Possible symptoms and c9orf72

[BethP]

Hi. I’m 41, female, and have the
C9orf72 gene variant rs886063843. I took a DNA test some months ago and just got the results and am very scared. I woke up in a panic once and have been crying at least once a day. I only know half of my family history and on that side have an aunt who is late 70’s that just got diagnosed with dementia, I don’t know what kind. Other than cancer everyone was pretty healthy and old.

Some months ago I was diagnosed with plantar fasciitis on my left foot due to a tight calf muscle. The conservative treatments (shoes/stretches/ice) have only helped a small amount and that was in the beginning.

A couple of months after the plantar fasciitis symptoms started (but before diagnosed) I started getting muscle twitches. They started in my left elbow and are pretty widespread now, mostly close to joints. Notably sometimes when I blink my jaw twitches. My primary was unconcerned and referred me to physical therapy which I didn’t go to because I think neurology is more relevant.

Then, a couple of weeks before I got the DNA test back I felt like ankle on the same side of the plantar fasciitis was getting weak. If I stand on one leg I struggle to lift my left heel. I have a lot of pain from the plantar fasciitis and the resulting gait and it just seems like something is going on. Maybe it’s from favoring one side but I’m so scared now.

And now I have the DNA results and I’m terrified about everything. Google tells me nothing good and I am so scared. I have two young children who need me. I don’t follow up with my podiatrist for a few more weeks. I’m scared and I don’t know what to do. Drs never take me seriously and I need to have this ruled out for my mental health or diagnosed quickly so I can possibly join a trial. How much does this sound lik ALS? What should I do? If it is not ALS what actions should I take regarding the c9 orf72 variant? I could really use some advice.

 

[Nikki J]

Two issues

First It doesn’t really sound like ALS Continue to work with your doctor

Secondly your test sounds like you did 23andme or similar. That snp does not mean that you are definitely c9orf72 positive. You should find a genetic counselor who specializes in als and discuss. They might order an actual c9orf72 test. Be sure to discuss the implications of formal genetic testing as genetic discrimination is real IF ( big if) you were to be positive.

I understand you don’t know half your family history but from what you do know you have no ALS history. They have discovered that penetrance ( the chance of a carrier getting sick) varies widely. For those with a strong family history ( multiple generations, multiple members affected) penetrance seems quite high and when c9 was discovered in 2011 we were the families they knew about ). It turns out that people without such a family history have much lower penetrance. Presumably there are undiscovered genetic factors that drive this. So to summarize, I doubt you really have a c9 expansion mutation but if you do you are only about 30% likely to ever get ALS in your entire life.

 

[BethP]

Thank you for responding so quickly. I used sequencing.com for the genetic test and I am almost certain I have the gene.

From their website guide to column definitions:

Your Status - A calculation that takes into account a variant's Classification and whether Your Data contains the variant's Risk version.

And PDPC:

From what I can tell they don’t believe enough studies have been done to be “certain” of the significance.

The 30% statistic is still not great news but it gives me more hope than what I read of 90% and it is reassuring that my symptoms do not sound as if they would indicate ALS at this point in time.

I wish I never got the test I would rather have never known. I didn’t know much about ALS just a week ago and I pray that better treatment and cure will be developed soon. If I am indeed a carrier I still would like to participate in research to help.

 

[Nikki J]

As I said this is NOT a c9 orf72 test. C9 Orf72 repeat expansion would not say unknown inheritance pattern would not say possible risk and would not say may be associated.

The test for the actual mutation comes back looking like this

As you can see it clearly says autosomal dominant and pathogenic whereas your report is vague because it isn’t certain at all what your variant means. You just have something slightly different in the same position as the toxic repeat happens. That is all c9 orf72 means there. Chromosome 9 open reading frame 72 See a geneticist who can order a real test.

 

[lgelb]

Deferring PT because you don't think it's relevant makes zero sense. How can crying every day be preferable to trying something that could actually help?

PF is seen/helped a lot in PT. When conservative treatments fail, you move on to the next step. My best advice is that you do just that.