. Another new hope. We will find out on Monday...yep...called today...got an appointment MONDAY! Take that PCMC! Apparently, a few Mothers have received their child's diagnosis from HIM. Looking forward to this conversation with and actually diagnostician and not just a Doctor.

It was the BEST birthday present ever. Or, at least I hope so.

Now, fingers crossed for no seizures tonight...or tomorrow...or the next day. How awesome would that be? Too much to ask?

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Despair amongst the hope

>> Tuesday, December 4, 2012


There are only so many negative statements one can hear before they give in. Before he or she says: OK, you win.

That breaking point is different for every person. For some, they claim they never entertain the idea of throwing in the towel. For others they avoid the situation altogether so they never hit a giving up point, they simply never engage. And then, there are those that fight and fight and finally say, after a very long and particularly bad set of circumstances, I give up. How many times can one hear: ' this may be as good as it gets', or 'it may be case of bad brain and you need to get used to it', and my favorite to date is 'what more do you think we should do?'

What more? Everything. Everything you haven't tried, everything that might not make sense but you should try.

Bug has been having more seizures lately. The one I just saw, has him almost vegetative. Apparently, I am the only one that wants to so something about this immediately.

3 ER trips in 5 weeks and we still don't get stepped up in the queue. Still Primary Children's Neurology says we have to wait 5 months. What good is that to Bug? That's over 400 seizures. So I did what I never do....I settled for a Nurse Practitioner. The reason I don't usually sign up for an appointment with the NP is simple: to get anything approved you still have to wait for the Doctor. And with Bugs diagnosis...I will have to explain it, yet again, and fight the fight and then settle on waiting because the NP has no clue what to do. Seriously? And this is not socialized medicine yet. How much worse can it be? Their waiting to test Bug may be the reason he is lost to us, probably forever.

Because I have heard twice: it may be too late.

So, I sit here deciding where to go and how to digest this. Meantime, I feel like I am watching him die. Merry Christmas.


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A few days

>> Sunday, December 2, 2012

A few remarkable and craptastic days. Let's recap shall we?

First: Friday. We headed to Ogden after school to celebrate Lil Miss' 1st birthday and Papa and Nana's 49th wedding anniversary. It was a hoot. He had a few minor seizures, including one at the Olive Garden as I was ordering his food, but nothing too big. Kind of lethargic all evening and fell asleep on me immediately following a few bites of food.

Next: Saturday morning I took Daddy to the airport to fly across the pond. While I was gone, Papa saw a T/C that lasted about a minute. Damn.

Several more smaller ones throughout the day. And then that evening...

Papa is a member of a model train club. One of the largest and most active ones in the Country and we LOVE the things they do. Every year, they have a Christmas Party. They buy all the children toys (the members fill out cards about ages, gender, etc...) and Santa Visits. It doubles as their membership meeting. They do it right.

We have been attending for 6 years now and until last night, Bug had sat on Santa's lap ONCE. Glenn took him, he didn't care, he only wanted off. But last night, Bug had a seizure as Santa was entering. It wasn't too substantial, but I thought it might have been big enough that he would sleep. He was looking sleepy, but he just sat there.

A few minutes into it, Taylor went over with her cards to talk to Santa and to get a present for herself and for Ava. Ava, wanted NOTHING to do with the Jolly Old Elf and Papa ended up holding her because I was busy with Bug.

I go it in my head that I would at least take him over to watch the kids. How can he learn to be a consumerist if we never let him embrace it? :) Actually, I had been crying and I needed to feel that he was a part of something that almost every other child on the planet cared a great deal about. So, I wheeled him over (he was in his new ride) and we sat there watching, holding hands, with me choking back the tears.

And then something wonderful happened. He stood up, took me by the hand, walked in circles and then headed toward Santa. It took us a few minutes to get through all the children and their parents but when we got there, I sat down and Bug sat on my lap. We waited our turn. When it was just Bug and another little girl, her Mother told us to go first. I said: Are you sure? He may take awhile. She smiled. I'm sure, she said. She had been watching him.

I stood him up and steadied him while he walked to Santa. He climbed on his lap, with a little help from Santa, and buried his head in his chest, grabbed onto his coat and then looked him in the eye.

Let me say that again: He LOOKED HIM IN THE EYES. I was standing less than 12 inches away and he paid no attention to me. I explained that Bug would not tell him what he wanted for Christmas because he is non verbal and has a severe Epilepsy, but anything that spins would be awesome. Santa looked at me an smiled and said: What a beautiful and very special little boy. He did this with the look of a loving Grandpa. I have always enjoyed this man, he is amazing, but this, sealed the deal: He is the real Santa to me. He was kind and he held Bug gently and talked to him with sweet words and reassured him. And he saw I was almost crying as did the lovely lady that had purchased and was handing out the presents. She asked about him and I found out that she is a Special Needs Bus Driver in Davis County who used to drive for Dan Peterson School.

We took the present, said thank you and Merry Christmas about 4 times, all the while with Santa reassuring that it would all be OK, and then we went back to the table to open his present. And Bug almost opened the present! He pulled at the paper twice and then was done. This is what he has been doing off and on for a week...he's there and then...he isn't. It's scary and concerning and I hate it. But when he saw that toy...he perked up and was all smiles and happy the rest of the night. It was a good evening with no more seizures.

Today was something else. 4 seizures, two fairly large. Then, I found out he was constipated. Hopefully, he is feeling a bit better but he didn't look like it when he went to sleep. The last two nights, he has been having a seizure around 4 am. I was sleeping by him at Papa and Nana's or I would not have known. At least they don't wake him up. He seizes and then goes right back to sleep. Let's hope he doesn't have any, but if he does, let's hope he sleeps through it.

I can not detail the kind of frustrated and helpless I feel at the moment. I feel like I am watching him get worse and worse and I am just waiting. So, tomorrow, I will call Dr. Quadros and ask him what to do and see if I can find another Doctor that will NOT put us off for 5 months once I tell him that the medication is making him worse. Utah has me feeling like I am almost alone in this battle. But, I will change that.

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A new direction

>> Thursday, November 29, 2012

Bug's seizures have been lessened as of late. He is still having them though, with some large ones here and there, but for the most part, they are short. His most frequent, and new seizures, are very quick tonic where he looks up and his head throws back and his arms goes stiff. They last about 5 seconds. Next to impossible to video, darn it.

He is home sick today. He slept for almost 13 hours and once he ate a little breakfast, went back to sleep for another hour. So, I kept him home. He has been playing quietly, and not being very active. Every so often he comes over to me and cuddles up. It's adorable. So maybe, I kept him home for me, more than for him. :)

With what we found out about Lamictal and Phenytoin I researched more, and we got lucky. I sent a friend request to the woman that talked about Lamictal and she added me to an Autism Group. I was stunned with the threads in the group. So high level, and almost EVERY one of them mentioned one of three doctors that developed the FRa Test. These women...they will be the ones to really help Bug. I found a lot of good, practical information from other parents who have children that are FRa positive and have CFD. Very exciting.

It doesn't seem that it should be this difficult to find a Doctor in Utah that has experience with these but it is. And really, why? There are an amazing amount of children in Utah and a fair share have an Autism diagnosis...so where are the specialists? Are they in hiding or is this another typical Utah thing? We just don't talk about it? Either way, it's very frustrating.

I never thought I would have to become an expert on Autism, but it seems, that in order to get the treatment he needs, I need to walk the walk and talk the talk and heaven forbid they should NOT know anything about Epilepsy. THAT could get ugly.

I have spoken with Autism Specialists in California in the past and that left a very unpleasant taste in my mouth. The two struck me as greedy and arrogant. One, wanted 750$ just to talk to him and then each appointment would be a minimum of 500$ and he did not deal with Insurance so any of the testing he wanted to do would be above and beyond the appointment cost. He recommended that we meet every month, maybe twice a month, just to begin.

The second, wanted me to 'understand' that there was no miracle cure and that Jenny McCarthy was an idiot. THIS offended me to no end. Idiot or not, her son improved and if that means she sacrificed a chicken every day for 30 days, I don't care. She saw results. You can not argue with that. Placebo or not...if it works...shut up.

So, our new direction is Autism. Should be interesting. Wish us luck.

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One step forward.

>> Tuesday, November 27, 2012

And two back.

Just found out, that the test we are waiting for, the one that will tell us if the Prednisone helped lower his autoantibody might never be sent.

The ONLY Lab in the WORLD that does this test is in New York, and they have a spiffy Compliance Officer that has shut it down until he does an audit.

Pissed off is not the right phrase. More silly bureaucratic bullshit. Seems like common sense and helping people are contrary to University Rules. I guess it makes sense: They never took a hippocratic oath.

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What the...????

Glenn has often wondered why I frequent Facebook. He no longer wonders.

In the course of reading through posts in Kids With Epilepsy I came across a fact that I had not heard before:

Lamictal can inhibit Folate.

What? It's an Na Blocker...SODIUM...not Folate. But, oh, how it is. I researched and sure enough, on GSK's own .PDF about Lamictal we find this:

"Folate concentrations were also reduced in male rats given repeated oral doses of lamotrigine. Reduced concentrations were partially returned to normal when supplemented with folinic acid."

Knowing that Lamictal and Phenytoin have a similar mechanism of action I decided to look into that as well and what did I find?

"Serum folate decreases when phenytoin therapy is initiated alone with no folate supplementation. Folic acid supplementation in folate-deficient patients with epilepsy changes the pharmacokinetics of phenytoin, usually leading to lower serum phenytoin concentrations and possible seizure breakthrough. Folate is hypothesized to be a cofactor in phenytoin metabolism and may be responsible for the "pseudo-steady-state," which is a concentration where phenytoin appears to be at steady-state, but in reality, is not. Phenytoin and folic acid therapy initiated concomitantly prevents decreased folate and phenytoin obtains steady-state concentrations sooner." - 1995 Jul-Aug;29(7-8):726-35.
Phenytoin-folic acid interaction.
Lewis DP, Van Dyke DC, Willhite LA, Stumbo PJ, Berg MJ.
Source
College of Pharmacy, University of Iowa, Iowa City 52242, USA.


