When we were at UCLA, the geneticist pulled Brad aside to talk to him bluntly about what Mia's future held. He said, "we can't be pessimistic, and we can't be optimistic either". He also spoke about the things he saw that were symptoms of a genetic disease. He was the most vocal about her ears. He said that her ears were set low on her head and had a tilt to them. He said her ears could be a clue that she has CHARGE syndrome, or down syndrome, or something else that doesn't have a name yet. You know her first two genetic tests, the FISH test, and the CGH Array, both came back normal. No Genes missing, no material missing.
Today, Brad's mom brought over some genetic history....
I think we have a match! We are greatly relieved that her ears will probably grow up to look normal. (At least as normal as Dad's ears.) AND this leads us to believe that doctor was jumping to conclusions about her ears and having a genetic disease. Thank you God!!
3 comments:
i jsut got this in my google alerts thing i have charge syndrome im 22 her face acutlay looked like charge but then u did say downs both are very simila my cous has downs and there are times when people will thinmk i have that not charge i have the tummy problems and much other stuff if you want to go view my blog and other charge firends i have just click my name and go in there and scroll down there is a yahoo charge groups you can join to any questions jsut commebt to me in my blog its the ellen one
if you see them again id tell them bout the bone thing coz if thats what i think it is then that means its charge infact y dotn you join the yahoo charge group many people would of got this or a few would of and if they are like me and see the archive they will know what makes me tell you its charge coz as i say there are two types of the artries in the nose cant spell the thing properly but theres the bony and the fleshy one and i do believe downs dont get this but the genetics lady in the list would know google charge yahoo groups and you will get it the pics the one with the sign for it i tell u this as a few results come up lol
Leave it to Grandma to save the day!!!
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