Monday, August 30, 2010

Genetics!

So after nearly two years, we know why Evan was born Deaf. We had our gentic testing done some time ago, with no findings to our knowledge. After a recent call to our coordinator and a suprise call from Evan's surgeon, we do have results!

Evan's deafness is genetic! It's a recessive form of deafness of the gene GJB2 better known as Connexin 26. This means that Rich and I BOTH carry the same mutaion, so this mutaion has been carried through each of our families undetected for years! It's rare to have two spouses with the exact same GJB2 genetic mutation, but when they do it's the most common cause of nonsystromic hearing loss. Luckily there are no other issues that go along with this! He is simply Deaf and we have done all the right things for him. This has validated all the nights I have cired, worried, researched various syndromes and other causes of Deafness. Wondering if we were missing something with him, fearful that it might be to late when we figured it out. There are a mutitude of health issue that can go along with Deafness in syndromes that can sometimes go undected. I am so thankful that we are blessed wtih this simple uniqueness! He is Deaf, a healthy little boy that simply hears differently than the rest of us. And yes he does hear! He hears wonderfully and speaks, more clearly each day. So thank you Connexin 26 for being no more than you are and thank you to Dr. Hanson for taking the time to call me personally with this information!

So, now we also know that the girls are potential carriers of the mutation. For Rich and I we have a 25% change of having a Deaf child, a 50% chance of having a hearing child that also carries the mutation, and a 25% chance of having a hearing child that is Not a carrier. So as potential carriers they would also have to have their spouse carry the exact gene mutaion to have a Deaf child. So the likelihood that we will see this again in our family is slim, but not unheard of obviously. So I am thankful to know the stats and be educated. So if we do see the mutaion passed on, we know exactly what to do!

Thank you to science for explaining so many things in this world. And thank you to our Lord who created such mind boggling mysteries for us to figure out.

3 comments:

  1. Crazy! Glad to see that you have more peace with this issue. It took me a while to realize that... hey! we share blood! But being that it's recessive, it appears unlikely that I'll have to deal with this issue someday. I'm sure I can come up with something else! Maybe psoriasis ... ?

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  2. How nice to know! :) And something else that he shares genetically...his cuteness!! Both mommy and daddy are pretty darn cute...so no worries there!! :) Love you guys and hop all is going well! Miss you!

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  3. I'm so glad you guys finally have an answer and can relax knowing that you aren't missing something big. It helps to cope when you have answers.

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