Familial ALS and Onset Type

[Le Le]

Hi,
I have been a member on the forum for many years because I have a dear friend with ALS and have found some helpful information here. She is actually doing fairly well and we are blessed to have her in our lives 15 years after her diagnosis.

I am back with a question about another loved one. Her dad died about 30 years ago from ALS. He had limb onset. It was assumed at the time that it was sporadic in nature. Tragically, though, her sister has just been diagnosed with ALS, but hers is bulbar onset. Naturally, my friend is very concerned. The doctors are suspecting that it is FALS and are recommending the other siblings be tested. This is a very new diagnosis and there is a lot of confusion at this point. My question is, with FALS, is it common for people in the same family with the same genetic flaw to have two different types of onset? There is very little detailed information on the internet so I thought I would ask the experts.

 

[Nikki J]

Yes unfortunately it is certainly happens to have different onset. The person who needs to be tested first is the PALS to identify the gene. Please read the sticky for this subforum to find out more. I am sorry about your friend and her sister. FALS does not usually pop up this way but it happens on occasion

 

[Atsugi]

I have to question whether or not to be tested for the gene.
What are you going to do with the information?
What is the information going to do to your insurance?

 

[Nikki J]

That is addressed in the sticky I think Mike. It is an individual choice and there are reasons for and against. It should not be automatic and it should be considered carefully. In England even after receiving counseling there is a mandatory waiting period before you can be tested which I think is a good thing

 

[Le Le]

Thank you, Nikki. I was hoping that I would be able to reassure her that the two types of onset are not consistent with FALS. Guess we just have to hope for the best. Her sister is just beginning this journey and hasn't been tested yet.

If it does turn out to be FALS, I'm sure that I will be back with more questions. Thank you all and God bless you.

 

[nebrhahe53]

I ask this question very respectfully, if a disease like ALS is familial in nature how can the curse not be continued through the generations if genetic testing is not done. Then, at least if you have it, you know you won't pass it on.
Especially now, young people with the mutations stand a fair chance of being able to survive as they wont get the disease for 20 or more years, and there probably will be at least treatments that hold the disease in check, like fir HIV now.

 

[Nikki J]

Until recently there was no genetic testing for the majority of FALS. Now there is, for about 75 percent, but my gene which accounts for 40 percent has onlt had a test available since 2012 and if you do not have a family member currently afflicted it is not reasonable to test well people for all the gene defects.
There are still a lot of FALS families that do not know what to their defect is.
Childbearing is an agonizing issue for us. If you are not FALS it is hard to imagine. There is discussion about an option of IVF only implanting unaffected embryos. When that is available cost will be a huge issue. What I cling to is that gene therapy is being worked on. I believe there will be a cure or effective treatment for our children. I have hope even for my as yet unaffected cousins

 

[hjlindley]

I had the genetic testing, not because anyone in my family had it, but because I was just curious. I did show up to have a defective gene, but I am probably de nova. That means I'm the first one in my family. I chose career over children, so I don't have any dilemmas and that point. I think the hardest part is they are always finding new genes, and I agree with Nikki that the next generation, at least from my genetic defect, will have treatment or cure. I am C9ORF72 positive.

 

[BillH]

Type of onset has varied in my family, as has age of onset (by 20 or more years in different family members). We knew that ALS "ran in the family" but it wasn't until a few years ago that our gene was identified for us (TARDBP). A couple of my sibs have been tested and found out they were negative. Their adult children are happy to know. Another sib is afraid to find out even for the kids sake. I can respect that. My wife knew about the family ALS when she married me, and watched my Mom die from it shortly after we married. I have always been honest with her about my health, the possibilities, and how I'm doing physically. But she agrees that today isn't the day to get tested. Insurance issues, etc. She went through breast cancer some years back... don't want to freak the insurance guy out

We have decided the time for me to be gene tested will be when/if my physical symptoms warrant starting in on what is usually a process of elimination to a diagnosis. Until then we take every day as the blessing it is and leave -knowing- for another time.

(Oh yeah, this is my first post. Hi everyone. Thank you all, I've learned a lot from you, and you all have my prayers in return.)

 

[Atsugi]

Hi Bill.
Wishing you good luck.
--Mike

 

[affected]

Warm welcome Bill.

I just can't imagine being in a FALS family. I don't know what decisions I would choose to make on testing or not. I would like to think I would be like Nikki and be involved in all kinds of research and trials but her courage is incredible and I don't know if I would have that much.

Certainly being tested and coming back clear would make the testing great, especially if you have children. But I know how worried I would be to have to tell my children I tested positive for the gene and them watch them wonder if they should test too.

No easy choices there.

Definitely take every day for the blessing it is!

 

[MaxEidswick]

>Warm welcome Bill.

Ditto that!

 

[BillH]

Thank you Mike and Tillie and Max, I appreciate it. I wasn't intending to hijack the thread, but now that I look back it appears to have been asleep for a couple weeks, but my apologies to all just the same.

 

[affected]

Well Bill now that you have introduced yourself you can talk to us on any thread that you can give input on, or just start a new thread yourself