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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 :)


2 comments:

Diana Bleu said...

did you watch the movie extraordinary measures? .. i know that Ethan doesn't have that disease but reading, sounds like a simalar basis?? ( just my thought) when trying to find things "out side of the box" .. are you guys agaisnt stem cell research? i think about him everyday. I pray all the time for a cure. (hugs)

Chuck said...

I found your post because of the key word search I have my computer do on a daily basis. I am familiar with myotonic dystrophy and suggest www.myotonic.com. Not knowing all your symptoms but know that biopsy and EMGs are painful and inconclusive testing DNA is better alternative.