Why is this important? Because Bug has folate issues anyway, his body fights it and his brain is starved of it and we are inhibiting that. Oh goodie. Now, we are supplementing him with Folinic Acid but...we are also fighting ourselves. Making it worse, while trying to help.

I also found that there are additional Genetic tests that can be performed to see if he has a mutation.

I could cry.

Bug had a bad seizure at school yesterday. They had never seen such a dramatic Tonic Clonic before. From the description, it sounds like he had some Todd's Paralysis after as well. Damn. So, I am in research mode and not very happy. BUT, that is how things get done, and how we find answers and how we help our little man. He has an appointment in March to discuss this with his Neuro. What are the odds I will wait that long?

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A new baseline

>> Monday, November 19, 2012

It seems that Bug MUST have 2 seizures a day. One in the morning (after he has burned through his meds) and one in the evening (once he burns through his meds).

I called the Doc, who told me to call after a few weeks on the new level of Lamictal and left a message that he was doing better but can we up it again. Upping the level was suggested by the Doc so, I thought, no biggie.

BUT, true to form, left a message, and have heard NOTHING for two weeks. NOTHING. Again.

If the Doc says: Call me with an update, shouldn't you think that someone would answer the damn phone?

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The stunning statistic

>> Friday, November 16, 2012

I feel the need to stress one particular statistic today.

1 in 10 people will have a seizure in their lifetime.


This is more powerful than actually being diagnosed with Epilepsy for ONE reason: More than twice the people diagnosed know what a seizure is like. And it came out of the blue.

With Bug, he was a healthy, happy, although non verbal, beautiful child one day and then next...he had a Epilepsy.

We awoke one morning in our routine, two happy babies, one tired Mommy and a busy Daddy getting ready for work. Two diapers were changed, one Daddy left for work, two children were fed and happy and we all sat down to play. And we played. Two naps were taken (Mommy tried but it didn't work) and then we all took a shower. Then Bug fell. Suddenly, with impact, on the shower floor. I took care of the baby, and moved him, once he responded, to my bedroom, put a diaper on him, wrapped him in a blanket and fetched the baby, who was wiggling on the floor in bathroom, happily cooing.

When I came back into my bedroom, he was asleep. I let him sleep. And he did, for three hours!

When he awoke from that nap, he came downstairs and promptly had a massive Tonic/Clonic seizure. We were in the Hospital for three hours, running tests and hearing: Normal. Normal. Normal. All test were normal. His seizure may have been normal. Nothing to do but wait and see.

The rest is history.

That's how quickly he became a statistic to the medical community. He was treated like a statistic for a lot of years, but we always treated him like a little boy. A warrior, a child with strength beyond that of Hercules. Because he always lifts himself up and he always goes on. That's a statistic they don't track: How many persevere?

1 in 10 people will have a seizure in their lifetime. Do you know what to do?

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I really hate waiting

>> Wednesday, November 14, 2012

I have mentioned before that it will take about a year to know if the Leucovorin is helping Bug. A year.

I ruminated on this today a little. It was a simple statement I made that brought it home with a vengeance: I HATE waiting.

For 6 years we had no diagnosis. We heard idiopathic so much that I started getting pissy with any Doctor that said it. Yes, me, pissy. Who knew? My standard answer was: I don't believe that. It's a cop out. What you mean is: We DON'T KNOW. It's OK not to know, just don't give up trying to find out. Don't hide behind that easy term.

So, for 6 years, we threw every idea we had at them. Here's a little list of things they had to tolerate:

Benign Rolandic Epilepsy
Landau Kleffner
Lennox Gestaut
Angleman's Syndrome
West's Syndrome
Dravet variant
Diabetes (that was an easy one to rule out)
Low Glucose in CSF (Cerebral Spinal Fluid)
High Protein in CSF
Auto Immune Disease
Hypothalamic Tumor

And of all of those they tested for everything BUT the CSF levels and Auto Immune.

If they had, we would have had a diagnosis when he was 4. That's right, 4. So many years wasted because of arrogance or ignorance, and I can't decide which is worse.

We waited, and we never gave up trying to find that answer. Idiopathic was not allowed.

Then we found it. And now, we wait again.

Wait, wait, wait.

I waited for him to be born, I looked forward to waiting for him to grow up, then I had to wait to see if he would have another seizure or was that first one a fluke? We waited to see Doctors, we waited for test results, we waited to even have the tests performed (6 months for an MRI in California), then we waited, holding our breath for his first medication to kick in. That took 3 months to reach the therapeutic dosage, all the while, waiting to see if he would have a life threatening reaction (Truly, the medication could have killed him. Aren't AED's lovely?). We waited to have the genetics test to see if he had any of the 'Big Ones'. We heard: We need to wait for Genetics to catch up to him, we KNOW he has something genetic but we can't yet identify it. And once, in the hospital, we waited to see if he would recover or if he would crash and die. It was after that time that we got the test he needed and then we were told it was normal. When it wasn't.

A year later, we had the results and now, we wait another year. We are 6 months into treatment and it still may take longer to know.

I really hate waiting.


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That point

>> Friday, October 26, 2012

There comes a point when, no matter what logic says, you will try almost anything. That is how it is with chronic conditions. It's not a breaking point, it's not really a turning point, in fact, it might be termed a desperation point.

And all one needs is a little positive reinforcement and they will become a true believer.

I have seen this for decades. It started with my OWN experiences: RA, 8 Knee Surgeries, Infertility, Secondary Infertility and then it culminated with Bug.

I have entertained all sorts of alternatives and I have thought about them more and more especially after his fall the other day. Have we done enough to help him?

Then I think: Good heavens, we have done more than his Doctor's have. We pushed and we begged and printed out numerous medical publications (not narrowed to OUR viewpoint but that fit his symptoms) with legitimate provence, and we have held him almost everyday, comforting him while he seizes. One can not comprehend the toll it takes until you have been there. Not that one can not imagine, but imagination is not reality is it?

So, I am back to wondering: What next?

I suppose that all depends on what his latest FRA level tells us. If his level was lowered by the Prednisone, then we will proceded full steam into repressing that Auto Antibody. No diet will effect that, no medication will cure it, all we can do is trick it into going away.

The next test on the list:

Lumbar Puncture

NOT looking forward to that, but how else will we know if the Leucovorin is helping?



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Adding injury to insult

>> Thursday, October 25, 2012

After the day Bug had, I was looking forward to a quiet evening. He was feeling better, smiling and playing and the house was mess because of it. No biggie there, it will eventually be cleaned, but not last night.

I was feeding Ava in preparation for bedtime. Bug was walking around playing and spinning and then I heard the THUD behind me. I turned to see him face down on the floor, arms and legs out.

Shit.

He was only inches from me and inches from the corner of the kitchen cabinets so I prepared for blood.

He whimpered and just laid there.

I rolled him over onto his side in case he was seizing. He wasn't so I pulled him further into the middle of the floor and sat him on me. I saw a considerable amount of blood from him mouth and then saw the tooth.

Shit.

I quickly realized it was his baby tooth that had been holding firm for months. He has a permanent tooth behind it but it wasn't close enough to push the old tooth out. I reached toward the tooth it pull it from him mouth so he didn't choke on it and that's when he went into full, and ugly, T/C.

I will pause here to explain a little. With Bug's condition, and with a lot of people that have Epilepsy, any shock to the system can kick off a seizure. With Bug, it's a guarantee. His seizures are central nervous system related anyway..so this...was bound to happen with an injury.

The seizure lasted about a minute and it hit him hard. We cleaned off as much blood as we could to see if he needed to go to the ER. Then, we saw the little gash on his bottom lip. It needed attention. And then we noticed that the bridge of his nose was a little blue...both Glenn and I decided, at that time, that a CT scan was needed. As we prepped the kids, Bug was very lethargic, more so than with his normal postictal state. And worry set in.

When one walks in carrying a child, bleeding from the mouth, they will walk you right back to the first open room. They know Bug by now, not all of them, but most. He was back in the room, the Doctor was in when I walked back (I dropped Glenn, Bug and Tay off and parked with Ava), which was all of 10 minutes.

Doc decided he might go with a spot of glue on the lip (not normally done but he wanted to avoid knocking the kid out) and a CT scan. Wouldn't you know the CT machine was available AT THAT MOMENT. So they hurried him over. He did superbly. Never before has he had a CT scan and NOT been tied down or sedated, until last night. Hooray! Of course, it was because he was injured and postictal but still...

The glue was placed, the CT scan was good and we went home with a tooth in my pocket.

Bug was miserable. We had to crush his meds up because his lip and tongue were so swollen and obviously hurting.

Now, these meds are NOT supposed to be crushed and now we know why.

Bug slept by me all night, and on me, and every hour he would have a seizure. A mild one, a Tonic for 5 or 10 seconds. It made for a long night, but again, it was to be expected really. His lip is pretty awful but no black eyes. I have a little bit of blood on my nightshirt from where he was laying on me, but it all comes out in the wash.

Now, if we can get him to stop playing with it with his tongue...

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On days when all you can do is laugh

>> Wednesday, October 24, 2012

This morning started out particularly bad.

I woke up 6:30am and could not go back to sleep. I got the baby a bottle at 7:15 and just laid there, thinking.

At around 7:45 I heard gasping and choking. I wondered if it was Ava sucking on her bottle but I quickly realized that it was Bug: Seizing.

I ran upstairs. Usually, by the time one of us gets there he is done and recovering, not this morning. He was still in full T/C.

I made sure he could breathe, lifted his head off of the pillow (he was somewhat turned into it) and waited for it to stop. After about 30 seconds he started the deeper breathing and the convulsions lessened. Once he was done I picked him up and carried him downstairs where the Oxygen is. He cuddled and twitched for about 40 minutes and then he sat up, happy and smiling.

So, deep breath, here's where it starts getting 'fun'.

