Confirmation of Diagnosis

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C-NICE

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Just got my report from the genetics lab at Cleveland Clinic. Diagnosis confirmed(Progressive SN Loss). They can't seem to lock down the specific culprit gene though.
 
Re genetic tests: I knew positively my senorineural loss is "genetic". I got from my father and all his brothers had the same condition. I declined to take a test to determine which of apparently a number of different genes "could be involved". Knowing which- would to me make no difference on what to do with the condition-deafness.

Implanted Sunnybrook/Toronto- Advanced Bionics-Harmony activated Aug/07
 
My genetic test showed no cause, but the meds from birth probably caused it but then I was told I have a recessive autosomal deafness gene... .I've no idea which is true.
 
Damn. I mean at this time how important is it to know exactly which gene is causing the deafness. I mean there's a whole family tree of evidence staring this person in the face. What's the point to taking on the added expense to determine exactly which gene? Is there something I'm missing?
C-Nice, I live in the Clev area and was wondering what kind of a ordeal it was to be tested? Do they just take blood? Were you there all day? Did your insurance cover everything? Did you actually go to Clev or could they do the testing in one of the Clev Clinic branches? Thanks.
Go Browns and Tribe. See I have a sense of humor.
 
Hask12 said:
Damn. I mean at this time how important is it to know exactly which gene is causing the deafness. I mean there's a whole family tree of evidence staring this person in the fact. What's the point to taking on the added expense to determine exactly which gene? Is there something I'm missing?C-Nice, I live in the Clev area and was wondering what kind of a ordeal it was to be tested? Do they just take blood? Were you there all day? did your insurance cover everything? Did you actually go to Clev or could they do the testing in one of the Clev Clinic branches? Thanks.
Go Browns and tribe. See I have a sense of humor.
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I'm with you on that. If I had been planning to have children, I might have been interested in running some sort of genetic testing, to see for sure if my hearing loss was genetic or environmental. Evidence points to environmental, but why was I susceptible when most people aren't? Might have been useful to know, so I could think about it in terms of passing that on to future children or not.

But just for my own knowledge - eh, I can spend my money on better things. I understand some people want to have a full genetic work-up, and more power to 'em if they feel they want those answers. For me personally, I don't really care. I wanted to make sure my hearing loss wasn't caused by a brain tumor or something like that; once those questions got answered, and I knew there was nothing I could do about it and no medical treatment was going to change things, genetic testing wasn't even on the radar.

Jillio, just curious, how far do you go with genetic testing? Are you in favor of (or have you already) had a complete genetic work-up to test for likelihood of being susceptible to Alzheimer's or similar issues of concern for those over 50? Do you want to know everything lurking in your genes or would you rather just deal with whatever issues come up when they happen?
 
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I'd like to know what genetic mutation I have. It would help identify the proper treatment and give me an idea of what to expect. I haven't been able to find out either. I hope that will change in the future. Right now sequencing is too expensive to be practical. Genetic testing for specific mutations is hit or miss.
 
My Reason

Me and my wife are planning to start a family soon. When I was first diagnosed a great deal of my older relatives had passed on and family history on the subject was spotty at best. Let me be clear I have no issue with may hearing loss except one and that is if I had known this is something that might come my way certain decision like my present career would have been different. I also have no issue with any children I have being hearing Impaired but I do want them to have the information they will need up front so that they can make some informed choices
 
Wirelessly posted (droid)

I understand. I already have two great kids. Wouldn't have it any other way. I'm pretty sure they inherited the gene. I don't want to poke on them to confirm it. Hearing loss is not a major concern. I'm very concerned about issue that will impact my kids health.
 
For me, I'd rather find out about stuff I don't know about, rather than what I do, if that makes sense.

No one in my family showed any signs of Alzheimer's, for instance, although my mom showed some forgetfulness in the last couple years of her life (91 when she died). Might be good to know, so hubby and I can think through living arrangements and that sort of thing sooner rather than later, if necessary.

My grandfather died of a brain tumor in his early 40's. If that sort of tumor is genetically relevant, also might be good to know.

My hearing - well, it's down around the severe/profound area. No one else in the family has any hearing loss. So, good idea for the nephews to get checked out genetically, or not? I'd put my money on "not," considering everything. And certainly "not" for me, it wouldn't make any difference now to find out there's some defective gene in there.

It's amazing what we can find out by genetic testing, but how much money, time and effort are worth putting into it to find every possible thing, I don't know.
 
I met a person who did not know whether she inherited the early-onset alzheimer gene which is fatal. She didn't want to know because she didn't want it to alter her life. I think that I would feel the same way. All other forms of alzheimers are not exclusively genetic and taking care of yourself will make a big difference.

Once there is a cheap reliable way to sequence, we'll probably carry out genetic code on a chip. That would help predict whether a treatment will be successful, responses to drugs, etc. Oncologists already use genetic tests.
 
I was just tossing that out as one example. I'm already too old to worry about early-onset anything!

But in general I'm a planner. I'd want to know. Since we don't have kids, there is no one who is automatically going to pick up the slack when/if we need help, so we do need to think ahead anyway. If I knew that my husband or I was definitely susceptible to some sort of ailment, it might make a difference in choosing where to live, certain aspects of financial planning, etc.
 
LOL@BG. You're hardly ready for the old folks home! :lol:

I like to feel in control, like I can make decisions and plan. It rarely works out that way. Life is what happens to you while you're busy making other plans. I've learned to be flexible and hold on for the ride. :P
 
Well, thank you kindly, ma'am! I'll try to resist that old-folks home long as I can!

But I am a planner. I saw the way my mom planned ahead, so when she needed to go into assisted living, she had the funds available to do it, to stay at a nice place. Ever since I was 30, I planned to retire at age 55, and I saved ahead and was able to do it. Wanted a red convertible (I know, I know, typical mid-life crisis!) and I got one a few years ago.

There is plenty in life that you can't plan for, obviously, but there are plenty of things you can do to be well-armored, you could say, to be better equipped to roll with the punches.
 
Presumably one can be "tested" for any genetic possibility eg alzheimer/whatever. Then react to the facts in one's circumstance.

Implanted A B Harmony activated Aug/07
 
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