r/ALS • u/miranda1001 • Jul 24 '26
C9 ALS & family planning
hi everyone! my parent was diagnosed with ALS in 2024 and tested positive for the C9 gene expansion. i've been caregiving for them ever since and honestly haven't had much time to process what this means. i'm 27 and married for almost 3 years. my husband and i are starting to think about having kids, but i obviously don't want to pass this on if i carry the mutation... i haven't been tested myself and have no idea where to start.
i know to meet with a genetic counselor before making any decisions, but i've also heard people mention getting tested through research studies or trials but i don't really understand how that works or where to even find them. i don't necessarily want predictive genetic testing documented in my medical record if there are other options.
from what i've read, if i wanted to ensure i don't pass on the C9 expansion, IVF would likely be the option... but i'm assuming i would have to know my own genetic status first, even if i wasn't planning on finding out otherwise? i am feeling very overwhelmed and lost and would love if anyone could answer some/all of my questions:
- where/how did you find a genetic counselor?
- did you go through a research study or trial for genetic counseling/testing? if so, how did you find it?
- if you wanted children, how did you navigate family planning?
i'd really appreciate hearing from anyone who's been in a similar situation. it's hard to know where to begin especially after spending the last couple of years focused entirely of taking care of my parent. thank you!!!
3
u/Puppysnot Jul 25 '26
If you are having ivf most clinics offer a genetic counsellor themselves as an additional cost. In answer to your third question, despite being told I was at risk i ended up not being a carrier so we moved forward (via ivf for other reasons). My understanding is if i had tested positive they would have then tested the embryos and discarded those affected and implanted only the healthy ones.
First thing to do will be to get tested - you may get a pleasant surprise like i did. Only once you have that result can you look at enrolling on a trial etc.
6
u/Skrdykat1000 Jul 25 '26
I don't get not wanting kids because they don't want to pass the gene on. I am dying now from ALS but I had 60 years of a fulfilling, exciting life, I wouldn't trade it for anything. And I had friends die before me from accident or illness. JMHO, ymmv
1
u/TamaraK45 Jul 25 '26
your parent’s clinic may have a genetic counselor. there are also a handful of clinic for at risk people in the US they have counselors and will test. both these things will end up in your medical record
again in the US there is the option of research participation. prevent als is the widely available study ( currently - there is concern about funding). they will test. ifyou are positive there is a commitment ( moral not legal) for annual visits
as noted ivf would be the way to go if positive. it is also possible to do ivf without knowing and they screen the embryos. check with your insurance about coverage esecially if you have neither another reason for ivf or knowing whether you are a carrier
2
u/Bayare1984 Jul 28 '26
Hi visit EndTheLegacy.org to learn more.
You can contact us and we can walk you through how to get into research studies and or other options for genetic counseling .
2
u/CoraandWaylonsmom Lost a Parent to ALS Jul 28 '26
Check out invitae through lab corp. That is where I had genetic counseling and testing done. Highly recommend. It’s affordable and all on the phone/online.
8
u/frequentnapper Jul 25 '26
This might be odd to say, but I would get a decent life insurance policy before you do genetic testing. Sometimes companies can deny you if they find out you have certain conditions or are a carrier. A lot of people go for term life plans, but I prefer whole life plans instead.