He was laying on the couch, while I was changing Ava's diaper, and I quickly 'realized' (the smell was overwhelming, it was impossible to ignore) that Bug needed to be changed as well. As I was finishing up with Ava, Bug started to sit up...this simple move was the beginning of the gross. What WAS in his diaper was now leaking onto the couch. Glenn grabbed him and held him in place. I cleaned him and the couch and then we got everyone ready for school. Bug didn't eat. This is not unusual after a T/C of that magnitude so I didn't think much of it. I figured he would just eat a large lunch.

Glenn headed to work and I loaded the threesome into the car and dropped Taylor at school.

Bug's school is less than 5 minutes from Tay's. He didn't make it that long. About a half of a block from his school I heard: gag and splat.

Yep, puked in my car. Now, this is the toughest part of a non verbal child. There is no: Mommy, I don't feel well. No warning whatsoever. There is just Gag and Splat. If one is a lucky Mom then she has the chance to notice 'the look' and try to intercept. But I was driving! Luckily it wasn't much. He had almost emptied himself into the diaper earlier. Thank heavens for small, and yet, disgusting things.

I turned around and took him home. I cried on the way. I know he has a metabolic issue and NO ONE will look into it. Even IF this is a stomach bug, which it probably is, it just brought home how much this child has problems with his stomach and his bowels. When we got home, I cleaned him up, put him on the couch and turned on the TV so he could watch cartoons. Adding to the morning: Rolie Polie Olie was on. I cried again. THIS was 3 year old Bug's favorite cartoon. He would dance and laugh and sit, transfixed, through the entire show. He had action figures and books with Rolie Polie Olie on it. He absolutely loved it. 9 year old Bug, didn't even look at it.



Two more seizures later, several poppy diapers and one more vomit (caught in time) and he was asleep.

By Noon I had the count down: 2 vomits, 7 poopy diapers (between Bug AND Ava), one load of laundry, one van clean out and a small breakfast for Bug. If there is a partridge anywhere in a pear tree I am sure it's gagging.

I can not smell anything but...well...not to be too indelicate...poop. AFTER noon, add 4 more poopy diapers to the count and I can tell (gag) that I need to go take care of one more.

Thank you Lindsey Palmer and Scentsy. Just thank you.

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Where did THAT come from?

>> Monday, October 22, 2012

For the last 4 weeks, Bug has been taking Prednisone, just to see if we can mute the FRA (Folate Reductase Autoantibody).

For the first week he had a stomach illness and was seizing several times a day, and it took us over a week to calm that down and replace the natural flora and fauna in his system. Once we accomplished that, and he was feeling better, we noticed he was going a day or two here and there with NO seizures. I should clarify: with no APPARENT seizures.

The last three days have been, well, kinda fun, sorta interesting and a waiting game. His energy has been through the roof. He is smiling, he is playing and he has only had two seizures that were very mild. Because of his history, we aren't excited though, we are cautious. Hell of a way to live huh? Instead of jumping for joy, we are watching that other shoe.

Now that doesn't mean that we aren't grateful and happy, we just aren't thrilled. Not yet. Instead, we are trying to keep him fed, which is next to impossible since his appetite is back with a vengeance, and keeping an eye out.

The important thing is that he is happy. Very happy. And really, that is all that matters. I will be stealing some of his happiness later today though; he is having his blood drawn again for the FRA test that Quadros performs. We are anxious to see if the Prednisone lowered the titer. If it has, then we will order a CBC (Complete Blood Count) with ALL the bells and whistles just to see what his normal levels look like, because really, we never have seen that. The autoantibody can change A LOT of things and it will be interesting to see if that leads us to something else.

Sounds like fun doesn't it? I guess, for nerds, it is.

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Um...eww and yet awww.

>> Wednesday, October 10, 2012

Poor Bug, poor ickie Bug.

Heck of a morning.

Here's the obligatory disclaimer:

THIS IS ABOUT FECES. DO NOT READ FURTHER IF YOU ARE SENSITIVE


Bug has been constipated for a little while. We gave him Miralax and it helped. A lot. He went 48 hours without a seizure once the Miralax worked, which was AWESOME. And then....

We thought that maybe it worked too well. He has been having runny diapers and seizing 5 times a day for the last 4 days. And then I got a call from his school nurse yesterday:

Glenn has diarrhea.

I explained that it might be an allergy but thank you for letting me know.

Boy, was I wrong. I changed a couple of water-like diapers last night, gave him some yogurt, held him through 4 seizures in an hour and prayed it would get better. It seemed to, for a few hours. He slept peacefully and quietly and then Taylor came downstairs at 6:20am.

What's up Tay? Everything OK?

Her response: I think Bug threw up.

I went upstairs and he was sitting in something alright. I touched his mouth; it was dry.

Uh oh.

I carried him out of the room and then he walked downstairs. Glenn cleaned him up while I cleaned up the bedsheets, and the blankets, one pillow and a stuffed dog. And then, I fully came online and the smell hit me. Dang. It was NOT vomit.

I went downstairs and Glenn said: I don't think it was vomit.

He washed Bug in the bath and I let him stay in the water (once he was clean) for a few minutes. Until he seized.

At that point, we got him out, wrapped him up and I took him into the family room and cuddled with him while he slept. One more seizure and the sun was up. I gave him his meds which made him he perk up but he is still staying home. Hopefully, the poop monster is gone.

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What a handsome lad!

>> Friday, October 5, 2012

I realize, I don't post many pictures of my little prince. For many reasons actually and none that I will detail ;).

But he got his school pictures and well, I have to. He is so handsome. So...

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What was that?

>> Wednesday, October 3, 2012

It certainly was not a pleasant night.

We upped his Lamictal last night.

Innocuous statement. Or at least it WOULD have been.

A few weeks ago, we accidentally double dosed the little man. It wasn't much of a concern because he has been on the higher doses before. With one exception: Lamictal.

And, on that higher dose he didn't seize. For two days. So, we asked Dr. F if we could up the level. His serum level of Lamictal was too low to be therapeutic so...why not? New script in hand and we left happy. ALL of us. Including Bug.

So last night, we gave him another 50mg. And he was giddy. I mean GIDDY. Laughing out loud, big belly laughs...here's the problem: at inappropriate things.

He would NOT sleep. We broke out the Melatonin. It didn't work. OK, it was a low dose, so we gave him another shot of it. Still...no worky. Then one more, just in case. Bringing the total dose to 7.5mg. Completely OK and safe but still...nothing. He was laughing and wiggling and just way too happy.

So, I held onto him, watched some Soccer and prayed he would crash. He didn't. Of course he didn't, that would have been too easy. So, another Clonazepam was ingested and at 12:45am, he began to clam down a little. I was laying on his legs so he couldn't get up (it went Bug, pillow, Mom for the record) and I fell asleep. He was patting me on the back and petting my hair. At 1:15 I woke up and he was looking very worn out. So I laid back on my side and he put his legs over me and fell asleep.

And then I felt him tense up.

It was the first. It wasn't too bad. 10 seconds. I wondered if I dreamed it. And then, at 1:45, another, longer seizure. By 2:45 and the longest yet, I got the Diastat and the Oxygen. But the kid had been VERY smelly most of the night. So I hesitated. What's the point of giving him the Diastat if it will not stay in place? It was a good call, and bad call.

Good call, because the next seizure a few minutes later, and he had a VERY full, and kinda gross diaper. We debated giving him the Diastat at that point BUT....again, would not be too much of a benefit if he is going to clear everything out. 4, maybe 5 more seizures, two uses of Oxygen and it was morning.

Now, there is no giddiness. There is no energy. He is asleep on the couch. Beautifully asleep with no seizures in over an hour. I am sure he is exhausted. He ran a marathon last night. All I did was comfort him. Needless to say, I am extremely tired, very worried and sick to my stomach. Let's hope it was the sick tummy that was getting him, please let it be that. I can't bear the alternative.

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He sleeps with Prince Valium

>> Monday, September 17, 2012

Yep, a whole year passed before we had to break out the Diastat. I was supposed to do that damn Versed but the Diastat is tried and true. And then there is that whole tooth thing. They gave him the Midazolam (Versed) to knock him out to fix his teeth and when he awoke, he seized off and on for hours. At the time he was going 2 to 3 days between seizures. So it really sucked. He hasn't gone more than 36 hours since then and then..there was today.

I don't feel like detailing it. I want to slap, bite, scream and punch. But mostly, I want to curl up next to my handsome Prince, cry and fall asleep holding him.

He missed his 2pm medication.

I have had to go down there everyday since he started school and deliver it to him because Primary Children's Neurology Department has NOT been returning their phone calls. Oh I got a message ONCE and when I called back...NADA for 3 and a half WEEKS. Today, I ran out at 10:00am to get him some diapers for school, they were out. I did the shopping and dropped them off, said hi to the staff, let Ava make them happier (another warrior lost their battle over the weekend) and then headed toward Daddy's work to have lunch.

I hit the Home Depot with plenty of time to get back to get his meds. I priced out what I needed and took Ava to wait for Daddy to be free. At 12:35 we had lunch. At 1:00 Google reminded me about my 1:00 meeting at Bug's school. You know, the reminder that was set for 20 minutes BEFORE the meeting. Ya, Google is starting to compete with Facebook on incompetence of simple things. So, I rushed back to his school. Meeting got over about 2:00 and I left at 2:10 to get his meds, so a few minutes late ins't a big deal. But...because of the !@#$ing construction on EVERY road from his school to our house I got HOME at 2:25. Not enough time before he got on the bus. It's early out today and he leaves the school at 2:30. Shit.

He has missed his 2pm meds before, and nothing happened, but not today. At 3:40 he got home and I put the meds on the counter to give them to him. Then I realized I had to pick up Tay and get her to her Drama class. So I loaded the little monkeys into the car and promptly left the meds on the counter. By the time I realized it, it was too late.

