I just finished putting some calls into several Genetic Counselors. The earliest we can be seen is April...of 2008. Should I be surprised? No. I mean, did have to wait almost 6 months for a sedated ABR, and Christian finally got his aids at 9 MONTHS OLD. Waiting I guess is part of this game. And I hate it!
Some friends and family have asked us why we even wanted to do the genetic testing. The answers to this test are not going to influence our decision to have more children. For that, it doesn't even matter to us. Chuck and I just want to know if Christian's loss comes from a wonky recessive gene that we have, or if it was a spontaneous occurance. IDing the source of his loss will also help us rule out any other syndromes that sometimes come with SNHL.
So, we're just going to play the waiting game...something that we are all too familiar with !
6 comments:
Don't worry about what others think in regards to getting genetic testing for your son's hearing loss. We did get get the testing also for our HOH son Randy (now 6yo) when he was 2yo. In most cases the hearing loss is non-syndromic, but sometimes it can be accompanied by other issues. Either way its good to know. Plus if you know the gene, you can be prepared in case your next child will also be Deaf/HOH.
Be prepared for a long wait to get the genetic testing results. But if you get pregnant while waiting the results, the doctor may tell you sooner.
Yep....specialists take a while! I don't blame you for wanting to do the testing, though...it probably would have been a good idea for ME to have done it before having five children! All of my children are hearing...but one has a little trouble with her ears...and I have no idea if we have something hereditary to look forward to or not.
We just did the genetic testing last week (for C.-something 26) and I called back to get the results yesterday. They told me it takes 4 weeks, sometimes a little more. I thought that was a long time! We lived in Colorado, and fortunately, everything from the sedated ABR, CT scans and genetic testings has been relatively timely.
Ugh- it seems like everything takes so long! I wish they would do the genetic testing first (for Connexin 26, etc.) so that these little guys didn't have to go through as many medical tests to rule out various syndromes!
We did the genetic route and it took us a year. I wanted the genetic info mostly for my neices and nephews. It was a bit of a surprise to discover which ones had the gene and which did not. It was especially hard on my cousin who recently lost her hearing and learned from the test that all three of her kids had the gene.
Wow! I can't believe how long you have to wait. That is hard. :(
I fully understand wanting to explore the "Whys". We were the same way.
We were lucky and Erin's ENT went ahead and ran the bloodwork on Erin to test for Connexin 26. She came back positive.
So that told us we were both carriers of the recessive gene. We never had to visit a genetic counselor.
I am only now realizing how fortunate we were to have the tests run so early and so easily.
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