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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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.

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