Genetic Testing

4 months old....a few weeks ago...

We decided to do genetic testing for Everly to see if we could determine the cause of her hearing loss.  Genetic testing is expensive and has it’s limitations however we felt that any information we could gather would be worthwhile. 

We learned that Everly has two mutations in the Connexin 26 protein.  This protein plays an important role in the functioning part of the ear called the cochlear. Since she has two mutations, this means both Matt and I are carriers of this recessive gene.  She was lucky enough to get both of these recessive genes and thus be born deaf.

Since Matt and I are both carriers of this specific mutation, each of our children have a 25% chance of having hearing loss.  Luckily, Brooks was not in that 25% and has fantastic hearing. (Although he made it into the 4% chance of having a cleft…) Everly is obviously a carrier of this gene and Brooks has a 50% chance of being a carrier or not. 

This was the best news that we could have received.  This mutation is strictly related to hearing loss and no other syndromes.  So we can rule out the hundreds of others syndromes that could have been related to her hearing loss. We had several other diagnostic tests scheduled, such as an eye exam, renal ultrasound and EKG, that we don’t’ have to do now. This is a relief.

We learned that this mutation is very common. In fact, most babies with hearing loss are born to parents who can hear.  About 40% of newborns with genetic hearing loss not related to other syndromes have a mutation similar to Everly’s condition. 

Getting sun ready in the Dminican Republic. Already a well traveled lady.

Everly enjoyed several pumpkin patch outings this October

Happy girl!

Other than that news, we are plugging away with therapy three times a week and keeping up with her hearing aids.  She just got fitted for her fourth set of ear molds. We get new ones about once a month because she growing so fast! These ones have gold sparkles…perfect for the holidays!

I know I don’t write often but thanks for following anyway!

Love,

Elizabeth

Additional information:

“Congenital” hearing loss means that a person was born with the hearing loss. (Everly’s type)

“Acquired” hearing loss means that a person could hear when he or she was born, but developed hearing loss later in life.