This Disease is Familial in my family and I have the gene

[Jynda]

Hi there
My grandfather (70) , his sister(49), his two sons (65) (one being my father at 48) all died from MND.
His other son, and daughter died from FTD

I had the expansion dna test, and I have the gene that causes MND, and given 80-90% odds of getting this.

My two sisters are on the slow but true path to getting tested, and my son, who now has 50% odds, is also intending to be tested.

I just want to know if anyone else has had so many in their family pass away and have this gene and no symptoms yet.

 

[Nikki J]

Hi
Sorry about your family. When you say the gene and mention expansion I think you mean c9orf72? As you probably know it is not the only FALS gene but it is most common.

My family has lost multiple members to c9 too. I have a cousin who is gene positive with no symptoms and the rest of my at risk cousins have chosen not to know. I know people on FB who are asymptomatic carriers too. Sadly, the family history is not unusual for FALS. My neurologist looked at my family history and just nodded

There is a ton of research being done on C9 and the first gene blocking trials are expected in a year or less. That is antisense therapy but CrispR therapy is being worked on as well.

there is now a biomarker for c9 that is found in the spinal fluid of carriers whether symptomatic or not. They don't know yet but are hoping that it can be used to see if treatments work and might eventually allow gene blocking therapy to be tested on asymptomatic carriers. If that works people could be treated before the first symptom.

 

[danspecht]

My wife was devastated when she found out she had the C9orf72 expansion gene. That was 3 months ago, and she has made her peace with it. Her father and grandfather both died of ALS, and her sister, who currently has FTD, is also positive for the gene. The mean age of onset for ALS/FTD in the C9orf72 positive is 58+/- 8 years, but is generally within 2-3 years of the age at which relatives got it, and they got it at about her age. It sucks, but before we got the test results, she was obsesses with the disease, so maybe we're better off knowing.

 

[VirtualDiana]

Dear Jinda,

I definitely feel your pain. I have also tested positive for the C9ORF72 mutation, and yet have not developed any symptoms myself. My grandfather and father died of ALS around my age and my sister is in the later stages of FTD-ALS. Thus I anticipate symptoms within the next 2-3 years, and have suffered many depressive moments. I've recently begun to feel a little better thanks to Nikki, who recommended I sign up for several clinical trials. There's one in Florida specifically for folks at high risk for ALS, but not yet symptomatic. I think it has lifted my spirits to know I can provide this data to a clinical trial that few others can. A mission!

Yours, Diana