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.

2 comments:

  1. I totally get it. We are a Connexin 26 family too. We finally have our heads above water. K is doing great, we made it, but can we do this again? I think about having another child everyday. Someday we will make up our minds, but for now I will just continue to take my prenatal vitamins... and my BC!! ;)

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  2. We are expecting a 3rd daughter in December, and wonder if she will be deaf like Sophia. We didn't do the genetic test so we don't really know the chances...but if she is, she's going to have great friendship in both her deaf and hearing sisters. If not deaf, then I'll be happy for her too, obviously. She'll be a lucky baby either way. When I was pregnant with my first child (who turned out to be hearing) I was terrified she would be deaf. Then it happened with the second...and it was not so bad after all. You celebrate every milestone even if it comes a little later, and of course, you find that she's/he's a wonderful being you wouldn't have any other way.

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