I dropped Tay off and on the way to get him some burgers and to pick up the meds, he seized. Big time. He didn't just go blue...no, not this time, this time he went white and his gums were blue. THIS is a big freaking deal. So I swore. A lot. I swore a lot and I went to get the food and then go get his meds. We waited almost 20 minutes in line at Burger King. And when I got the food, he had another. Shit. Again.

I found some Lamictal in my bag and gave it to him. It wasn't enough. After I picked up Tay, we went home and I gave him his meds. Ava was hungry so I fed her. While feeding her, he had another. It was less intense as the others so I thought his meds were kicking in.

However...

In our house, when he has a fourth in an hour we give him rescue meds. When he had his fourth it had been about an hour and half since the first one but that was close enough. I did the deed, that horribly cruel and oh so necessary deed and waited for him to drift to sleep. It took a long time, almost 30 minutes. But he is asleep now, and I watch his chest rise and fall and I wonder: Why? Why has he been having one a day, two on bad days for almost 3 weeks and then...this. What changed? Luckily I have an appt with Dr. Fantastic on Wednesday to discuss his FRa treatment. Hopefully it will help.

Sadly for you, I filmed the end of his third one. I needed to. I have been feeling like our plight, our boy with Epilepsy, and the Epilepsy itself has been phenomenally ignored and I can't let that happen. People have to know how horrible it is and how heroic the people are that do not give in to it, that keep getting up, that have scar upon scar from their falls and yet...they still wear bikini's. It's important for those you do NOT know what it is like to watch their loved one seize 4 times in an hour and half period, you need to know what it is like. Because maybe then, you will want to help make it stop!

I am sorry but you need to see.

I love you my little prince. And we will win this. I promise.

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Sick Bug

>> Tuesday, September 4, 2012

Poor little Monkey Man is sick again. It happens when school is first in. At least I know it wasn't HIM that got the other kids in class sick. Small consolation.

He hasn't been seizing much. In three days, only minor events. And no real discernable fever either. Since his ear tubes have fallen out I worry about those darn ear infections coming back, but there is no rubbing or tugging and, like I said, no fever. But his cough sounds like it hurts. And that does not make Mama Monkey happy. Still, he is smiling and somewhat happy and eating, although not as much, he is still eating and drinking so that's something.

Nothing new to report on the talking front, but he is being VERY sweet to his littlest sister. I think he may actually like her now. She laughs at him and his spinning and he seems pleased with it. Fingers crossed.

Have I mentioned, I LOVE the camera system? That's him, right there on the left. Sleeping. Next to Taylor. Her bed is is being occupied at the moment, and even when it's not, you find her there. When we force her. My angels. Thank God they are asleep.

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Parenting

>> Wednesday, August 29, 2012

Lately, Bug has been doing pretty well and so I have been ruminating on the last few years. I have come to one conclusion: people are dumb.

First:

The Doctors that did not listen and would not test Bug. They cost us AT LEAST 4 years. I started asking for these tests when we moved back to Utah. I was told they would not tell us anything we didn't already know. Uh huh. How's that working out now?

Second:

Parents with healthy, perfect children like to give useless advice to Special Needs Parents as if they are incapable of parenting. News flash: What we know about parenting would make your head spin off your neck. Because until you clean up puke, then poop, then more poop and then brush his teeth 3 times because of the poop, well until then, I will NOT respect what you have to say. In fact, I will find it downright insulting when you tell me that I just need to be consistent. Ya, I didn't think of that...oh wait...I tried for over a year to get him to eat with a spoon again, and just when he did, he had 6 grand mals and lost the ability. Don't tell me how to raise my child. You don't know the first, or second thing about it. Keep it to yourself.

Third:

If your child has an unknown rash and he ISN'T taking Lamictal, put some Benadryl on it and give it a day. Because YOU are making ME look like an over reactive Mother and they trust me less when I bring my kid in because I think he is in Status. Relax people. Learn what an emergency REALLY is.

And Last:

I know you mean well, or at least I hope you do, but don't tell me that you don't know how I do it. That implies that my child is so bad you can not believe I don't institutionalize him. That last part was little exaggerated, but only a little. Because really, you do know, you would do it to if you weren't so hung up on the lice. Oh and nothing spreads like lice in a Special Needs school, so, sorry, I can't even give you that. Just realize that even though it's not a competition, you are making us feel like it is. And the one thing we special needs Mom's will win is the muted gag reflex of the year.

People, really are dumb. Because they don't know what to say or how to act, so they just spit things out. All you have to do is realize that every day with my child is a blessing, he may be gone tomorrow and what you say may be the last thing I remember you saying about him before he left. Do you want that to be the memory?

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What you find when you aren't looking

>> Tuesday, August 21, 2012

You find that no one around these parts knows how to treat Folate Auto Antibodies. Huh, really?

Yep.

So this is where it gets super cool and reaffirms that we finally have a great team for Bug. His Immunologist called the other day and left a message that, true to form, Vonage transcription service screwed up but the gist is this:

What dosage and of what medication will help him the most? I need help so I can help him.

Cool, right? Hearing a Doctor say: I dont know but I want to find out, can you help me?

Truly, I have NO idea. And after a morning (who are we kidding I have been looking this up for a few weeks/months) of searching, I found only anecdotal evidence of advanced therapy, meaning MORE than the folinic acid. Bummer.

So, I called Captain Doctor Cool's office and they said: Bring in what you want him to look over and we will give it to him. Great.

So I did that. And while I was there, himself walks out and says: Oh, there she is. Now THIS makes me nervous. I ended up giving some paperwork on Folate Auto Antibodies to Dr. Dan and then Spencer and I discussed the remaining stack of paperwork.

Back and forth, give and take, agreement and more agreement and a plan of action that was little more than: I'll email him and you call her and we will see what we can come up with.

Still hadn't given up, either of us, and I went to Bug's school, gave him his meds, marveled that he picked the Ear card when asked what we hear with (it was 50/50 so really, is it THAT impressive yet?) and then left for home. Trying to be tough. I ache to help this child. I really want my Bug back! I miss him a lot lately. It may be watching Ava develop and do the things he used to do that has me missing my first born. I try not to dwell, but for some reason, today was a tough day. Not all are like that, but this one...was.

AND THEN...

The Captain Doctor Cool emails me and it says: "In addition to folinic acid therapy, a dairy free diet and 5-10mg prednisone per day could help bring down the titer. IVIg infusion has a transient dilution effect."

Well now, that was fast. Again. Wow. Ya see, the whole key here is getting the right people in the game. Methinks, Bug has an AWESOME team now.

Thanks Spencer! You are a King among men. But don't get cocky. I am pretty sure I can take ya.


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The Amazing Dr. Dravet

>> Wednesday, August 15, 2012

Where to begin?

Oh yes, at the beginning.

A few months back, I got an excited call from Kris of the Epilepsy Association, she was excited because, even though Utah was NOT picked for the annual Dravet Conference, she had spoken with Dr. Dravet herself. The good Doctor agreed to visit Utah. And so she did.

Dr. Charlotte Dravet is a legend, no, not just a legend, a rockstar in the Epilepsy Community. To say we were excited she agreed to come, is the biggest understatement in the history of understatements. Even more unreal: I got to spend time with her.

And she is wonderful. She is bright, charming, humble, brilliant, compassionate, curious and a force of nature.

When she landed in Utah, after a direct flight from Paris, we found that Delta, had graciously lost her luggage. They found it, on the ground, in Paris. Auspicious beginning. They delivered it to her the next day, and it didn't phase her at all. She brushed it off as if it was a small fly. Most people I know would stroke out over it.

We thought she would want to rest, and she did, for about 2 hours and then they took her to Park City for the evening. Day 1. Complete.

The next day, Sunday, we took her to Temple Square to hear the Choir and take a tour. A special, insiders tour that Kris arranged. Before the performance, Spencer Kinard does a compulsory welcome to visiting dignitaries and various groups. When he welcomed Dr. Dravet, she gasped and grabbed my arm: Oh! That's me!

I had to giggle. This powerhouse of brilliance was giddy about her welcome. It set the tone for the trip. She was truly humbled that we made such a big deal out of her visit. The Choir, as always, gave a wonderful performance, a very moving and touching performance, and Dr. Dravet and I exchanged small talk every so often. Note to self: Learn more facts about some of the cooler things in Utah before the world class Doctor makes you feel like an idiot for not knowing that the Conference Center holds over 20,000 people. Never in my life, have I ever wished I could converse in French, until that moment. Still, her command of the language was excellent, even though she apologized often for not understanding, I always felt it was I who was missing something.

After the Performance, I went home to fetch Glenn and we picked up the rest of the gang and Dr. Dravet and headed west. To the Desert. Skirting the southern edge of the Great Salt Lake and onto the Bonneville Salt Flats.

I have never been to the Salt Flats, through, but never TO. Topping it off: There was a race that weekend. Glenn had a running commentary on how the lake and the surrounding mountains were made. Complete with nerdilcious Geology terms. Dr. Dravet enjoyed it. I believe, we all enjoyed it. Day 2 Complete

The next day we had our appointment. We were late, they were late, it was all good. We shared his history, she looked at his EEG and said:

He does not have Dravet Syndrome.

We agreed we knew this, and talked a little about his auto antibody. She smiled as we talked about it and went back to the EEG. She read it again and then said:

Have you tried Cortisone?

Glenn and I looked at each other and smiled. Glenn told her it was on the table. To which she replied:

It could be metabolic, or immunologic. Has he had his vaccines?

Yes, we said, he is current and he clusters after them. She said:

Ah, has he been tested for the antibodies against the vaccines?

LIGHTBULB! Well, no. No he has not. YET.

She explained: It would show if he has an immune problem.

We did the head slap and the: DOH! after we left the room (Then we flew into a long discussion about the implications of such an easy test. And I called and left a message with Bug's Immunologist).

She agreed that we are on the right path. That he would probably benefit from the steroids and immunoglobulin. Considering we didn't even mention that we were trying to get IVIG for him, this was validation in spades!

