I had thought that I would be able to have my genetic testing done through my OB/GYN's office this week for the mitochondrial abnormality that was found in Drew. I thought when they told me their lab ran this test it was too good to be true, as it is a very rare abnormality. It turns out that I was right. Their laboratory will only run the test for the connexin 26 abnormality, which I already know I carry. It is the testing for the mitochondrial abnormality that is crucial for me to know in order to understand my risk and my daughters risk of aminoglycoside induced deafness.
At this point, I am very frustrated. It seems to me that it should be easier to have this testing run. And it seems that I am the only one concerned about getting results, maybe because it is my hearing at risk. I do not know what else to do at this point. I have contacted Dr. Choo's office on several occasions regarding this testing, and his nurses tell me that in order for Cincinnati Children's to run the test I will have to have an audiogram test. They referred me to my primary physicians. Now I know that they do not have the capability to run these tests, my only option may be to have the testing run in Cincinnati.
I am going to talk with Dr. Choo about this at our CI consult on January 22nd, since he is the one that told me I needed to be tested. My hope is that he will order the test that day or refer me to a geneticist for further evaluation.
4 comments:
hi I recieved a comment on LJ from drew's dad.
thanks for the comment, I just checked out the blog. I haven't read through it yet, (not fully, just skimming) but I would go back and read through it again.
I hope things work out with Drew and his hearing.
I've been thinking about cochlear implants for a long time, but never really felt sastified if I should do it. I've been using the hearing aid since I was one year old (I'm 21 now).
Anyways, I just wanted to drop off a note and say thanks for leaving a comment. I'll be checking your blog up.
Take care and the Best,
stephanie (lj user = zero_reality )
Hello,
I am Shiloh, mother to Isaac who has a cochlear implant. I found the link to your site from Erin Toes site. My husband and I understand the emotional journey that you are on, except we did not have the genetic testing done. I am pregnant again and due in May and now am wondering if I should have had the testing. We wish you luck on your journey with Drew. Feel free to look at Isaac's blog it is at http://isaacsjourney.blogspot.com
God Bless you and your family!
Hi,
We just returned from Cincinnati Children's where Ethan had a mapping today. We LOVE going there, even though it's a heck of lot farther than Columbus, they're so wonderful that it's worth the trip. Best of luck with it all and keep your chin up, you are doing a great job! I'm so impressed with us! (Grin)
Ethan say thanks for checking out his blog and he really hopes that he and Drew can play someday.
-Heather
Hello and greetings from Tennessee. I just found your blog through another one. Drew is lucky to have you for his parents! I, too, was born with a severe/profound hearing loss and through genetic testing at Children's Hospital in Columbus, it was discovered that both my parents had the recessive gene even though there was no family history of deafness. My parents were told I would never have a normal life, learn to talk, etc. and were told to put me in an institution. This was almost 50 years ago. My parents worked with me through the John Tracy Clinic and I was always a part of the hearing world. Never learned to sign. I was also the first student to participate in a "new" ORAL program at Ohio State and there I learned to talk and hear with my hearing aids at the age of 2. To make a long story short, I will be getting my second implant on January 30th. I recieved my first one 1 1/2 years ago and love what I hear compared to my hearing aids. All things are possible!
Good luck with your journey with Drew. I will bookmark your blog and keep up with his progress. May I add your link to mine?
Laurie in TN (who grew up in Columbus, Ohio)
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