Genetics - The Final Frontier

It's so funny how sometimes a medical professional can peer into your life and immediately put together pieces that you would have never seen. We went to see a geneticist yesterday, among other doctors, and he was able to quickly identify a highly likely cause of my and my son's hearing loss. Turns out Waardenburg Syndrome almost certainly runs in my family, but because people had attributed hearing loss to other factors, nobody ever put the pieces together. It wasn't easy because the hearing loss symptom skipped a generation, but the pigmentation alteration did not, allowing us to easily trace it back 5 generations.

Not that any of this helps, since there is no known treatment, but it made for an interesting day.

Comments

Amy Kay said…
That is very intresting. I havent done the whole Genetics thing yet. Like you, we do not know the cause for mine and my sons hearing loss. Does make me want to go now though. Thanks for sharing.
January 14, 2009 at 6:58 PM
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