We left with renewed hope that those two things: Steroids and IVIG will help him. We left knowing that we are on the right track, and left knowing that one of the top minds has seen our boy and confirmed that he has hope.

Day 3 Complete.

We spent two more days with her, off and on. We toured the UofU research lab, had a lovely dinner and she gave a lecture to a roomful of Doctors, Parents and Research Assistants. She laughed with Glenn and I and we grew to understand that this woman is unique to this world. She graced us with her vibrance and her energy. It was a breathtaking experience, a truly wonderful time and I am VERY blessed to have had her attention for even a brief moment. And after a whirlwind visit, she is off to Minnesota. Amazing, just amazing.

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One stupid thing

>> Sunday, August 5, 2012

And I can't shake the sadness. One seizure today. But it was a wild one.

We were just leaving the Evanston Train Show for our two hour ride home. Glenn, Bug and Uncle Scot where already in the car when I started walking toward them. Tay was running at me.

What's up?

"Bug is having a bad seizure."

I hurried as much as I could with a 20+ pound wiggling Ava strapped to me and by the time I got there, all that was left was the description and a VERY out of it little man. He was not back and he was wet. Uh oh. But, relax, it was water. Whew.

Glenn told me it was a Tonic/Clonic. A bad one. Not sure of the time. Which meant he didn't want to think about it because he ALWAYS knows how long they are. Must have been bad. Bug came around, a little, about 10 minutes later. I climbed in the car, holding him while he tried to shake it off and sleep. It took him another 5 minutes to get to the point I could give him his medicine since it was time. He took it, not easily and drifted to sleep.

For 10 minutes. And then he was back, although tired. Well, no kidding, the lactic acid buildup from that much muscle strain has GOT to be epic. Still, he ate well, more than I did actually, and we left.

He made it the rest of the day with no more, but it shook me. These highs and lows are destructive. They take so much effort to level out, to find a happy medium. To accept that it happened and it sucked, but that there was nothing to be done and one must move forward.

Uh, huh. Like that's gonna happen.

But, I will try. Tomorrow. Always tomorrow, because today, as fun as it was...sucked.

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Welcome

>> Friday, August 3, 2012

I have a picture of Bug, feeding 'his baby', Taylor. It's one of the most precious things I have. He did that a lot. He loved to help her, he would dance for her and make her laugh, he would comfort her when she would cry (he would pat her head, every so gently), unless she cried too much (we won't talk about what he would do then), and he would just like to sit by her, very closely. I loved it, it was the best. He was on track to be a GREAT big brother. Sigh.

And then, at about 3 1/2 years old, he stopped. I didn't notice it, at first, and then, by the age of 4, I realized he wasn't Bug anymore.

Until tonight.

I was snacking, because real food didn't sound good, and he was watching me. A couple of times, he reached into the Doritos bag, oh yeah, Doritos, and would hand me a few. I took them and ate them. This made me happy. I said "Thank You" each time and he would mumble something.

And then, out of the blue, he reached into the bag and brought the chips to my mouth until I opened up and he shoved them in. Bug, fed me. HE FED ME! I almost cried. Well, OK, I cried a little.

Those, were the sweetest Doritos I have ever had. Ever. Hi Bug, I missed you, will you be staying long?

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And sadness sets in.

>> Wednesday, August 1, 2012


When Bug gets sick, his seizures do two things: they get worse and then get a little better. They get worse when he is getting sick, better when he has a fever and then, sometimes, they get worse again.

This pattern reinforces a possible immunological issue. When his immune system is on high alert it gets worse, when it is losing the battle it gets better and then when it goes back to high alert, his auto antibody keeps it at high alert and the seizures continue.

He had been having a great week and then he got sick. He is now cuddling after his second nasty Tonic/Clonic of the morning. He is quiet, he is twitchy and he is not smiling. Epilepsy has, once again, robbed me of my happy little mischief maker and left me with a vile hatred of this condition.

I can not begin to describe how this hurts. For him and for us. Just when we see a small ray of sunshine back from the depths of a deep, dark pit of regression, someone puts an umbrella over the sun and we are left in darkness once more.

His chubby little, simian lined, short curved little pinkies possessing hands, are touching me. On the leg, and on the arm I have around him, looking for comfort. I have kissed him no less than 10 times in the 20 minutes since the seizure. How many times have you kissed your child today? Well, go do it. Life turns on a dime.

- Posted using BlogPress from my iPad

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What a Nice Time

>> Monday, July 30, 2012

Seattle showed us a few seizures but they were...odd...for Bug. He had ONE Tonic...in 4 days. NOT bad. BUT, he had 3 Complex Partial events. In an hour. At the Red Robin. Odd.

Since then, and we returned last Tuesday, we have seen one minor one a day. NO Tonic/Clonics.

And then there is yesterday.

He has been sleeping well, taking naps, and smiling. He has been 'talking' with his mouth closed, like he used to do when he was 2. He has said: Mama, although not as clearly as he has in the past. It is the constant verbalizations that have been so wonderful. He is talking to himself, chirping, mumbling and seeking out people. He will sit next to someone, or stand in front of them and make them LOOK AT HIM. He will grab our faces and turn them to face his and then...he yammers something.

I haven't been this excited in years. YEARS.

But he has a runny nose. And that's gross. But, so what? Please let this continue. Please?

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301

>> Wednesday, July 11, 2012

So funny to me, that my 300th post was a poop post. How awesome is that? So goodbye celebrating 300 post and hello to 301.

He had two seizures today, one in the early morning and one before bedtime, right after his 8pm meds. Bummer. But he was very playful and energetic all day, so...cool anyway.

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K...gross

Taylors positive spin went like this:



At least we have 2 year old Bug back.



She was trying to stop me from crying....I was a little close but I have been through this so much before, I knew to shove the emotion aside and just get to cleaning up. If you have a sensitive nature, get squeamish or have an over active gag reflex, do yourself a favor: don't read further, it's oh, so not pretty.



Bug was sitting next to me, being cute, and then he started holding his breath followed by slight grunting. What I SHOULD have done is run him to the potty, and believe me, next time, he even blinks long I will, but I didn't. But no, I just thought: cool he's making noises. I will just change whatever he makes.



I wasn't fast enough. As soon as he got done, he, very slyly, moved his hand toward his diaper. In an instant, his hand was in his diaper and then immediately in his mouth. IN his mouth.



I know: gross.


I grabbed him and hollered to Tay to fetch me a few things...it's when she came over to help that she uttered that now familiar mantra. I just smiled, Ava cried and Taylor cringed, but helped me.



Bug received his second shower of the day and we took Tay to Karate.



When I get home, I am taking a bath. After I mow the lawn and get everyone fed. And...Bug is going to sit on the potty with no toys, until he drops something in the water or I can't stand anymore.



At least we have 2 year old Bug back.




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Speaking of Dravet

>> Tuesday, July 10, 2012

FOR IMMEDIATE RELEASE


DR. DRAVET TO VISIT SALT LAKE CITY: REACHING OUT TO THOSE AFFECTED BY EPILEPSY

Salt Lake City, UT June 21, 2012 – At the invitation of the Epilepsy Association of Utah, world renowned French Epileptologist, Dr. Charlotte Dravet, will visit Salt Lake City on August 15-18, 2012. Dr. Dravet has agreed to meet patients affected by Dravet Syndrome, a rare form of Epilepsy named after her research efforts. Patients are invited to meet one on one with the doctor on Monday, August 13. Dr. Dravet will also be presenting an “Introduction to Dravet Syndrome” on August 14 from 9 – 11am for all medical professionals wanting to attend. Please RSVP to this event by visiting www.epilepsyut.org/dravet_registration.html.

“The opportunity presented to the people and medical community within Utah is unparalleled”, said Kris Hansen, President of The Epilepsy Association, “Never before has the Epilepsy Community in Utah had the occasion to meet someone of her caliber. We are honored that she agreed to spend so much time here. It’s a once in a lifetime chance”.

Schedule of Meetings/Events

Monday, August 13:
9:00am – 4:00pm     Patient Visits at University of Utah


Tuesday, August 14:
9:00am -11:00am Introduction to Dravet Syndrome
Dr. Dravet presenting along with doctors from UofU and Primary Children’s

12:00pm Lunch – By Invitation Only
2:00pm University of Utah Research Lab Tour
7:00pm Dinner with Dr. Dravet - A minimum donation of $75.00 a plate is suggested

Wednesday, August 15:
10:00am Grand Rounds at University of Utah

If you would like to participate in any of these events or have any questions, please contact:

Jenn Whiting
jenn@epilepsyut.org
or
Kris Hansen
kris@epilepsyut.org

(801) 566-5949

ABOUT DR. DRAVET
Dr. Charlotte Dravet was mentored by Dr. Henri Gastaut (Lennox-Gestaut Syndrome) at the Centre St. Paul in Marseilles. Her interests were focused towards the explanationof syndromes in childhood Epilepsy, the psychological consequences of Epilepsy, the progressive Myoclonus Epilepsies and their genetics, the congenital malformations of the offspring of Epileptic women and related studies. Her main contribution was in Myoclonia Epilepsy; with emphasis on benign and severe Myoclonic Epilepsies in infancy. Dravet Syndrome, is now recognized as one of the most malignant syndromes at this age and is widely studied by other authors and clinicians as well as geneticists.

According to Davet.org, “Dr. Charlotte Dravet first described Dravet syndrome in 1978 as Severe Myoclonic Epilepsy of Infancy (SMEI). The first seizures usually happen before one year of age, with no known cause other than fever or illness. Seizures progress to be frequent and do not respond well to treatment. They also tend to be prolonged, lasting more than 5 minutes. Other types of seizures, which are common in Dravet Syndrome, appear in early childhood, including myoclonic seizures, atypical absence, complex partial seizures and nocturnal seizures. Estimates of the prevalence of this rare disorder range from 1:20,000 to 1:40,000 births.”

Dr. Charlotte Dravet has been President of the French League Against Epilepsy and a member of the Commission on Classification of Epilepsies of the ILAE. She has participated in numerous congresses, lectures and is the author of a number of published works. Now retired, she continues to work in France and Italy to improve the care of people with Epilepsy.

