Husband confirmed C9

[kamsd2025]

Hello. I had been posting in could this be ALS. Yesterday we found out my husbands gene test came back positive for C9 mutation. He is only 48. I read with C9 most people have symptoms or penetration much later in life. We have a young son.

He is being referred to the ALS clinic to see if he can join a trial. We are also supposed to see a genetic counselor. We don't know of anyone in his family that had ALS or FTD. He is estranged from his fathers side. We have started to reach out to his siblings.

The doctor still would not confirm ALS 100% because he doesnt have UMN sign, he only has LMN symptoms (does that mean he will eventually have UMN)?

 

[Nikki J]

C9 is generally not seen before 35. 48 is a little younger than average but unfortunately not unusual.

It is really important to know and if you are telling family to share that c9 penetrance is highly variable. It was originally thought to be close to 100%. This was probably because they were looking at families like mine with multiple cases across multiple generations. What the experts now recommend saying is look at your family history. If you don’t have other relatives affected penetrance for any carriers you find could be as low as 30%

For others reading ALS is still a diagnosis made by clinical exam ,emg and rule outs. The diagnostic criteria specifically say genetic status is not to be considered. There is a proposed criteria change that would substitute a positive genetic test for either lower or upper motor neuron findings but it has not been accepted at this time

 

[kamsd2025]

Thank you, Nikki. The doctor said it could have come from his mother. She died at 53 from liver cancer. She had one sister with many chromosomal abnormalities who passed away in her 50s. She has one living sister and brother, in their early 60s, we dont talk to them, so i am not sure their health status. But there is no way of knowing. His father is estranged but passed away in his late 70s,

I know sometimes C9 is still sporadic.

I am sorry you have experience through FALS. Can i ask, if you saw a genetics counselor, what questions did you ask?

 

[Nikki J]

My insurance did not cover a genetic counselor when I tested. It was early in the discovery of c9 as well so I was up to date on the research of the time I have talked with genetic counselors since as some of the studies had them embedded. I was also in a study with one of the discoverers of C9

The questions people often ask relate to risk of relatives, penetrance and reproductive options. I hope you get a counselor up to date some are stil telling people 100% penetrance

 

[kamsd2025]

We are lucky to live near a really good ALS clinic. Thank you for the information on what questions to consider and ask.