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.
