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Wooly

Member
Joined
Aug 23, 2018
Messages
19
Reason
Learn about ALS
Diagnosis
12/2017
Country
UK
State
UK
City
Emerald
Hi,
My husband has the C9orf72 gene mutation and so my children are at risk. They don't want to know. My question is this,

Do I tell the family?

There are sibliings, cousins, niece's and nephews also at risk and totally unaware of this.
They know my husband has bvftd but not that it is genetic or that he is waiting to find out of he has als.
Is it better to know or not?
I am worried about opening a huge can of worms!
I figured out a familial link but nobody else has.
 
Hi
I am c9 as well.

I think that people who are at risk need to be told. They can decide what they want to do as your children have. Sometimes there are practical choices to be made and it is unfair not to tell them. Is your husband the first family member to manifest the c9 spectrum of diseases? If so there is a small chance it is de novo arising in him spontaneously. Your children of course remain at risk but his siblings and their children would not be.

I strongly urge all your children if adults and the siblings to join the Gen-Fi study. It is looking at the genetics of FTD and has multiple sites in the UK and elsewhere. First degree relatives of c9 people can participate without learning their status. The data they are gathering is vital. The plan is to use the information from asymptomatic carriers to test gene therapy when available ( and it is getting close) to prevent the diseases of C9. The study personnel don’t know the status either so there is no fear of finding out by mistake
The lives they save could be their own!
 
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I'm a strong supporter of letting people decide for themselves if the want testing. However, I honestly believe the more people who participate in studies, especially FALS, the better chance we have at finding some sort of "blocking" treatment.

I have an unusual family history and I was tested for a couple of variants at Johns Hopkins. It was decided I'm not FALS.

If I were FALS I would be tested and participate in any study available that might help my relatives.

I would definitely tell his siblings. They might want to be tested because their kids could also be at risk.
 
Thanks,
I'm new to this so still trying to work out the site. My husband's bvftd makes him not care about things he would usually and it's his family. Our kids don't want to know or even be to told if he had the gene so I feel like I'm upsetting the family.
I am very much of the onion that they should know and help with research. Thanks.
 
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If your husband were himself it would be his call but of course it isn’t. If the others have no idea it will be very hard but if you don’t tell them down the road there could be a lot of anger because they would say if I had known I would have done x or not done y. There may be family planning issues for some even
 
Yes I agree.
I'm in a tricky situation because my own kids don't want to know the outcome of the gene test he had. They don't even know we know.
I think I will have to let the siblings know.
Thanks for your advice.I don't know what research is happening or even if it's definately als but I will be doing some checking into it.
 
Sorry I didn't answer your questions. My husband is the first diagnosed family member. His brother has symptoms and a cousin recently died with dementia. I know very little about the family history and it just the fact that I was struggling with my husband. He was repeatedly told it was depression.
Where can I find out about Gen-fi etc?
 
If his brother has worrisome symptoms he needs to be told asap so he can tell his doctor and if there is question on a cousin the family tree for this is that much wider. Not easy but nneds to be done.

If your husband is c9 positive it doesn’t matter whether he also has ALS from the genetic point of view c9 can give different family members different diseases

GENFI | Genetic FTD Initiative My family goes to Addenbrooke’s but as you can see there are different centers
 
Hi Nikki and Kim,

I just wanted to say thankyou. I contacted a Dr Roher n London and our family have been invited to join the Genfi study.

I would not have known about it or where to start and I am truly grateful for your help. They have even offered to see my husband's brother who has been struggling to get a diagnosis for years. Thankyou.
 
That is great. I think you and your family will find comfort and support from the team. My experience in research studies including Genfi at Addenbrooke’s is that researchers and their staff are dedicated and compassionate. They are also happy to talk about what is going on in research.

I am especially happy that your brother in law can benefit from this.

Best of luck
 
I'm so happy and relieved this is happening.

You can probably tell Nikki is our expert here on FALS and genetics. We are all here to support you in any way we can.

Please keep us posted and feel free to stick around and ask questions.
 
I will do.

Thanks again.
 
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