The department of genetics called back today and gave me Nolan's test results. Negative for Connexin 26, Connexin 30, and for the mitochondrial A1555g mutation. Darn! I was really, really hoping for one of these since they are non-syndromic and the Connexins tend to be non-progressive.
They didn't run any other genetic tests, so now I am on pins and needles waiting for our March 26th appointment with the ENT to discuss the CT scan results. I called the ENT's office and they have the results in the office, but didn't discuss them with me over the phone. I wonder if they found something, because you would think they would say, "his scan came out normal" over the phone...
About 10-20% of the time, they never find a cause for deafness. We may be part of that statistic. I don't really care what caused the hearing loss, but do want to rule out anything syndromic. I get to practice being patient waiting for the CT scan results. If there is one thing I am NOT good at, it is waiting for results (especially when the doctor's office already has them)!
4 comments:
We were in the same boat (on the Connexin syndromes), which really didn't surprise us much, since all the kids have shown progression from the word go. The kids CTs and MRIs did show LVAS, and with the strong genetic component (being 4 for 4), our ENT and Audi. seem to think it is likely Pendred Syndrome. It's not a bad one either :) We just have to do a second round of testing now......
Have you read the book Oprah is promoting now, A New Earth? I read it and am following her book talk online (you can listen to previous shows anytime) and I really got a lot out of it, especially dealing with Luca's hearing loss.
Not knowing about test results or why, wondering how he will develop speech, what the future holds...
I would highly recommend the book.
The geneticist mentioned possible Mondini defect (which I guess can start with a reverse-slope loss), so I am quite anxious for the meeting with the ENT on Wednesday. That sometimes comes with LVAS, so I'm going to be a nutcase until that meeting! Trying to be patient...
He is NOT hearing our voices with his aids off until we're within about 1 foot of his head (without aids). He should hear better than this with his level of loss- but he has negative pressure/fluid in the ears, too. I really need to take up yoga! He hasn't had a hearing test in four months- I'm getting anxious for the next one.
Megan, I'll have to check out that book. I need some sort of "zen" right now, lol!
Oh, I hate that you have to wait. I would be going nuts too. I don't think that anyone is authorized to discuss CT or MRI results other than the doctor who issued the tests, so I wouldn't be too worried about the fact that person on the phone didn't say anything. I guess what I would do to keep from freaking out is get a tub of Starbuck's ice-cream and a good movie...that and focus on the facts in front of you, that Nolan is a gorgeous, intelligent, and happy little boy!
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