We received the results of the genetic testing done on Ben's bloodwork. All of the tests were negative, which means Ben's deafness was not caused by the Connexin 26 or Connexin 30 gene mutations or mitochondrial abnormalities, the three most common causes. His deafness could very likely be caused by some other gene mutation that is unknown at this point, or there is a small chance it may be caused by a syndrome of which deafness is just one symptom. Most often sensorineural hearing loss is of an isolated genetic cause and doctors are just not able to determine the gene. The CT scan Ben will have sometime in the next few months might be able to give us some more information. We were disappointed to learn that we may never know the cause and that we are not able to rule out a syndrome at this time. The statistics are on our side - in approximately 70% of children born with sensorineural hearing loss (SNHL) the cause is non-syndromic. We may make an appointment to sit down with a geneticist in the future to find out about any new testing that might develop. For now, we are moving forward with the knowledge that we have a beautiful, healthy, and happy baby boy who is learning and making advancements every day, and with our faith and fervent prayers that God will watch over and protect Ben and all of our children today and every day throughout their lives.
For more information on the genetics of hearing loss go to here and here.
4 comments:
We are struggling whether or not to do genetic testing - our insurance won't pay for it, so for now, we're not. I can't imagine never knowing the cause of our baby's deafness, yet they say that 25% of the cases they never know. There will always be a little part of me that wonders, but something I definitely don't dwell on. You have a beautiful baby boy, I'm so glad he's healthy, and like you said, ENJOY EVERY MINUTE OF HIM! This time goes by so quick! I can't believe Aiden is already almost 3 months! We're lucky moms to have been blessed with healthy, beautiful baby boys! Thanks for sharing your story - I look forward to keeping in touch as we walk this path together!
You have such a wonderful attitude, and such a beautiful family :) Focus on what you DO know.
Hang in there!
My son was born in December 2007 with bilateral severe-profound sensorineural hearing loss. Reading your blog today reminds me of exactly what I'm going through. He is being followed at CHOP. We're doing the work up right now that was recommended by the ENT. He's been to the opthamologist, had an EKG, urinalysis, is having an MRI in early July, and so far there is no known cause. I called today to set up a genetics evaluation - it's taken me a while to gather up the courage to call. We return to CHOP next week, and we will soon meet with their cochlear implant team. We really hope that he will be a candidate. I just started Lucas' blog last week - check it out. Thanks for reminding me that I'm not alone. I wish you luck in your journey. http://www.lucasreedcampbell.blogspot.com
No one has ever approached me about having the genetic testing done to see if my deafness was caused by Connexin genes. I still do not know to this day the cause.
The important part is that you have a healthy baby boy!
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