Sunday night, around 8pm our phone rang. The Caller ID tells me that it's our Geneticist from Children's Hospital. My stomach rolls, I look at Chuck, and pick it up. My first thought is "Whenever a doctor calls you this late, it can't be good".
We have a 10 minute or so conversation. I ask questions. I'm stunned.
I hang up. I cry.
Ok, I sob.
I struggle to get the words out to Chuck. He tells me to get it together because he wants to know what the heck is going on.
"It's Genetic. It's Connexin 26".
Thank God that I have a practical, put-together, ENGINEER for a husband. Chuck has this amazing ability to get to the root of a situation, remove the emotion and get to the facts...which, for everyone who knows me, knows that's something that I can't do on my own. Maybe it's because I'm a Mediterranean woman who wears her heart on her sleave. Whatever it is, it's just the way I am. And Chuck balances me out perfectly.
We sat down and I explained to him what the doc explained to me. As the facts were leaving my lips, I was slowly starting to realize that the news is not bad at all. In fact, it's good.
In very simplified terms, Connexin 26 is a protein that helps the inner ear function. When the protein is disrupted, the functioning of the inner ear is disrupted...resulting in a hearing loss.
It turns out, that Chuck and I are hearing carriers of the recessive mutated Connexin 26 gene. 1 in 35 people in the population carry the recessive mutation, and are called "Hearing Carriers". Chuck and I are hearing carriers. One of our parents on each side is a Hearing Carrier too...
Think back to your biology days doing Punnet Squares. Chuck and I each carry a BIG R (which is the dominant hearing gene) and a Little r(the Recessive mutated gene). We each passed down our Little r's to Christian.
It turns out that as Hearing Carriers, we have a 25% chance in each pregnancy to pass down the recessive gene to our babies, resulting in a hearing loss. Talk about odds...
Over the past several months, Christian has underwent a myriad of testing from renal-bladder ultrasounds, EKGs, and complete opthamological testing to rule out any other syndromes that may present themselves with the hearing loss. Due to the Connexin 26 diagnosis, we now can almost certainly rule out other syndromes, which is FANTASTIC NEWS. With Connexin 26 deafness, it usually is not progressive. We also can be pretty confident that his hearing loss is NOT due to a malformed cochlea. Which is even more wonderful news, as it makes the possibility of a Cochlear Implant for our kid even more real. Alot is known about Connexin 26, which is fortunate.
This diagnosis FINALLY puts the missing piece in this puzzle of Christian's hearing loss together. As his Mommy, I can FINALLY stop wondering if his Deafness was something that I caused during the pregnancy. I can't tell you how many times I wondered if one glass of wine did it, or when I was sick on-site at my last Convention that I directed. I am FINALLY free of the guilt. Sure, it's alot to take in. Sure, it absolutely SUCKS. However, as always, it could be worse. If this is all we have to deal with, we're lucky.