Saturday, January 8, 2011

Update: Activation delay and Connexin news

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.

Thursday, August 11, 2011

Hard questions, no real answers

Since discovering Sophie's hearing loss is genetic, I haven't spent too much time thinking about it. It has been in the back of my mind, a small worry just waiting to take over. Our ENT initially discussed Sophie's test results with us in January, but he was unsure because Sophie tested positive for an altered copy of two genes that cause hearing loss (Connexin 26 and 30). Anyway, we went to see a geneticist earlier this week to get a better understanding and make sure we have all of the facts straight.

Even though there is no history of deafness in our families, Jared and I each inherited an "altered" copy of a gene that causes hearing loss. 1 in 33 people carry this altered gene. (Our genetic counselor prefers to use the word altered over flawed or mutated, which I thought was hilarious, but obviously PC.) This means that our siblings each have a 50% chance of carrying the same altered gene and potentially passing it on. If or when we have future children, there is a 25% chance they will have hearing loss. If any of you previously read this post, it gives the possible scenarios. Since Sophie received two altered copies from us, if she has a child with a person who is also a carrier, there will be a 50% chance her child will have hearing loss. If she has a child with a person who also has hearing loss caused by Connexin, her child will have hearing loss as well.

We had done our research ahead of time and there were really no surprises from our visit. I'm glad we went and were able to talk to an expert, though. I feel much better having our ideas confirmed.

Since this visit, I can't seem to shake the aforementioned worry. I feel very indifferent and keep looking at things from a different perspective. We have always wanted more than one child, and still do. But now I can't seem to stop thinking about all of the "what ifs?". Although Sophie is doing great and I feel like we could do it again, she is too young to even know she is deaf. What is going to happen when she does? How hard is it going to be for her? Could I bring another child into this world knowing that they too may face this struggle? Is it selfish to want another child? Then there are times that I just cannot imagine Sophie NOT being a big sister. She is so sweet and caring already and I want her to have a sibling to share her life with.

I know that these questions cannot be answered because there are no real answers to be found. Life just happens and you have to adjust and learn the best that you can. I surely never thought I would be faced with something this heavy so early in my life, but here I am. And I know that there are families out there that have harder struggles, heavier hearts, and the weight of the world on their shoulders. Even though I worry about what our future may hold, things could be so much worse and I am thankful each day for what we have been blessed with. I know that we will make the right decision for our family when that time comes - I'm just not quite sure what it is yet.

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