Genetic testing

[Loulou22]

Hello all,
After being diagnosed at 41, 2 years ago, my neuro has only recently suggested that genetic testing might be a good idea. I’m really on the fence about it. I have no family history of MND, but my mum did experience some neurological symptoms for a period of a few years, which have since resolved. This was eventually put down to ‘benign’ MS.
My grandmother was adopted so there is a little piece of the puzzle missing, but none of her descendants, apart from me of course; have been diagnosed.
I know there are a number of genes ‘linked’ to MND, but I wonder what is the use of finding out if it doesn’t change the outcome?
The anxiety of potentially passing this on to my daughter is overwhelming, and the potential impact on the rest of my family is hard to wrap my head around.
Has anyone had it done and regretted it? Or felt some kind of relief having done it?
Any experiences or advice welcome xx

 

[Nikki J]

There is treatment for one mutation sod1. Your odds of having that with no history are 1-2%. There is a trial for fus that is very promising - not sure if you could access.

Otherwise I believe genetic testing to be a gift to your family. Relatives of PALS worry a lot about FALS. We see it here all the time. If you test negative it gives them peace of mind if they do find something it gives them power. They can test or not, they can use ivf to have unaffected children if they are positive and they can plan. Finally prevention is coming for genetic als. Sod1 has a trial right now and as they find treatments for other mutations more will be added. When they figure out how to deliver crispr to the brain I think it will be comparatively easy to prevent FALS in carriers

 

[ReginaS]

I believe it is also possible to bank a sample of your blood if you are not ready to test right now so that it is available to relatives in the future if they want to test. That is also helpful for a time in the future when more genetic markers related to ALS are known.

 

[DMP]

I understand the anxiety about being tested we have familial motor neurone disease/ALS. For years I preferred not to know. I would flag one positive to knowing is the potential if it is genetic for future generations to have IVF to conceive a child who does not carry the gene. It also sounds like yours could be sporadic perhaps. All the best with all this so much to consider when you are newly diagnosed and need compassion.

 

[Vivienne47]

I had no family history but asked for a gene test. To my shock and surprise it came back positive fot C9orf72. The bad news was offset by opening up a new avenue of off-label drugs with proven potential to work directly on the toxic pathway triggered by the mutation, including metformin and acamprosate, both in, or approaching trials and very cheap to buy. The genetic approaches are moving rapidly so my family members who have the gene will almost certainly have access to a cure by the time they get symptoms. They can also make lifestyle choices - intermittent fasting is a very bad idea if you have this mutation

 

[santimo]

While I agree with everyone's points regarding the pros for testing, my opinion is that there should be an accompanying process to this. I was tested today and honestly I'm very afraid of a positive result. I have a kid and a 30 yo sister. The idea of sharing the gene with my sister or having passed it to my son is killing me. It would feel like tragedy over tragedy and a huge additional weight for my family and caregivers.

 

[Nikki J]

Accompanying process? Anyone having genetic testing should have access to genetic counseling to talk about these issues. I am sorry if you did not. While the news would be hard ultimately you would be giving them power and as said above prevention is getting close. IF you have a mutation knowing there is risk would allow your family to access that prevention. If they don’t know they would be more at risk

 

[lgelb]

Totally agree with testing, especially since prevention is moving toward reality. And you can still get genetic counseling in the context of learning the results of your test today. Though I don't see anyone based in Argentina, you can see contact information for SA genetic counselors, who often also work virtually, at Directorio de Servicios Genéticos

For the flip side: my husband was born with Marfan, a 100% genetic disorder. Due to his dad's leaving when he was an infant, only an incomplete genetic history has been available to his siblings. However, even that partial history has simplified some timely medical issues with his half-sibs/their kids, and of course with our son.

This history also provided researchers with valuable context for his contributions of samples to relevant biorepositories and of his brain and other body parts after death. When you can link genetic history with phenotype and biosamples, you can really make progress on diseases with any genetic cases, the kind of data that have brought us as far as we have come with familial ALS and many other diseases.

You can cut and paste stories like this the world over. Knowledge can be hard to bear, but ignorance, especially when it leads to preventable harm, is worse.

 

[santimo]

As I said, I understand theoretically the potential benefits, mostly because I know about genetics and because I took the time to research about FALS. I still wished I had more context and guidance as my decision to test, as suggested by my neurologist, was based on the long shot that if it is sod1 i might get tofersen. Most close people wouldn't even consider this possibility and just assumed this was sporadic, given that there is still nothing concrete in terms of prevention, for them, ignorance would be bliss, at least for the next couple of years while we leave through my disease.
I don't think we have established here in my country the role of genetic counselors, at least it's not common. The only people involved was my neurologist, and the private clinic that will test me, but I only interacted with administrative staff and the nurse who extracted my sample.

 

[lgelb]

No, there are not a lot of genetic counselors on your continent. In time, I am sure there will be more. Just for anyone in an area where they are not common, that is now a service increasingly addressed by telehealth.

As we noted, it's not just prevention today, but informing other life decisions like if/how to add kids to the family.

 

[KimT]

I got every genetic test my doctor would order. I was really hoping for SOD1, but I didn't have it. I do have a friend from my hometown who is not FALS test positive for SOD1. She was in the trial and believes she got the drug. Very little progression in the past three years. She is still walking and traveling without issues. She has been diagnosed for six years.

I not only got ALS variant testing but muscle disease testing, connective tissue, autoimmune, and a bunch of other tests to figure out why I was in so much pain. Mayo found out that I had Ehlers-Danlos Disease in addition to ALS and that explained why my ligaments and tendons had so much wrong with them on MRI.