Monday, April 13, 2009

Connexin 26

We finally got a call back from Lily's ENT (ear, nose, and throat doctor) informing us that her daddy and I are both carriers of a recessive Connexin 26 gene mutation. This means that we have a 25% chance of having deaf children. Her daddy and I each passed Lily a flawed copy of the Connexin 26 gene (CX26), which is why she is deaf.

Possible scenarios:

1. Lily receives an unflawed copy of CX26 from her daddy and an unflawed copy from me--Result: hearing.

2. Lily receives an unflawed copy of CX26 from her daddy and a mutated (flawed) copy from me--Result: hearing.

3. Lily receives a mutated copy of CX26 from her daddy and an unflawed copy from me--Result: hearing.

4. Lily receives a mutated copy of CX26 from her daddy and a mutated copy from me--Result: deaf or hard of hearing.

This is true for any children we will have in the future as well.

It is nice to finally know WHY she is deaf. It is comforting to know that it was nothing that I did wrong while I was carrying her. When we first found out she was deaf I wondered what I did wrong. I tried to be so careful and do everything right. It also makes me a little sad though to think that she has NEVER heard anything, not even in the womb. She's never heard her mommy's voice. I'm so looking forward to the day when she will be able to hear our voices.

4 comments:

  1. That day will be an amazing one too! It must be nice to have closure about with the Connexin 26 diagnosis. Glad to hear that you figured out the stinky ear problem! Hope you're well... love reading your blog!

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  2. My son Christian also is deaf due to Connexin 26 (he has a CI), and my daughter (also a LILY!), was born hearing 11 weeks ago. Even if Lily can't hear your voice through her ears, she can hear you in her heart. You can check out our blog at www.livelaughlovefamily.blogspot.com

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  3. I know how you feel. It's bittersweet news, getting a Connexin diagnosis. But Connexin kids do really well with CIs. Just found your blog on deafvillage (the mention of Connexin caught my attention!). Good luck!

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  4. Nice to have a reason. We dont but there again does not change the outcome. Mary is still deaf. And brilliant.

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