Genetics

Well we have known for awhile now that Morgan is deaf due to genetics and the connexin gene, but I have been really curious as to what connexin genes Ben and I really have that we passed on to her. So I decided to do some digging and get some testing done. I first asked St Christophers for a copy of Morgan's genetic test and went from there. I didn't really understand it so I call CHOP and asked the genetic counselor to help me understand it. Turns out that Morgan has one connexin 26 gene which is a mutation in a gene, and she has connexin 30 which is a deletion in a gene. So I figured oh she must have gotten one from me and one from Ben. The geneticist explained it to me that she actually could have just gotten one gene from either Ben or I and the other one just spontaneously happened. After hearing that I was even more anxious to get tested. Having one of the gene spontaneously happen would make the chances of having another deaf child decrease greatly. However that was not the case. We got our results back on Thur Sept 3. I have the connexin 26 mutation and Ben has the connexin 30 deletion. So we are back to square one with it being a 25% chance at having another deaf child.(a 1 in 4 chance) The geneticist also continued to tell me some of the options that we had before a baby was even born. One being that we could have an amino done or a CVS (Chorionic villus sampling) which is done at 10-13 weeks after conceiving naturally. They do a biopsy of the placenta and test that for those particular genes. Both of these were out of the questions because Ben and I would never not have a child just because they were deaf. However the other test they can do is called Preimplantion Genetics Diagnosis (PGD). This is used along with in-vetro and they test the cells of the eggs or embryos. Here is a link www.reproductivegenetics.com/pgd.html. We have done alot of thinking about this and have put religion and all other factors out of the picture except that fact that I would do anything to ensure that another child wouldn't have to go through everything Morgan has gone through and will go through. Don't get me wrong I wouldn't change Morgan for the world, we have been so blessed to have her and learn so much from her. So we are going to go for a consultation to really find out what its all about, the cost, the risks, and if it is something we are interested in. Can't hurt to listen and learn about it. We have an appointment at the University of Penn on Sept 22. So much to learn and think about.