ABOUT THE EPILEPSY ASSOCIATION OF UTAH
Founded in 1973, The Epilepsy Association of Utah is a 501(c)(3) charity dedicated to enhancing the quality of life for all individuals living with Epilepsy and seizure disorders. 1 in 26 people will develop Epilepsy at some time in their lives leading to over 150,000 people in Utah alone. Epilepsy is the 4th most common neurological disorder in the US after migraine, stroke and Alzheimer’s. The Epilepsy Association of Utah offers a public education program, statewide support groups, personal and professional advocacy, college scholarships, art exhibits, educational conferences, summer camp, and more. Visit http://www.epilepsyut.org for additional information.

Press Contact: Lindsey Palmer
Email: lindsey@epilepsyut.org
Website: www.epilepsyut.org
www.dravet.org

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Never fails

When I say: Things are going great! They turn into an ER trip. NEVER FAILS.

The upside is he only had one seizure. The downside is that one seizure was too close to the fireplace. We have the fireplace padded, as much as I could pad it, but when he has his Tonic seizures, his arms go straight out and then he rolls onto his backside. It was this action that made his head flop under the edge of the padding and strike the rock. It was a glancing blow but even glancing blows on the head bleed a lot. And it did. Glenn got to him before it got everywhere and he came out of it almost immediately. Which is good and bad. Good because it was NOT a bad seizure, bad because he was fighting us putting pressure on the wound and then escalating the battle slightly when we tried to look at it. Glenn and I both knew, as soon as we saw him hit, that it was a staple run.

We got to the ER and, start to finish, it took them 35 minutes. One staple. One. Easy peasy. Kinda. And I met Georgia, her boy has Dravet Syndrome and he had a lot of stitches tonight. Seizures suck. Bad. They Suck Bad. Ly. They suck badly. Yeah, that's it.

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What's the difference?

I can't help but wonder why, some days, he has so many seizures and others...nada. I understand that it may all be an imbalance. It might all be that when his immune system is taxed he seizes more, or that his Central Nervous System is so sensitive that ANY change can cause him to seize. Whatever the real reason, I am grateful for today.

Today, we have NOT seen a seizure. I may jinx it with that but still...so late in the day and NO events. Kinda cool. Hoping for a peaceful evening.

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Costco brings out...the worst?

>> Monday, July 9, 2012

We ran to Costco to get some things that are better purchased at Costco when there are 5 in the family, and no sooner were we in the door when Bug went Tonic. It was an intense one. He threw his toy, didn't mean to, mind you, he couldn't control himself. It flew and landed with a resounding clank! It got attention. One woman stared and continued to stare for a few seconds, when I said, out loud:

He always seem to have a seizure at Costco.

She may, or may not, have heard me and really I don't care if she did. I wanted to say something else, but I held my tongue. HELD IT. No smart comment just a simple one. And a true one. He does. He does seem to have a seizure every time we are there.

It made me recall when I was pregnant with him. Anytime I went into Costco I would get sick. I would be really dizzy and feel like I was going to fall down. I could not get my bearings about me. Why would that be? I haven't done it since. Incidental, maybe, but hell of a coincidence.

It lasted about a minute and took him a good 3 minutes to fully come out of it. After which, he was playing and smiling a little but still just a little off. He was very sweet with Ava. She wanted his toy and he let her have it a few times. Luckily she has the attention span of a pea and he got it back fairly quickly.

I gave him a full tablet of Clonazepam with his regular meds. We HAVE to stop these damn things. Have to.

Oh, and aside from the rude staring, later, we were eating hot dogs and salad...cuz why not? and Ava dropped her toy (for about the 100th time). It rolled over by the trash can where a man was standing. He looked down at it, and then looked at me trying to move Bug to go get the thing and he stepped over it and walked away. His Momma done taught him wrong, she did. All I could think of was WWJD? I can't help it. We live in Utah County, the epicenter of 'what looks good, must be good' and I can't help but to pass my own unrighteous judgments now and again. So I thought: And THIS is why it's more important to be a kind and helpful person than to just make sure you attend Church regularly. Church attendance alone does NOT pay the price of admission when you step over someone that needs help. As small as it may seem, these are the things that add to the tally. And what is Church for but to learn how to be good to one another? He's minus one tonight.

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A run and then the crash

For 3 days Bug had ONE small seizure a day. Whoopee! And then...Sunday hit.

All I can say about yesterday: God REALLY does not want Bug to go to church.

We awoke to him falling down the stairs. Glenn jumped out of bed and found him sitting calmly on the landing. When he brought him to our room, his lips were blue. Yah, sure sign of T/C. How did we miss this? His camera is not recording so I couldn't go back and look but still...didn't need it.

He fell back asleep next to us and then...another milder seizure. I gave him his meds a little early and he slept a while longer.

He had another one later in the day so 3 total, that we saw.

We need to get these damn things under better control, he is not making noises again AND he is manically spinning off and on. SO, I either wait until October, especially since the Leucovorin has only been high enough for 2 weeks and on it for 6 weeks when it can take 4 months to build up enough to make a difference, OR...I sacrifice chickens.

On a side note: Taylor does not carry the Folate Receptor Autoantibody. We had her tested to...well...be sure and to make sure that she is not having any tangible issues. Just little jealous ones.

I am insanely pleased that she is negative. Insanely. Now...to wait it out with Ava. Sigh.

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Is there an echo in here?

>> Thursday, July 5, 2012

The words: This may not help his seizures, have been resonating in my brain. Over and over, with each seizure I see a little less hope slip away and those words keep repeating themselves.

And then, he puts himself to bed.

Again, not a big deal for some 9 year olds, also a big deal for some 9 year olds, with or without cognitive problems. But a super, ultra, big deal at our house.

He has been averaging 3 seizures a day of varying intensity and type. Some are quick, and others suck in a major way. Take those seizures out of the equation, and he is doing well. Minus the food playing and toy dropping. He is manipulating his environment, going down the stairs using every other foot (not always but 50% of the time maybe), he is watching Sponge Bob and he is running. Running. And not just when he wants to get away. He runs to chase people, he runs to get to Mom and/or Dad, and he smiles.

He smiles from the soles of his feet, his toes feel it, and his eyes shine with it. It feels good, for that fleeting moment. It feels really good.

Last night, we let him stay up as late as he wanted. He made to about 11:45 when he disappeared. I went to check on the baby and, what I thought was a sleeping Bug in our bed. He wasn't there. I looked in the closet (he likes the solitude and it's a pretty big closet): no Bug. So I went back into our bedroom and looked at the monitor. There he was. In his bed. Asleep.

A shiver of excitement passed down my spine and I went into the kitchen to show Glenn. We both sat amazed at what we saw. And we smiled. A smile from the soles of our feet and our toes were very happy. Good job Bug, now stop throwing food on the couch.

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Gah!

>> Wednesday, June 27, 2012

It's always tough to witness a seizure. So many things go through your brain, not the least of which is: Am I watching him/her die? Odds are, no, but still...you think it. Can't help it, they are frightening as hell.

Bugster had two T/C this morning. Both sucked. The one at 5am was worse. Luckily, he went right back to sleep like nothing had happened, and for him, nothing had. For his brain, well, it may just be continuing to entrench itself in the pattern of seizing. And THAT is NOT acceptable.

With the Clonazepam back on the morning routine, he snapped out of it and hasn't had one since 8:15am. Hooray. This morning he started the 25mg in the AM and 25mg in PM of the Leucovorin. Now, I KNOW that we aren't supposed to see a difference yet, but MAN is he more verbal and watching SpongeBob a lot (don't pooh pooh Da Sponge to me, EVER, when he watches THAT, I KNOW he is doing well, Da Sponge is a great baseline). He is chirping while spinning wheels. It's totally cool.

Now...on to finding him a great Immunologist.

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Never fails

>> Tuesday, June 26, 2012

I always jinx it. Always.

When we went to pick up the monkey boy from school for his Doctor appt, both Glenn and I commented that we thought he looked like he was going to seize. These are the times we wish we were wrong. But we weren't.

Starting at about 1:30 he seized. By 3:30:pm he had 4 under his belt. 4. In 2 hours. This is how you piss me off.

I have been weening the Clonazapam, but that is out the window now. Gave him half a tab 40 minutes ago and haven't seen one since. He is still being pretty vocal, so that's good. And watching TV. Also good.

Got the thumbs up for increasing the Leucovorin. Just have to pick it up. Hooray. Way hooray.

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A good day

>> Monday, June 25, 2012

The days have been getting better for Bug. He has more energy (uh oh), he is making more sounds (mostly the humming he used to do when he was a toddler) and his seizures are much shorter or non existent. When he does have one that is apparent, it's a doozy. Not happy about that but I'll take one big one every few days as opposed to lots of little ones.

Curiously, last night, he woke up crying about 3am. He was pretty upset and I began to get up to check on him. I saw Tay comforting him and he went back to sleep gently. I surmise he had a bad dream. A BAD DREAM. Cool. The child never slept longer than 2 hours without Melatonin, so he probably never, or very seldom, dreamed. We can safely say this, because his EEG, while sleeping, showed almost NO REM (Rapid Eye Movement) state. Safe to say: Not dreaming. He did have about a 10 second T/C around 7:00am, but that was the largest one. He had one instant myoclonic in the car about 1:30pm. So, he is making progress on that front as well.

We go to see Dr. Spencer in the AM. Gotta talk about treatment options, including IVIg and what not. I literally, can not wrap my head around the possible treatments that might help, it's not too much, it's just...what if it helps? I suppose, we will just have to wait and see.

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Hello 2 year old Bug!

>> Sunday, June 24, 2012

Bug did something a little while ago that I haven't seen in, oh, 7 years. I tried to film it but he stopped doing it before I started recording.

He was sitting on the couch and began shaking his head back and forth. It mimics the 'no' action but with more forceful and purposeful movements. He used to do it a lot and then stop to smile, only to start back up again. We saw this last when he was 2.

