Sunday, January 17, 2010

Normal







* MY doctor sent my results but thought it was a good thing that the result was normal :)








So yesterday I received my Tuberous Sclerosis genetic test results...Normal...This, you would think would be a good thing...Unfortunately this means we are now a 50/50 on Maddie having TS because we are only waiting on Rob's test results. Remember, if his are normal like mine is, Maddie IS likely to have Tuberous Sclerosis. This is because it would not be considered a polymorphism but a spontaneous mutation. So...I am still not getting nervous as I am almost certain it must be from Rob as it would be so incredibly rare if it were a new mutation. That is how the geneticist explained it at least.


So normal is not a good thing in this case. We want one of us to have the same abnormality as Maddie's as this would mean it is benign...because neither Rob or I have any symptoms. I hope this makes sense.
We should receive Rob's results early February...I hope.
Other than all that Maddie's eyes are great again today!
Paige is going to be in Rob's cousin's wedding as a flower girl and we went to try on dresses today. She was so cute! I will update her pictures of her looking in the mirror. She kept saying, "This dwess is so cute!" and she would twirl around like a little princess. Paige goes back to the plastic surgeon tomorrow to check her scar. I think it is healing great so far.

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