Testing for Familial ALS

[ElleT]

We just found out our family gene (C9orf72) so testing is now an option, but I'm not ready to do it at this point. I'm curious, if you have tested, what made you decide to do so?

 

[Nikki J]

Re: Testing

Hi we are c9 as well. Testing is a very personal choice. I had a very strong feeling that I would be positive ( I am)
For me the advantages to testing besides no longer wondering were 1 some practical choices I thought I would make ( knowing did make a difference practically though not in the way I expected) and 2 and most important the opportunity to fight this by participating in research. Mostly they are searching for biomarkers that will allow early diagnosis and also help clinical trials but also they are able to make sick motor neurons from my skin that are used in lab studies and also preclinical drug studies.
There is a FALS group on FB, are you part of it?
There is also trea tment on the horizon for c9. Something called antisense. Check out c9 id on fb
Sorry for your family FALS is a nightmare!

 

[ElleT]

Re: Testing

Hi Nikki,

I admire your decision to test and participate in research. I know at some point I will probably need to know if I carry the gene. My father died of ALS over 20 years ago so I've had to live with the knowledge that I'm at risk for quite a while. I've done a pretty good job of not worrying about it too much up until the last year or so, but I am now the age at which my father died of the disease. My aunt (his sister) was recently diagnosed with FTD so there has been a lot going on making it hard to not think about it. My cousins are freaking out because they now know they are at risk as well. I agree, FALS is a nightmare!

I used to read the posts on the FALS Facebook page but now that it has become a closed group I am no longer able to. I was afraid that if I joined it would show that I belonged the group on my Facebook page. I don't want my kids to see that I am a member of that group.

 

[hjlindley]

Re: Testing

There are several reasons to get tested for this gene. It does occur in sporadic ALS, and we may be as little as 18 months away from a gene treatment. According to the people I've talked to, it's usually paid for by insurance. And with the added news that they found a carrier that crosses the blood brain barrier, this may be hope for the perhaps 20 or 30% of us that are sporadic with this gene. I intend to get tested as soon as possible.

 

[Nikki J]

Re: Testing

Hollister I agree that testing for c9 is a good idea in SALS although I have not seen the 20% number thought is was more 5-10 %. And the first tri als for antisense in c9 are supposed to be less than a year from what I was told. The OP is in a different place though she has a known c9 family and no symptoms. I personally would choose testing if I were SALS and it is probably paid for if you have ALS. Mine was not unless I lied and claimed symptoms which aside from anything else would be truly jinxing myself!
Good luck with the test, Hollister. Weird to say but I hope you have it!

 

[sadiemae]

Re: Testing

Be sure to get long term care insurance and life insurance BEFORE you begin the testing process. You can always cancel of you do not have the C9 gene.

 

[hjlindley]

Re: Testing

I am extremely lucky that I bought long-term care insurance 13 years ago when I watch my mother try to recover from Guiallane Barre syndrome. I am certain I'm going to get my money's worth out of that. I'm lucky that my wonderful husband is still working and I have his insurance as primary and Medicare's backup. But that's a really good point! I'm also lucky that I used to be the marketing consultant to a home healthcare agency, so I know when I need someone my friends will be taking it personally.

 

[Jeff Long]

Re: Testing

ElleT,
What made me decide to get the testing? Well actually, I was at the quarterly clinic last year and a group that was doing research offered the testing at no cost to me. Since I'm about as cheap as they come, I figured this was my lowest price!
Took several months to receive the results, but in the end there are no indications that there are gentic markers in my case.

 

[ElleT]

Re: Testing

Sadiemae - Thanks, I actually purchased long term care insurance a year ago, prior to learning our family is C9.

 

[ValleyMomma]

Re: Testing

We have the SOD1 in our family. However, we decided not to get the testing. Not sure there really is a need to from our perspective. My spouse is thinking he may want to get it, but I am not in favour of it so he will pass.

Not sure of the differences in the different familial types and how they impact the disease or who gets it. I know that SOD1 is quite aggressive. How about the C9?

 

[Nikki J]

Re: Testing

I am so sorry. c9 is also more aggressive than average but generally not as virulent as the av4 variant of sod1
Have you looked into accessing US trials? There are 2 dru g studies now that are specific to sod1
Best wishes
Nikki

 

[ElleT]

Re: Testing

Nikki - Thanks for the information earlier, apparently I can't respond to PM's yet.

 

[ValleyMomma]

Re: Testing

We haven't looked into any drug trials yet. Not sure if he's interested. We should probably talk about what's offered though. Our first experience with our ALS clinic was not positive so we'll see.