Now, THAT, is not wishful thinking.

I am NOT as excited about the running from room to room. Although...that too, is pretty exciting, and not as destructive as it was back then. He is making a lot of noises as well. Doing the Bug 'hum' that everyone who knew him then was familiar with. Each day, each week, gets more interesting. Still seeing those stupid seizures though. But...we are working on it.

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All sorts of tears.

Yesterday saw only a few small issues, some quick myoclonic stuff, nothing major. But this morning we woke up to Taylor screaming SEIZURE!

When we got up there, he was in full T/C. Another bad one. We waited it out and I carried him downstairs. He received his medication, upped by one Leucovorin, taking the total to 15mg 3x a day. He slept for 4 hours.

Was it the seizure that made him tired? Maybe. And maybe it was the up in the Leucovorin. The last few times we have increased his medication, he has slept. Could be a good thing. Let's hope it's a good thing.

Another good thing: He has been crying when he gets hurt. Like most kids do. Crying. Not whining, not holding his hurt body part, but real tears. It's kinda cool. Although he is HURT when he does so, boo for being hurt, hooray for being bothered by it.

He cried more about hitting his head on the kitchen counter than he did when he had stitches in his eyelid. Maybe it's just me, but doesn't that say: Hi, I am more aware and THIS FREAKING HURTS. ?

A not so good thing: Taylor is acting like she is having problems. She is twitching a fair amount, and stuttering when she talks. Jury is out if she is exaggerating or if there is something actually going on. We will talk to the Doctor about it on Tuesday. Sigh.

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The Research Continues

>> Tuesday, June 19, 2012

Wow. Just wow. This was published in 2007. I would think that with results such as these, EVERY Doctor with an Autism Diagnosis and ALL mainstream media outlets would have been screaming: TEST YOUR CHILD. I wonder why not?

This is Bug. He has all of these markers and conditions: His Serum Levels are normal, his 5-MTHF is low and he is positive for Folate Receptor Autoantibodies. Looks like the next year, will be very telling.

http://ultimateautismguide.com/2011/08/autism-research-folate-receptor-autoimmunity-lack-of-cerbral-folate/

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Thud.

That was the other shoe dropping.

I called Arkansas Children's Hospital to get an appointment with the good Dr. Frye. He doesn't have a schedule yet and they have no idea when they will have one. How's that work for ya? They took all of our information and will call when they get his schedule set up and start making appointments.

Shades of UCLA all over again. Don't call us...we'll call you. Maybe. And if you haven't heard from us in, oh let's say, 2 months, then feel free to give us a call back and we'll see where we are. At least Arkansas didn't even get our hopes up by saying THAT. They said: Talk to you whenever. Sorry. The term for my new emotional state: demoralized. Damn it.

Still, there are ways around this bureaucratic bull, and those ways are MD to MD. So, when Spencer gets back, and we get in to see him next week, we will see if he is inclined to call Frye himself and we can tailor Bug's medical plan over the phone, remotely, with no co pay. :)

So let's catch up on Bug this morning. He's at school! On the van! He made it. But not without amusement.

Monkey boy needed a quick shower. He hasn't been eating breakfast until about 11:30 so I didn't worry too much about trying to get him to eat, I medicated him and put him in the shower. He was grooving on it, and I liked seeing him smile. Then...he got a little less animated and looked like he was peeing. He wasn't. Then I heard: Plop. Well, at least he didn't soil the diaper.

Everything, and everyone, got cleaned off again and he got dressed. He walked, fairly calmly, out to the van and seemed pretty cool with going. He wasn't jumping for joy, but he was helping get into his seat, so that's a good thing. I told Shari to let them know they will probably see a seizure and he MAY start scrounging for food around 9:30 or 10:00, depending on if lowering the Dilantin a tad helps his appetite. It helped him walk. Last night, no toe walking. NO TOE WALKING. Cool. Oh, and no seizures. :)

Now, I just wait for him to come home and for Arkansas to call...or not.

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God Bless Alexander Graham Bell

>> Monday, June 18, 2012

Because of the Bugster's BAD days...I got on the phone. Well, on the Internet and THEN the phone.

First, I searched for Specialists in CFD and FRa and all those new TLA's (Three Letter Acronyms) we use in our house. Time and again I saw the same few names. The one that JUMPED at me was Dr. Stephen Frye. So I set out to find a contact email/phone/Ouija board for him.

I found a phone number and I called.

HE answered. The Doctor HIMSELF answered. Buggar me again! I stammered and then I picked myself up and talked about Bug. I told him what we have found that is new, and what is not so new. What we were trying to understand and then: Can we come see you?

He validated our research and thought we could come see him or we could try another Doc at UofU. I called Glenn after I hung up the phone, IMMEDIATELY called Glenn after I hung up the phone, and he agreed: Let's got to Little Rock!

The appointment desk is closed at the moment so a very nice lady, Sharon, with a beautiful accent gave me the correct numbers and tomorrow..I call.

So, let's detail his suggestions. Suggestions, he was careful to say he was not advocating OVER THE PHONE. It really was everything we had been reading about and then some.

1. Take him to 25mg of Leucovorin 2 times a day (he is doing 10mg 3 times a day now). 30mg is too low. It needs to flood the blood stream to get through the blood/brain barrier and he doubts that enough, if any if getting through. Although SOME has to..he is just too happy.

2. Discontinue the Dilantin and try Keppra IN THE PROPER DOSAGE. He said that 5ml twice a day was too low. (jury is out on this one since we tried it before with no luck...although...if the dosage was too low...)

3. Talk to an Immunologist and see if he needs IVIg to suppress his obviously overactive immune system.

And that's where we start. We can make some of the changes immediately and the others will have to wait for Dr. Spencer. Who, I will be giving Frye's phone number to. He will get a big kick out of it. I think.

We have only seen two seizures so far today...but he is VERY jittery and having a tough time walking. Could be the sickness. He has been tugging his ear as well. Hello, Otoscope...where are you?

Again, we wait. Ugh. But...HOORAY! What a cool day!

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Not sure what's worse...

As if yesterday wasn't bad enough with the, more than a handle seizures, but today...he is asleep and will not wake up. He has done this before. He sleeps this much when he is:

1. Sick.

2. Modifying seizure types

3. In Status

He IS sick. I gave him his meds this morning and saw his nose had been bleeding and is very runny. Hoping that is all. But, really, what are the odds?

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Fluck.

>> Sunday, June 17, 2012

7 seizures, including 2 full T/C's and some mild paralysis after the last one. He better be sick. All I can say. He sure as hell better be sick.

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The post we knew was positive.

>> Friday, June 15, 2012

Received word a few hours back....Bug has Folate Receptor Antibodies.

What does that mean? It means that he does not bind folate properly. I will try, with Glenn's assistance, to detail this later but for now...we know.

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Weeee....it's a Roller Coaster

The constant up and down of life with Epilepsy is tough enough but then add a new medication with a lot of promise and each seizure is a stunning rush of emotion.

Bug has been doing fairly well, his eye contact is still good and improving, he isn't following direction as much BUT he has been sick AND he is stubborn. But is it the sickness that is messing with our 'one a day run' of seizures? Two days in a row, only one event each day until this morning....

He has been sleeping in, mostly because he is staying up until 11. I know...bad parenting on an epic scale but we are trying to limit the use of Melatonin and he puts himself to sleep between 11 and 11:30. If we give him Melatonin at 9, it's a battle for almost an hour. And why put him, and us, through that? He KNOWS he has to stay in bed, he just is so excited about the world around him. We know this is the case because his variety of toys has increased. His spinning has decreased. Let me say that once again: HIS SPINNING HAS DECREASED.

Bug is a spinning machine. He can spin anything on his finger. Even a burrito. Thank heavens I have witnesses to THAT one or no one would believe me. He got two full rotations of a burrito before it started to fall apart. Classic. He still likes to SEE things spin but he hasn't been picking up things and spinning them on his finger. Holy shite.

So, today he slept in past his medication schedule. Damn. So at 9am he had his meds in him but not soon enough (he got them at 8:30) and he seized. Then at about 9:20 he had another. The first was the longest at about 20 seconds, fully Tonic and somewhat aware. He blinked in the middle of it. Locked up, blinked. Broke my heart. The next one was a very quick tonic. Less than 5 seconds. Still hate those, but a far cry from how my little man started this journey.

After two days of watching him play, and not spin as much, watching him smile randomly and investigate more things, watching him look at Ava and GRIN, two seizures, really blows. Gale force. It's next to impossible to maintain composure and grace at these times. Thank heavens I've never had neither of those traits.

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Ugh...sickness still sucks.

>> Sunday, June 10, 2012

The newest Maughan has been sick for a few days. 48 hours of fever and grumpiness with some vomit and more than an average amount of poopy pants. Still have no clue what it really was but she is a bunch better today.

But....

She is a sweetheart who gives kisses already and shared whatever shite she had with her big brother. And because of it...no less than 5 seizures today. How much does that blow? My heart is broken. And he sleeps peacefully at the moment. No real fever but gave him ibuprofen because he felt a little warm. Luckily he ate a decent lunch because breakfast and dinner did not appeal to my little monkey man. Hopefully, it will only last as long as baby sister's did...because more than two days of this and my heart might explode.

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Update

>> Friday, June 8, 2012

Still having one to two seizures a day. Less intense, and usually right before his medication. This tells us he is still burning through his meds too fast.

He is now taking 7.5 Leucovorin 3 times a day. A far cry from the maximum dose but Dr. thinks he is middle of the road. ? But that didn't stop me...

It didn't stop me from talking to Spencer. And the good Doctor agreed that he could be upped a little sooner than 3 weeks. So...tomorrow he will get 10mg 3 times a day.

