Thursday, January 3, 2008

Never the same

Nothing is ever what I say it is, or will be, around here. Everything changes. As soon as I thought I had January all planned out then Emeric's VEEG was cancelled. Now our trip to Cleveland has been cancelled. The neurologist called this morning and got back the results from a urine test we did about a month ago. I completely forgot we'd even done the test! I don't even know all of what he was testing for but he said the urine gives us a probable diagnosis and is as close to actual concrete evidence of a specific diagnosis as we've had so far. He believes Emeric has something called a Creatine Transporter Defect. Not sure on a lot of it right now but basically it isn't that his body doesn't produce creatine, it's that it doesn't shuttle it to his brain and muscles. Creatine is essential for energy metabolism. This defect can cause developmental delays, specifically an expressive speech delay, Epilepsy, Autism, and mental retardation. There's a specific DNA mutation that has been found with this defect so they're going to do a blood test to see if Emeric has this mutation. If he does than it guarantees he has this defect and there's no reason to do the muscle biopsy because the mitochondrial dysfunction and the dysfunction of the neurotransmitters would be being caused by this.

They will try to treat him with Creatine but since this defect was only found SEVEN years ago there's not much in the way of prognosis. I think it's dependent on how well he responds to treatment. Since this is an X-linked defect and boys only have 1 X chromosome they are affected more severely than girls because girls have the extra X chromosome to compensate. If that makes sense!

This is not a 100% for sure diagnosis but the neurologist feels pretty certain this is what we're dealing with. I'm not sure where that leaves us with the mitochondrial dysfunction or the neurotransmitter dysfunction. I'm assuming we'll get more answers after having these test results. Emeric will have an MRS(sort of like an MRI) done that will measure the amount of Creatine in his brain and the neurologist is expecting that he will have very little to none in his brain. If this is the case that gives us this diagnosis of a Creatine Transporter Defect as well.

I'm wary because as soon as I start accepting an expected diagnosis it changes! He does still have the mitochondrial dysfunction but it doesn't look like he has mitochondrial DISEASE. I know that's probably confusing and really the dysfunction can cause all of the same issues as the disease so it's all mostly medical jargon to me!

Please keep him in your prayers. And me so I don't go crazy waiting and wondering what the heck is going on now!!


Kelley said...

Well Nicole, is this good news then? I can imagine how frustrating this all is for you. Do you think that things will get better when they treat the creatin?
Prayers are continually on their way for Emerick. Thanks for keeping us posted.
I'm so glad that you and Katie have blogs. At least I can keep up on your lives!

Nicole said...

Well, hard to say if it's better news. They will treat with Creatine but if there's a problem with the transporter than the Creatine won't make it's way to his brain anyway. If it could make it to his brain things could potentially get better but it honestly doesn't sound all that promising.

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