reliable info for offspring considering c9orf72 testing

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steve613

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Joined
Sep 26, 2021
Messages
22
Reason
Loved one DX
Diagnosis
9/2021
Country
US
State
FL
City
Boca Raton
We just informed our kids that their parent has the mutation. They will all seek genetic counseling and possible testing, but are there any reliable websites that can provide up to date and careful background reading?
thanks
 
What are you looking for? Information on c9, on autosomal dominant genetics or on c9 testing specifically?

there is some concern about genetic discrimination It can definitely be an issue if there is a positive test but some people worry that just the counseling could be problematic. health insurance is protected by both Gina and preexisting condition protection but life, disability and long term care insurance are not. There is often advice to get these things ( if desired) before starting the process. People have also been told that testing in a research study is not something you have to discose as long as you do not tell your regular medical provider who would enter it in your record. However, I recently heard a legal expert say this isn’t true.

speaking of research, the children ( assuming these are adults.) would be eligible to participate in research studies for carriers. Genetic counseling and testing ( with option not to know) would be part of this as well as contact with expert ALS neurologists. All studies currently have waiting lists ( Miami, st Louis, NYC and Boston). mayo may have something though less FALS specific. There are also supposed to be sites added for the DIALS ( Boston and St Louis) study
 
My wife was diagnosed with ALS in October, 2017 at the Mayo (FL); diagnosis was confirmed in November, 2017 at Johns Hopkins.

Upon deciding to know, she was notified that she had the C9 mutation in January, 2018 (again, confirmed by Johns Hopkins).

The Mayo and JH offered our 4 adult children (3 live in northern VA and 1 in FL) genetic testing and counseling (outside of a formal research study) at no charge and the option to know or not-know the results of testing. All 4 gave blood samples and 1 additionally gave 2 rounds of spinal fluid (taps) to the Mayo - the Mayo paid for all travel expenses from northern VA for the spinal taps.

I do not know and have not asked my children if they opted to find out the results of this testing. I did advise them beforehand that if it were me, I would opt to not-know. A positive result could weigh on them, psychologically, for years (with no symptoms); whereas, if they didn't know, but started to develop symptoms down-the-road, they would have the option of getting re-tested and know for sure.

It should be stated that all 4 already had children, so the decision to know or not-know was not impacted by fear of potentially passing the C9 mutation to their children.

My wife passed away, from ALS, in June, 2020.

Hope this helps.
 
Thanks, both comments are great. We have an appointment today (!) at Mayo Rochester and will inquire about family testing and counseling.
 
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