The title says it all. Savannah tested positive for the Connexin 26 mutation.
We knew she had tested positive for the Connexin Gene but we where unsure until today which one she came under.
Basically in a nutshell Each person carries 2 copies of this gene, but both myself & Alex carry a flawed Gene each. In Savannahs case we have passed both our flawed genes to her which results in the deafness.
What this means for her is, that she will definitely carry this gene to her children but it will depend on her future partner which will determine whether her children have hearing loss. If her partner does not have a flawed gene, their children will have normal hearing but will be carriers. This was what i was so worried about. I really thought because Savannah wasn't hearing that her children no matter what would be deaf also. So I'm so glad to have received this news.
It also means 1:4 chance for this new baby to have hearing loss, 2:3 chances of being a carrier if he doesn't have hearing loss & 1:3 chance of being completely normal & having 2 normal connexin 26 genes.
The two older boys will not be tested for the gene, but the same applies to them. 2:3 of being a carrier & 1:3 chance of not having any gene flaws.
Overall we cannot change the outcome but happy we finally have the answer to why Savannah has her hearing loss.
After decades of this gene being in both of our families, all it takes is to meet your lifelong partner & for them also to have a flawed gene to as i like to put it "activate" the hearing loss.
here are 2 pictures to explain a little better than i probably can.
This picture relates to Myself & Alex & the kids.
this picture relates to Savannah & her future partner
We are glad to have found out what caused Savannahs loss, it doesn't change anything for us, other than having the knowledge on how this effects the kids later in life.
Doesn't matter whether or not this will effect our upcoming addition, we are blessed already to have 3 healthy children & 1 which happens to have the hearing loss.
Basically in a nutshell Each person carries 2 copies of this gene, but both myself & Alex carry a flawed Gene each. In Savannahs case we have passed both our flawed genes to her which results in the deafness.
What this means for her is, that she will definitely carry this gene to her children but it will depend on her future partner which will determine whether her children have hearing loss. If her partner does not have a flawed gene, their children will have normal hearing but will be carriers. This was what i was so worried about. I really thought because Savannah wasn't hearing that her children no matter what would be deaf also. So I'm so glad to have received this news.
It also means 1:4 chance for this new baby to have hearing loss, 2:3 chances of being a carrier if he doesn't have hearing loss & 1:3 chance of being completely normal & having 2 normal connexin 26 genes.
The two older boys will not be tested for the gene, but the same applies to them. 2:3 of being a carrier & 1:3 chance of not having any gene flaws.
Overall we cannot change the outcome but happy we finally have the answer to why Savannah has her hearing loss.
After decades of this gene being in both of our families, all it takes is to meet your lifelong partner & for them also to have a flawed gene to as i like to put it "activate" the hearing loss.
here are 2 pictures to explain a little better than i probably can.
This picture relates to Myself & Alex & the kids.
this picture relates to Savannah & her future partner
We are glad to have found out what caused Savannahs loss, it doesn't change anything for us, other than having the knowledge on how this effects the kids later in life.
Doesn't matter whether or not this will effect our upcoming addition, we are blessed already to have 3 healthy children & 1 which happens to have the hearing loss.
There is something about knowing. We actually opted out of genetic testing (because our insurance would not pay one cent for it) and came to peace of not knowing but when we moved states and Aiden's CI surgeon looked at his MRI he could tell right away that his loss was due to EVAS. Knowing was more of relief than I thought. Plus, it's a huge help in understanding other things going on such as all of Aiden's low tone/balance problems. Nice post explaining the Connexin Gene.
ReplyDeleteThankyou Tammy! I must have written this post & edited it many times because its such a hard thing to explain without getting too indepth with the medical stuff. We are lucky enough that everything so far for savannah has been paid for, but the waiting for the genetic counsellor was long. We opted not to have it early on & when we found out we where expecting another baby thought it was probably best. Like you such a relief in knowing now. Is EVAS genetic at all? Or is it something that just happenes? We have had no dealings with that & that was to be the next thing ruled out if the tests came back neg for connexin 26.
ReplyDeleteWow, that is so interesting. Something you don't think about until it happens. I'm so glad you finally know! And I LOVE LOVE LOVE the pic of Sav on the top of the blog!!! How cute is she??!!!
ReplyDelete