Well, the past couple of days have not exactly gone as planned. As my husband puts it, we had a hostile takeover by the flu in the Pratt household! Sophie's activation was cancelled yesterday and is now scheduled for Monday. What's three more days, right? Ugh! Anyway, I was the last to get sick and I'm starting to feel much better. So, Monday it is!
In other BIG news, Sophie's ENT called a few nights ago with the results of the blood tests that were taken during Sophie's surgery. Her deafness was caused by a mutation in a gene called Connexin. Every person carries two copies of this gene and Jared and I must each carry a flawed copy, which was passed along to Sophie. I haven't found any solid research recently, but I remember in the early days of Sophie's diagnosis, we were told that approximately 1 in 33 people carry a flawed Connexin gene. So, what does this mean? If Jared and I have another child, there is a 25% chance that the baby will have hearing loss. Here are the scenarios:
* Jared and I both pass a regular copy of gene to baby = hearing
* I pass flawed copy and Jared passes regular copy = hearing
* I pass regular copy and Jared passes flawed copy = hearing
* Jared and I both pass flawed copies to baby = hearing loss
My first thought was, "Gosh, what are the chances?!" Even though 1 in 33 people may carry a flawed copy (which is relatively common), what are the chances of two carriers having a child together? I guess when you come from a small town and marry someone you were friends with as a young teenager, those odds grow a little higher...? ;)
Anyway, I have been contemplating this news and I feel very indifferent about it. First of all, we finally have an answer! I can stop feeling guilty and questioning everything that went on during my pregnancy. Also, hearing loss caused by Connexin is non-syndromic. This means we have no reason to worry that Sophie will have any other problems that are associated with hearing loss (vision problems, learning disabilities, etc...). Additionally, research has indicated that children who have deafness caused by Connexin do wonderfully with cochlear implants. Of course, we are saddened with the news that we may be facing the same challenges with another child. I had to hold back tears while I was on the phone with Dr. C because I knew what the Connexin news meant for our future. We have much to think about and plan on seeing a genetic counselor to get more information.
This was bittersweet news, but we are very relieved to have an answer.