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Momofone

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Hi there,
My family has been burdened with C9 - we’ve lost 6 amazing people in 2 generations, so far, including my mom, Godfather, and Gramma. I’ve struggled with anxiety over this disease for over a decade now. The anxiety presents itself in the form of symptoms and I trick myself into believing that I have ALS. I’m aware of this now, and know so much about the symptoms of ALS, but with each “episode” of anxiety, new and different symptoms presents, showing how powerful anxiety truly is.

I’m leaning towards genetic testing at this point. I feel the uncertainty of it all is wearing on me. How do I know when the time is right?
I just got back from speaking with a counsellor who thinks knowing will empower me. That knowledge is power. I’m just really torn and know I have to make this decision on my own, but value your input too.
Thoughts? What would you/have you done in my situation?
 

Nikki J

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I tested when asymptomatic. I waited 6 months after c9 was confirmed as our mutation even though i always intended to test.

You need to be super sure. Once you find out you can’t take it back.

I heard one counselor suggest living a week or 2 pretending you got a positive result and then switch and pretend it was negative

Whatever your result you will have feelings to deal with. People who are negative often struggle with survivor guilt.

It is true that some people say knowledge is power. I strongly suspected I was positive and at the time I tested there were not research opportunities if you did not have a positive test. I very much wanted to participate in research. Now you can do so and not know your status.

Most of the people I know who tested are glad they did but a few bitterly regret it.

I do think that you need to be able to approach the test fairly positively to avoid regret- from a position of strength rather than fear.

No one wants to be positive but if you are already afraid and anxious with every twitch it will make it worse. On the other hand sometimes knowing helps you plan long term and live more fully.

You need to be honest with yourself as to whether it will make your life better or worse

Are you participating in gen fi or any other study?
 

MarieLaure

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Your decision might also depend on whether you have children or think of starting a family.
It seems worth discussing with loved ones.
In any case the best decision for you is the one you make
 

Vincent

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If there is still nothing they can do about it, why know?
Vincent
 

Nikki J

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C9orf72 has a cliinical trial. They need biomarkers for an asymptomatic trial once they have something that works. There are studies where you do not have to know but the known carriers are able to do more

If family planning is an issue they can do embryo selection

Some people do better knowing.
 

Ken15

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CALS
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SC
My PALS is C9. We have 4 adult children and 7 grandchildren.

All of the children (ages 35-41) are asymptomatic and have had blood drawn for biomarker study at the Mayo Clinic. One has had spinal fluid drawn and 2 others plan to; all with the understanding that they will not be told if they have the mutation or not.

Both the MC and Johns Hopkins have offered free genetic counseling and testing. I have strongly advised them to get the genetic counseling before making a decision on testing.

One other thing to consider is insurance. A federal law - GINA - protects against genetic discrimination for health insurance. However, no such protection exists for life, disability and long-term care insurance. Thus, if you do get tested and test positive, you might not qualify for these latter insurances. If you plan on taking any of these policies in the future, think very carefully about getting tested.

Good luck; it definitely is a personal decision.

Ken
 

lgelb

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Ken, you raise some important issues. For what it's worth, I wouldn't use insurance eligibility as a reason to know or not know, as even the act of testing, through billing, payment, chart notes, etc. could find its way into the underwriting database. So could discussing testing, e.g. with a genetic counselor or doc. So could the data on your affected family members.

I worked in the insurance industry, so this is just realism. They really can reject you for any reason within the offer terms.

My tip for the day is, if you get a new job, join an association with benefits, etc. sign up for any non-underwritten coverage you're interested in as soon as you join because if you pass it up during your first opportunity, once it becomes underwritten coverage, you may not have another chance.

Best,
Laurie
 

Momofone

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Lost a loved one
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Ontario
I already have a child, and this decision has nothing to do with embryo selection. I’ve been in deep discussions with my husband about this already. I have been in contact with all my supports and I am still weighing out my options, but came to you all, who have more knowledge with the disease, to get your personal opinions.

I am not involved in any studies, but would love to be. I, alongside a few other family members, donated blood to the ALS clinic at Sunnybrook (in Toronto, On) when we weren’t aware of our mutation, which helped isolate the gene for our family.
I would love to help in any way I can. Do you have any info to share with me Nikki? Also, I like the idea you shared about pretending to test positive for a week, and then switching to a negative. It’s just so hard to imaging all the feelings. :(

I don’t have life insurance. I was quoted extremely high when they investigated my family history a while ago and I gave up on it. I’m self employed, but will have to look into my husbands health insurance policies.

Thanks everyone.
 

Nikki J

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Here is a link to genfi GENFI | Genetic FTD Initiative
You can participate whether you know or not your status if you are a first degree relative in a c9 family. It is ftd oriented and really excellent

If you are prepared to travel I am pretty sure you can do studies at Mass General even though not US citizen. I can message you info if you wish. One study will test you and you can choose whether to know results. If you do their ftd study they help with expenses. The ALS one does not but if you do both about 1/2 your ALS visits could be combined with the ftd ones.

If you are positive UMiami has a carrier study , accepts Canadians and pays expenses
 
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