[gene carrier?]

Author: jan (168.215.142.---)

Date: 04-09-02 18:27

One of my parents has been diagnosed with HCM. I had an echo which my doctor pronounced clean. Now I wonder: Can I, in the future, develop HCM that will show up on an echo? If not, can I still carry the gene for HCM? Then, if I can carry the gene, what do I need to do before thinking about having a child? My doctor, not an HCM specialist, seemed to think everything with childbearing is a "go" after the clean echo.

Last, if the answer is that I can be an asymptomatic HCM gene carrier, what are the downsides to pursuing a genetic test before starting a family (besides convincing an insurer to cover it without tipping my hand as to why and possibly seeing myself dumped from coverage)? I know the law at least in my state currently protects people who get such tests, but that can always change and I fear the possibility of future employment- or insurance-discrimination if I get tested.

Perhaps a test isn't even necessary, depending on answers to my first couple of questions.

Thanks.

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[Re: gene carrier?]

Author: Sarah Beckley (---.dsl.mindspring.com)

Date: 04-10-02 02:21

Dear Jan,

I'm sorry to say that they have found some evidence that it is possible to have the gene and have a clean echo and then your kids get it. This is a low possibility, but it is out there.

I would buy as much health and life insurance as humanly possible and then get genetic testing if you are really worried about it. You should, as a precaution, get an echo every 2-5 years regardless of your decision about genetic testing. Your parent's siblings should be tested, too.

Please call the HCMA office to get the names of any HCM experts in your area.973-983-7429.

The downside to genetic testing is that yes, you are "branded" but you need to be emotionally prepared for being a carrier and the children issue. Only you can truly evaluate how this will effect you.

Please let us know how you are doing,

Sarah

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[Re: gene carrier?]

Author: BRL (---.sec.gov)

Date: 04-11-02 08:11

Jan,

Both my wife and father-in-law appeared to "pass" this down to their offspring even though they showed "normal." Yet my father-in-law lost two daughters to what appears to be HCM ( he also lost a brother).

My wife shows a normal echo and EKG but yet still passed it down to a son. Judging from my wife's family, I believe that some of these HCM genes have highly variable penetrance.

Just thought I would convey this information to you.

Best wishes.