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.

More speech!

So summer is soon to come to a close and school will be in full swing. Well a couple more weeks, but I am getting plans set up ahead of time. I am working again to push for speech, speech, speech, for Evan! The twice a week that is recommended has never happened :( I was able to get twice a month and the way the summer has gone, unfortunately has ended up only once a month! I am very worried as know I am doing great things with him at home! I am just disappointed that he isn't getting what I think he really needs. So I am seeking out more private speech services. He is currently on a waiting list to get into a regular time slot with an SLP only 30 mins. from us. That will be a weekly service and the SLP seems to be very good with Evan and I think he will do well for her! I have also put his name into the I Hear program in St. Louis! Although we have been playing phone tag, I am excited to visit with the head of the program and get the ball rolling for that! I have heard it is a great program! I really wish there was someone with AV training in our area and bummed that really not many SLP's really get it. We aren't strictly AV, we do use sign as support. Thank goodness or it would have been a real struggle this summer at the pool! So we have a lot to learn, the girls will be back in school learning, and Evan will continue to learn to listen an to speak along with many other wonderful things his sisters will teach him! Those 3 keep me on my toes and I love every minute! I just hope I am doing everything they need me to do!