genetic testing

[dbel]

I was diagnosed with limb onset ALS at the age of 52. My mother was diagnosed with Parkinson in her late 60s. Since there was no known ALS family history, I never had any interest in genetic counseling. Recently I watched the Les Turner webinar on genetic testing where it was recommended for all people with ALS to consider genetic testing regardless if it's the familial or sporadic type, especially as some treatments start to focus more on gene targeted therapies. My husband worries that by doing genetic testing we may find out that I have the familial type and have a risk passing it on to our kids. I thought any mutations that genetic testing may find would be an acquired mutation and not an inherited one since there is no known family history. Is that accurate? I think I would forego testing if it would add more stress and anxiety to my family.

 

[Nikki J]

No if you test positive it will be inheritable. However I strongly suggest you reconsider your reasoning. First your children would probably worry about inheriting anyway. It is extremely common to see people worried because their relative hadit, was not tested and whatif…. Further if you did have a genetic mutation it may be actionable for your children. I know FALS carriers who had ivf to avoid passing it on. Carriers of sod1 are now in a prevention trial of Qalsody. More genetic treatments will be coming and with them opportunities for prevention. Right now any carrier or potential carrier has the opportunity to participate in genetic studies. I am probably only alive today because I was in a study and thus had early detection and early riluzole. Genetic testing is a gift to your family

 

[KimT]

I have a close friend with whom I went to school. She was diagnosed sporadic by Mass General. They did genetic testing and found that she had SOD1. Since starting Tofersen, she has not progressed. She was in the trial so it's been awhile. She was diagnosed nearly six years ago and still goes on vacation, rides horses, walks.

I got genetic testing. Mayo encouraged it. Nothing came of it but I'm glad I did.

If my father or mother had ALS, I would encourage them to get tested.

 

[dbel]

Nikki-thank you for the clarification and for a viewpoint that I had not thought of.
Kim-so happy to hear about your friend's experience. I was hoping for a similar outcome.

 

[Vivienne47]

I had no family history but got tested anyway, and 14 months later (!) found out I had the C9 mutation. It has opened up new experimental treatments.

 

[Tess77]

I wish that my dad had gotten tested. It would give me better peace of mind. Maybe ask your kids if they’d want to know. I do, but some people might not.

I used to be really worried that my grandmother had FTD and my dad has ALS. But I think I just miss-understood what FTD looks like.

With only one family member with ALS they won’t allow me to get tested myself even though I have purchased a good long term disability insurance.

 

[Nikki J]

Tess who is they? Invitae needs a doctor order I think but the new light the way that Paul just posted doesn’t look like it does