Test results positive for C9

[Bry2k200]

So my sister just received her results regarding the C9 mutation, unfortunately she's a carrier. Is there anything she can do that would be preventative?

 

[Nikki J]

Sorry to hear but there is considerable hope for carriers not yet diagnosed. There is nothing proven to prevent onset at this point. There was some research a year or two ago about exercise history being a risk. when asked to speak with the c9 community though the researchers said they did not have data to make any recommendations. Some doctors do recommend against intense daily exercise. Maybe if she is a triathlete or marathoner she might want to research the topic a bit.

there is a step theory of ALS that it takes 6 life events/ risk factors to get ALS FALS takes fewer supposedly c9 only takes three. The problem is we don’t know what those things are and some may be unavoidable life events

having been in her place ( a known carrier) I would say live her life. Exercise moderately. Eat well. Maintain a healthy but not super thin weight. Follow developments in research because prevention trials are hoped for. I heard someone who is working on c9 crispr say 5 years maybe for beginning trials and after safety trials people with early symptoms and then carriers

as far as meds and supplements there is nothing yet proven.

she might be interested in carrier research. UMiami always has a waiting list but does reimburse travel. PreventALS ( formerly DiALS and Columbia families study) does not reimburse. They are looking to add a West Coast site though

there are facebook groups for FALS and C9 and Iamals has a monthly fals social hour

 

[Bry2k200]

She had breast cancer a few years ago, and I'm concerned that the chemo and radiation will have an impact on whether or not they begin early?

What is a crispr?

My mother's symptoms began when she was 68, and they were extremely slow (she died 2 weeks before her 75th birthday and wasnt diagnosed until she was 73). My sister is 52, is it probable to think that there's a good chance her symptoms will develop around the same time?

Thanks for responding Nikki. If you respond again, I probably won't be able to respond back for awhile because of the securities. Have a great night!

 

[Nikki J]

I don’t think anyone knows about your first question

crispr is gene editing. Google it it is amazing. They have had success with genetic blood diseases like sickle cell. The main issue with c9 appears to be not the editing which they have managed in a petri dish but getting it to the right place. Blood diseases can be treated outside the body and reinfused and others by iv but for neurological diseases it needs to cross the blood brain barrier

age- hard to say. Average age for onset is early 60s for c9 women but it can hit older and younger

this is hard I know but she still may never get symptoms and if she does there is a good chance there will be an answer. She is the same person she was before. Don’t let it ruin your lives

 

[vicmaine]

Hello all! I was diagnosed with ALS through being positive for the C9ORF72 gene. My grandmother had ALS, not sure limb or upper area, but i was tested because of that connection. Noticed foot issue March 2021 when my foot did not raise as it normally would and I tripped on a rock and bloodied my knee, while hiking the trail around Eagle Lake in Acadia National Park. I present now with a floppy R foot that uses an AFO, and now the L foot is becoming floppy and will need use of an AFO. I get tired easily now, can still used my arms and hands, and my breathing is good, so overall, I feel good.

Is your sister having issues with walking or stability? Any indication of ALS besides the gene?

 

[Nikki J]

The diagnostic criteria specifically state genetic status does not factor into diagnosis. The criteria are emg showing acute and chronic denervation in a widespread area and a clinical exam showing both upper and lower motor neuron signs unexplained by other causes which is why there are rule out tests. I expect you had this constellation Vic and if you did not then you should get another opinion. A positive gene test should not diagnose anyone It means they are a carrier of a mutation and at risk

 

[Bry2k200]

No, my sister is still "asymptomatic." She's very concerned, but I've been giving her a lot of info that I get from here that seems to calm her down. I spoke to her about the CRISPR therapy that Nikki mentioned, I told her about AMX0035 and a couple other drugs that are having promising results that are in trial. I also spoke to her about diet and exercise. She's not much into exercising, but she might start. She refuses to quit smoking and I thought I read that smoking could be a link to triggering ALS. Not sure what else I could do for her, hopefully all these positive drugs and treatments will work and get approved. Or, best case scenario she doesn't ever have symptoms.