Aidan has been referred for genetic testing and we are scheduled for a genetic evaluation on May 13th. From what I understand they will take a history and get all of his information from the other doctors before this appt and then will decide if they think he should have it done. I'm fairly positive that they will do it. We still do not know if insurance will pay for it. I called our insurance company and they need the codes of the tests first and then they can tell me. However I really don't think the genetician(is that what they are?) would be willing to give me the codes, she was quite nasty on the phone when I called last time for some information. So I guess we will get in the thick of it and then find out if insurance will cover it. We will definitely find out before we start the tests as they are very expensive--we are looking at anywhere from 1800-7000 depending on which tests they decide to do.
In my quest to find out some information on genetic abnormalities that cause hearing loss, I decided to also look up any disorders/syndromes that also have hearing loss as a symptom. None of them fit except possibly Usher Syndrome. It is characterized by severe to profound deafness occuring at birth or shortly after(Have that) and a progressive loss of vision. The loss of vision can happen in the first couple of years or it can take several years before it starts. So I freaked and made an appt to have his eyes checked.
Aidan is farsighted in both eyes, one eye was +2.0 and the other was +1.75. I believe this is mild farsightedness. Since a lot of babies are born farsighted and it gets better over the first several months, we aren't sure if this is leftover from that and it is still getting better or if it is getting worse, or the same. If I had had his eyes checked at 6 mths, then we would have a better picture. But no, we were too busy with the ear problems. He will be checked again in August and if it is the same or worse then it probably isn't getting better and we will most likely do glasses. Not sure how we will get glasses AND his implants on but I'm sure we will figure that all out when the time comes.
Oh and the Dr saw no sign of the retinitis pigmentosa(the thing that causes the progressive vision loss) but she did say that that doesn't mean he doesn't have it, we need to do routine checks(every 6 mths) to make sure it doesn't develop. I do believe that if the genetic testing rules it out then we won't have to check so often.
I'm that mom
16 years ago
5 comments:
My children have hearing loss due to Connexin 26. Children can be born with any degree of hearing loss and it seems that there is a 50% chance of progression but it comes with no other symptoms, just hearing loss or deafness.
Ericka--that is what we are hoping it is, a connexin issue with no other symptoms rather than any other number of things that come with other problems.
I hope it's just a hearing issue and not a greater genetic syndrome problem.
(And the word you're looking for is "geneticist.")
Thanks Jude! I even used that word in a different post, but it completely slipped my mind.
My son is deaf from connexin 26 as well. We were so relieved to find out the reason but also know lots of kids who don't know why they are deaf but they have no other issues. If it turns out to be Usher's, I know two moms who would be more than willing to talk with you about their experiences with their children with Ushers.
Post a Comment