Tuesday, April 30, 2013

Genetic appointment

Yesterday the baby had her genetic appointment and we got the results of her microassay that was taken right after she was born.  She had a 50% of getting either of our bad chromosomes, 25% of getting both, and 25% of getting neither.  Unfortunately she fell into the 25% chance of inheriting both. They still have my duplication as listed as unknown significance (probably because I - and now dd2 - may be the only people with it) so the doctor doesn't think it is important, but dh's chromosome 6 deletion is now listed as pathological known to cause development delay and other health problems.  Of course neither dh nor his mother like to believe this despite me showing them the literature.  She thinks since there isn't a nice sounding "syndrome" name like our nephew has then it means nothing.  That upsets me because it basically makes like all the therapy I have been getting for dd1 and dd2 medical problems seem like nothing.  I understand that she doesn't want to admit that there is a problem from her side of the family, but the fact is there is and denying that the deletion doesn't cause problems doesn't help anything.  I mean the baby isn't even 10 weeks old yet and has already went through one surgery with likely many more to follow.  She is also already developmentally delayed, though I don't know if it is related to the heart failure or the deletion.  Anyways I am not taking any chances and have left a message with EI to make an appointment to get her evaluated.  The genetisit also wants her to have a renal u/s since enlarged kidneys is common with the deletion.  DD1 had that problem, though it was picked up at the anatomy scan.  I think back to the anatomy scan I had with this pregnancy and all I recall is the doctor's words that she is perfect, there is nothing wrong.  I can't believe that just 6 months later my baby was in CHF and undergoing cardiac surgery.

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