Advice before testing

Status
Not open for further replies.

WillowJ

Member
Forum Supporter
Joined
Jan 11, 2020
Messages
10
Reason
Lost a loved one
Diagnosis
10/2019
Country
US
State
DC
City
Washington
Hi everyone. My mom was confirmed C9 fALS and now I'm starting to think about testing. I'm a bit of a hypochondriac so it's very tough not knowing and analyzing every muscle quiver, jerky reflex, and every time food goes down the wrong way. I know that I should consult a genetic counselor first, and that's where my questions start. Is there a best place to find a genetic counselor? Should I go through my insurance? I've heard of people getting privately tested but I haven't heard much info about that. And for people who have been tested, do you have any advice or anything that you would have done differently? Thank you all so much in advance! Any and all information and thoughts are appreciated.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
10,466
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
Be very prepared before you start with life insurance disability and long term care if you want those.

my insurance was 100 percent useless for finding a genetic counselor. All they offered were counselors who did general preconception type - cf Tay Sachs those types of things.

you could ask if her clinic recommends someone.

i will say do not test out of fear. You can’t put the genie back in the bottle. I know people who tested and regret it deeply. It has to be right for you. I never regretted my decision though. A common saying in FALS is knowledge is power.

a good piece of advice from a counselor Pretend for 2 weeks you have a positive result. Then pretend for 2 weeks a negative one. Negative results can be difficult too though mostly in a family that has been known FALS and people have positive or even already affected siblings and cousins.

I think we already discussed studies and you can’t right now. There you can be tested off the grid but you have to commit to study visits. There are also genetic counselors who will see you without using insurance or your name for any test

if you choose not to test keep an eye on research. They are hoping for a prevention trial for c9 carriers once something helps PALS. Obviously you would have to be gene positive to participate. We are expecting a sod1 carrier trial very soon
 

WillowJ

Member
Forum Supporter
Joined
Jan 11, 2020
Messages
10
Reason
Lost a loved one
Diagnosis
10/2019
Country
US
State
DC
City
Washington
Thanks Nikki. As always, so grateful for your expertise.

And that's a good suggestion to check with her clinics, hopefully they have some good suggestions or resources on counselors. And for me, I think choosing not to know would actually be my decision out of fear. But I'll definitely try out that suggestion - pretend for a bit positive vs negative result.

My situation has changed a bit since my mom passed in Feb, so I'm starting to think more about studies. I might reach out directly to you to pick your brain a bit more if you wouldn't mind that.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
10,466
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
I am so sorry. I didn’t catch your status change. Please message me when you are ready. There are genetic counselors associated with the studies and with nondisclosure options you can choose not to know ( and no one who sees you for the study knows either)
 
Status
Not open for further replies.
Top