Recent content by AniSk

To follow up, I spoke with the genetic counselor today and asked about cheek swab vs. blood draw. She said that the only drawback from using the swab, could be that they may not get enough DNA to test, however there is quality control done first so they would know before testing. If that were...

I figured that they are a pretty reputable research program and wouldn’t offer it this way if not accurate but still, it was nagging at me. Thanks so much for your input!

There was a discussion on a FALS Facebook group regarding genetic testing and using blood draw vs. cheek swab. Many were questioning the reliability of cheek swab to produce accurate results- citing the possibility of false negative. I’m going to be tested soon through research at Columbia and...

@Elizjeffords The concern about exercise is one of the reasons that I am now planning to be tested as well. Although Dr. Harms at Columbia as well as the author of the paper both say that it was a small sample size and not conclusive enough to make recommendations at this point.

On my job’s HR site it states that voluntary benefits “are available without having to answer any medical questions (up to the stated limits) …” it also says cost is based on age at issue and whether you use tobacco. But this is just the informational pdf- not sure if there’s additional fine...

I met today with the genetic counselor and neurologist at Columbia for a pre-testing session, as part of the ALS Families Project. I’ve been in the study for a few years now but with undisclosed results. I’ve pretty much decided that I’d rather know at this point, than deal with the uncertainty...

I did attend that presentation. It actually did reassure me to some degree, knowing that continuing to exercise isn’t going to definitively cause earlier onset. Although it is frustrating to see yet another study that is not yet conclusive/ needs replication/ needs to identify many other...

Wow, amazing that exercise in the pool has done that for you! This study seems to suggest a risk in strenuous exercise only for those with FALS as a result of the C9 gene. But it’s great to hear a story of something you did for enjoyment that ended up leading to your improvement!

No, I haven’t found out my status. I’m participating in the ALS family project at Columbia, since my dad was confirmed positive, and would be able to test through them if I wish to, but haven’t yet been able to make that decision. I most likely will test if and when preventative trials do come...

I came across this article regarding exercise and risk of earlier onset for those with C9 gene. My dad had C9 ALS and we are both runners. We trained and ran NYC marathon together in 2004. When he was diagnosed in 2017 we were running together again but shorter distances. My family and I first...

@GXTrex ss1 focuses on the genetic testing and ss2 is the yearly (approximately) assessments if you are a carrier or if you want to skip ss1 and not know your status.

@GXTrex I am supposed to go in once per year, although I believe in the description of the research it says it could be 6 months to a year and half. The meeting with the genetic counselor is part of each visit. This year, it was a zoom visit the day before and basically just an update of my...

I’m participating in the Family Project with Columbia. In fact, I just went for my follow up today, after my initial visit 2 years ago. The c9 gene was confirmed with my father but both myself and my brother did join the study without finding out our status. Yesterday, I had a preliminary zoom...

I am going for my appointment on 3/17 so I can share any new info I get once that is complete. Yes, I assume I’m grandfathered in. When I went for the initial visit 2 years ago, it was in the consent that nobody involved would know the status of the genetic testing, unless I decided at some...

I’m 42, almost 43. For the study, I met with the genetic counselor, had lab work, skin biopsy, breathing test, neuro exam, and EMG. I declined the spinal tap, as this, at least at the time, was optional. They did test for c9 mutation but, at the time, said that participants could choose whether...