Rare Disease Day

>> Thursday, February 28, 2013

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

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

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

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

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

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

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

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

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The Great Take Away

>> Tuesday, February 5, 2013

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

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

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

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

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

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

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

We want to try dairy free and Leucovorin for awhile.

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

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

Bitter? You betcha!

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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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