He is more on today, more aware, more interactive and less seizural. It's kinda awesome. Still...not believing that anything can bring him back and keep him back. It's all too 'Flowers For Algernon' for me. I know I should equate it more to insulin for a Diabetic but I still can not. Not yet. Even though he is doing better and he makes fantastic eye contact, there is too much a history of medicinal failure to fight. So, realistically, he is making intentional eye contact, even seeking it out, and smiling a lot more. He is toe walking more, although I caught him walking flat footed a few minutes ago and is doing it even now, he pathological need to spin things is still strong. Maybe even more intense. I will take more video. It will be good to compare.

On to tomorrow, a dose increase and the addition of B Vitamins. Wish us luck.

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A part of Bug resides in New York

>> Wednesday, June 6, 2012


Yesterday was a busy day. Running, running, eating, running and telling Bugs story no less than three times.

Once, when I got the pre paid envelope to ship his serum in.
Twice, when the phlebotomist at AMFO HO did his courtesy draw of blood.
And the third, when I picked it up from the lab after its journey through the centrifuge.

I sealed it in the envelope, along with the 125.00 check and handed it over in the FED Ex package that said: do not use this envelop to ship blood, liquids or chemicals. Whatever.

So, as of 10:23 this morning (guaranteed delivery by 10:30 after all) his serum is in the lab in Buffalo. Hoorah.

And..we wait.

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For once: The right choice

>> Tuesday, June 5, 2012

When we found out about Bug's low levels of 5-MTHF, we did the research and then made an appointment with his primary care physician.

When we handed Dr. Spencer the 2, only 2, printouts we had brought with us, he READ THEM and then he asked if we wanted the blood test. Just to be sure?!

Yes please. Although I believe I said...well hell ya.

So, Spencer arranged it.

With the ONLY lab IN THE WORLD that does it. It took him two hours. WITH THE ONLY LAB IN THE WORLD. How cool is he?

It didn't take him long at all...because he is smart...and because he cares...and because he is a GREAT Doctor. And I am NOT over exaggerating this time. He literally looked up the study author(s), found the one that he was sure could do the test or point us in the right direction, and he CALLED HIM. Novel idea huh? Dr.Edward Quadros answered his own phone and walked Spencer through what needed to happen. ANSWERED his OWN phone...at 5:30 at night. I like him. Haven't met him, but I like him.

Spencer sent an email and less than 10 minutes later, Dr. Quadros sent back the instructions on collecting the blood and sending the sample to his lab. A 100$ donation is requested. Ok. We can do that.

And today, I am off to pick up the pre-paid FedEx envelope, take it over the AMFO HO lab and then send it directly to Dr. Quadros for evaluation. Gotta say, this is one of the simplest things ever that may have the BIGGEST impact on my little family. Especially the Bug.

Quadros said that since the publication of the research paper, they have had INTERNATIONAL response and requests for testing. He stated that they were almost overwhelmed. And that made me smile. I have such little respect left for the medical community that it makes me extremely happy to hear about so many proactive Doctors and Medical Centers.

I will stress again: ANYONE with an Autism Spectrum Disorder, with or without seizures, should get this test. It's less invasive than the lumbar puncture and has about a 50% chance of being positive for FRa. If not, talk to your Doctor about trying Leucovorin for about a year, just to see if it helps. It can't hurt. It really can't. And the best that can happen: You can get your child, your self, or someone you love the opportunity to improve their situation. And that can't be bad can it?

And about Bug: He is doing well. Really well. We took it upon ourselves to up his med by 5mg a day and he has had 2 seizures in 48 hours, and one had Tay as a witness only so...might go with just one. It was less than 5 seconds and only his arms were involved. He came out of it immediately and has been very happy all morning. The eye contact continues and he is animated and interested in other things, not the standard play toys. So...we will see what comes next. Will the shoe drop? or will he put it on his foot? Only time, and a med increase, can tell.

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Disappointment

>> Thursday, May 31, 2012

He was a little off today. I think it's because I woke him up early for the last day of school. At least I HOPE it was because I woke him up early.

Regardless, he ended up with 3 minor seizures. :( I have sent an email to his Doctor asking to up his medication. He is just so happy and makes such GREAT eye contact when his meds are at peak. We have to get them up to a therapeutic level soon. Fingers crossed he reads his email tomorrow.

What are the odds?

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Scratch that

Make that 2. 2 seizures in 48 hours. Technically 2 in 16 hours. School called. He was in the bathroom and had a small seizure, but in doing so, he clipped his head on the sink. He is OK, but they have ice on it so keep the swelling down. He is the ONLY child in class today, he must be happy as a clam to have EVERYONE to himself for the next hour. That is the ONLY seizure I am allowing today. NO MAS.

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Tempering anger with direction

Sometimes, it's best to let a sleeping dog lie, and then other times...wake that sucker up and let's get on the road.

We woke it up and now I have the price to pay.

It's not about Bug this time, it's about test results. Results that were NOT delivered in August when they were identified by the lab as needing treatment. Test results that *we* demanded and were told were completely normal. Test results that, until yesterday, we were just grateful to have. Today, I am trying to be grateful that we just have them and we have a direction that may, or may not, help my little man. BUT knowing that the lab recommended treatment in AUGUST...yes, August, when he started the Keto Diet, August when he missed so much school because of the side effects of the diet that I almost got him in home classes. Yes...August...we could be six months into and, possibly, less than the several HUNDRED seizures we have seen in that time.

Should I have gotten the print out that was missing, MISSING, from the stack of medical records they gave me in July? BTW..the results were actually done in MAY and faxed in August. I can't even wrap my head around an entire YEAR of treatment that we missed and literally, 3 instances of Status, one Keto failure and the on again off again sounds he has been making. No, I HAVE to stay focused on moving forward.

Still...lesson learned. Test results will be COMPLETE and IN MY HAND within 4 weeks of the draw (blood, LP or whatever method). They may have been too busy, or too focused on him being pretty and just having 'bad brain', but Daddy and I knew there was SOMETHING to find and Daddy and I are NOT too busy to follow through. So, I will be a living nightmare for someone NOT doing their job from this point on. I WILL NOT look back and wonder, I will NOT subject him to more than he needs to be bothered about. Screaming over and direction obtained.

Damn it.

In the last 48 hours we have seen 1, let's count them on 1 finger, seizure. 1. He may be having more activity than that but what we are seeing, and can CONFIRM, is 1. Hooray, we're number 1.

For now.

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So close

>> Wednesday, May 30, 2012

He had a good run. 36 hours with no seizure and then...a 40 second tonic complete with a good bonk on the noggin. Damn. Back to 0. Still, he is more expressive and happy. Easier to redirect and wanted to play with Taylor. He hasn't done that in over a year. What I wouldn't give to see him chase her around the kitchen island again. Sigh. Maybe some day. Maybe.

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About Folate Deficiency in Da Bug

>> Tuesday, May 29, 2012

I won't say the last few days have been amazing, but I will say they have been remarkable.

Bug has been smiling more, making great eye contact, and giving open mouthed, very wet, kisses. He is following very basic instructions and it's kind of exciting. He is, however, still seizing. Not as much or as often, and it's not a surprise, nor are we expecting to see a big difference. His new medication may never help with the seizures, it is expected to help with his cognitive development, or lack thereof.

So let me detail what is happening with him, and what we have found that we are investigating.

Bug is unable to process folate properly. But even bigger than that, he is not able to get enough folate into his brain. He has a severe brain folate deficiency.

In April of last year, I was a complete biatch and demanded a Lumbar Puncture (spinal tap). I didn't have to be THAT persuasive, we had an excellent Doctor that time in the Hospital and he pretty much said: We haven't done that? Well okey dokey then. We were told it was normal and we went back home to 3 more hospital visits in the following 5 months.

Sometime between then and last week, the good Dr. Filloux saw the 5-methyltetrahydrofolate deficiency in that LP result and we headed in a new direction. It was a simple conversation which was followed by hours of hard core Google searching and A LOT of 6 syllable words.

What we have found since then, makes me want to scream at EVERY parent with an Autistic Child: GET THIS TEST DONE!

Bug's folate issues have only recently been identified by the medical community. And I mean recent. We put pencil to paper and realized that we actually only missed 5 months of potential treatment. We also realized that he, and I, need to be tested for FRa (Folate Receptor Autoantibodies). Better than half of people with CFD also test positive for FRa. Making a lumbar poke almost unnecessary. Classic CFD, Cerebral Folate Deficiency, is characterized by a low level of 5-MTHF and low Cerebral Spinal Fluid and now...a positive FRa blood test among other things (Bug has a normal level of Cerebral Spinal Fluid but an incredibly low 5-MTHF. Hence, our hope that any damage that might have occurred is relatively minor). We have also found that there may be some genetic markers for it, specifically, the Folate Receptor 1 Gene. The instance is fairly low (10 in 72 children) but it is still worth investigating for use as a positive diagnosis. Because NOT having a diagnosis sucks more than a Dyson.

The curious thing about CFD is it is progressive. It could explain some of the instances, like Bug, of one day being fine and the next, sliding deeper into themselves. They are simply losing the ability to process because of low folate and impeded neural transmission.

NOW the exciting part for us and SOO many friends: In one recent study, CFD has been found to be quite prevalent (almost 60%) in children on the Autism Spectrum! And the treatment for CFD is folinic acid. Now, before you run off and get folic acid, it needs to be specific. Increasing folic acid levels will not harm anyone and it will provide some minor help but it needs to be a prescription FOLINIC ACID. There are some OTC that say they promote 5-MTHF but these are high levels of Folic Acid and B Vitamins and not FOLINIC Acid. Folinic Acid crosses the blood brain barrier. FOLIC acid, in someone who has absorption issues will NOT.

So, I sent and email to his Geneticist at PCMC and we are seeing his Ped in the afternoon tomorrow. Excited...just does not describe it.



For those of you who like the 6 syllable words:

Cerebral folate receptor autoantibodies in autism spectrum disorder
http://www.nature.com/mp/journal/vaop/ncurrent/full/mp2011175a.html

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
http://brain.oxfordjournals.org/content/early/2012/05/13/brain.aws122.abstract

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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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