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Tuesday, August 24, 2010

Still no answers...

Today we met with Dr. Teasley to review the results from Atlanta.  Here is the overview:

Ethan's current score for diagnosing him with Mitochondria Disease Clinically is a 4.  That puts him in the "possible" category.  Probable is 5-7 and Definite is 8-12.

His Biochemical Criteria score is 1.  Anything between 1-7 is considered normal.

His Genetic Criteria is currently still be tested.  They are currently studying the banked muscle for mtDNA or nuclear DNA mutations.  That won't be back for another month or so.

So basically, his scores right now are  low and that is why Dr. Shoffner put in his conclusion that he was leaning towards him not having Mitochondrial Disease.  If some reason the DNA Mutations come back with some crazy results than that would change everything.

The good news is we know he definitely doesn't have Prader Willi, Angelman Syndrome, Leigh's Disease, Rett Syndrome, fatty oxidation disorders, glyco storage disease or Pompe Disease.  Thank God.

Dr. Teasley said she has spoken with Dr. Bodurtha (our Genetics Doc) and they feel that right now Teasley can not do anything else to help him and that Bodurtha will take over.  We see her in the middle of September.  Dr. Teasley did say that Dr. Bodurtha will talk to us about  some testing that can be done in Bethesda at the National Institute of Health's Rare Disease Center.

So we are still looking for answers....

Thursday, August 12, 2010

The results are back from Atlanta...

And so I got the email from Dr. Shoffner's office in Atlanta, you know the secure one labeled Hamilton Biopsy Reports.  I fumbled about 5 times trying to remember my password until I finally figured it out and viola 63 pages of medical reports came spilling out. 

I quickly scanned for an overview or a conclusion and finally came upon it....

"The data supporting a mitochondrial disease in NOT very convincing, Patient does have a small defect in the Complex I. "


Hmmmm.....so I'm thinking to myself that it's good news that my kid doesn't have defects in the other complexes and only a small defect in Complex I but what does that mean exactly?  Guess we will find out next week when we meet with the Neurologists, Dr. Taylor and Dr. Teasley. 


Although further down the report it does indicate Shoffner wants a follow up in Atlanta with us and recommends another live muscle biopsy because even though he has some of Ethan's thigh muscle frozen for further testing he wants another live one to test for some other Mito stuff.  Um...NO....and thats all I'm gonna say about that for now...He does want him to have some testing for Muscular Dystrophy, specifically myotonic dystrophy" http://www.mdausa.org/publications/fa-mmd-qa.html.  Any body heard of it?

So our journey continues for a "DIAGNOSIS" or does it?  Chris and I are divided.  Its not that I don't want a pretty diagnosis to wrap up in a box with a great big ribbon but come on.  We have been dealing with the what ifs since I was pregnant with Sweet Ethan.  I think if he's healthy and he is progressing (even if it seems sometimes at a snails pace) than just leave well enough alone and lets enjoy him.  Chris seems to think we need to go until we get an answer.  I don't know whats right, maybe Dr. Teasley can give us some advice.  I'm just tired of putting our life on hold, I want to enjoy him and not think everytime we have a holiday that I better take a lot of pictures because it might be his last.  Ugh...

So onto better thoughts....he is doing great with his glasses!


And Gracie started cheerleading practice this week and I somehow let them talk me into being an Assistant Coach.  Actually, I am enjoying the time alone with just Gracie and being able to give her my attention, it makes her feel important.  Now if it just wasn't 100+ degrees.  Ahh, maybe I'll lose some pounds with all the sweating I'm doing :)