Parent with C9 ALS

[Motherofthree]

Hi,
My mom recently got diagnosed with ALS and tested positive for the C9 gene. I am going to get tested soon- I am pregnant and due in a couple of months now. But I just need to know either way. I am driving myself crazy thinking that everything is the start of ALS, but I know I am stressed about the whole situation. I have been getting muscle twitching- mainly in my feet and sometimes calves. No real weakness but, my muscles sometimes burn more then normal when going up stairs and squating down. I am obviously anxious about everything going on, and so scared of developing als/ftd. Any words of advice for me? I appreciate anyone taking the time.
Thank you.

 

[lgelb]

As you know, it would be very unusual for you to show symptoms at a much younger age than your mom, who I'm very sorry to hear has been diagnosed. Anxiety about your mom, pregnancy and the whole thing is very understandable. But there is no reason to believe that you have ALS right now.

Have there been other family members with ALS?

As for the future, there is significant hope for definitive treatment for fALS. Let us know if/how we can help you help your mom, and what your testing shows.

Best,
Laurie

 

[Motherofthree]

Thank you so much Laurie. She is trying to get on the current C9 trial.. we are hoping for the best. Her brother passed away of FTD a couple of years ago.. she also had a cousin that passed away of ALS. We believe her father was the carrier, but he died before any neurological symptoms.

 

[Nikki J]

I am sorry about your mom.

Agree with Laurie that you are not describing ALS in yourself

Please think very hard about getting tested yourself. If you have not already done so Diane Lucente at mgh is the person to see.

I am generally of the belief knowing is better than not and chose testing for myself. I know people who deeply regret testing though and of course once done you can’t go back. In the UK there is a mandatory wait of a month after genetic counseling before you can test. It is a good policy I think

I tested because I wanted to participate in studies and there were not the opportunities there are now to do so without knowing. I also planned to make practical changes.

There will be opportunities for you to help with research whether you test or not. At mgh Dr Nicholson has an excellent study called DIALS for known or possible carriers. The FTD clinic also has studies for c9 family members

You may have been told there are plans to test antisense in carriers once they find something that helps c9. To do so they need biomarker data from carriers which you could help provide

In the meantime take care of yourself and your baby to be

 

[Motherofthree]

Thank you Nikki. I met with Diane about a month ago, she is great. I know a positive result on the test would be really hard to hear, but I have decided that I need to know either way. I am trying to get a few things in order and then plan to get tested. I am aware of DIALS as well and plan to participate after I have the baby. I will keep you all posted on results when I receive them. There are 25 years between my mother and I and I am hopeful that by the time I would show symptoms that there will be a treatment. Have you experienced an earlier onset of age or worsening of symptoms within the generations in your family? Again, thank you so much.

 

[Nikki J]

I am glad you are hooked in with Diane and you will love Dr Nicholson.

C9 is theorized to have genetic anticipation by 7 years every two generations.

My MGH doctor has told me not to worry about children ( late teens) but she is also extremely optimistic for my currently asymptomatic cousins. I truly believe you will be fine whatever your result.

If your mom goes to mgh I would think she has been told similar?

My family has been variable in age and presentation but I can’t say there has been a pattern

 

[Nikki J]

Diane could tell you for sure but I thought with DIALS you could learn your genetic status but keep it out of your medical record?

I was tested commercially and it was ok but if you might need life, disability, long term care insurance you should consider

I also have some concerns about pre existing illness protection still for medical insurance. Recent events have shown that it may be wise not to take too much for granted

 

[Motherofthree]

Yes, my mom is at mgh as well, and has also spoken with Diane. I am actually going through the process insurance now, but they were able to dig into the family history with my doctor more then I imagined, and I’m waiting to hear if they will approve me. My mom got tested commercially and I planned to as well, as I have to wait on DIALS, and I would prefer to not wait any longer then I have. You are right about DIALS though, Diane said it stays off your record that way.

The insurance piece is tricky, because you don’t really want to hide anything, as it seems that they could deny the claim down the road if you weren’t up front with them. It looks like that would only happen if you passed away in the first few years of the policy, but I’m not sure on that.

 

[Nikki J]

If you lie then certainly they could refuse to pay. I had insurance before c9 was even discovered so it wasn’t an issue but my memory of the questions is that they asked no family history. And they asked things like medications height weight and doctor visits and reasons. They also had me sign for medical release. There would have been no lie if I had had only had study visits and testing there

However, from what you have said it sounds like whatever will happen testing won’t matter?

I am glad your mom is at mgh. They are the best!

 

[dldugan]

If children are tested and found to have the gene can they do in vitro fertilization and select healthy embryos when they want to have children? If that is possible i would want my children tested. One of my daughter’s children had cystic fibrosis so the process was done to ensure other children did not have CF. It was expensive, but worked.

 

[Nikki J]

Yes embryo selection is done by some. It is expensive and with a dominant gene as c9 and most FALS genes it is absolutely 50/50. Some of my friends have had multiple attempts to get an unsffected embryo and some even gave up. Cf being recessive if you are desperate a carrier status might be acceptable which would give a 75 percent chance of success.

Someone shared on an earlier thread that a childless carrier in the UK can have this done and covered by NHS

 

[Motherofthree]

Thanks again Nikki. I got your message and will be joining that group. I couldn’t figure out how to private message you back but will reach out if needed! I appreciate the support and I hope you are doing well.

 

[affected]

A friend of mine here in Australia did embryo selection successfully.