Do you want to know?

[Nikki J]

We get dna from both our parents. The copy I got from my dad who did not have ALS had only 2 repeats which is normal and healthy. From my mom who had ALS I got the other part which has more than 44 repeats ( probably thousands ) which is bad. The multiple repeats essentially clog up my body chemistry ( RNA) and give me ALS. Ps the only way I know which came from where is deduction. No ALS on my dad's side. Multiple people on my mom's. Hope this is clearer? Feel free to pm if you need to

 

[MaxEidswick]

Nikki make sure you check out ted on l-serine ...

 

[Nikki J]

Thanks Max working with my neuro on optimum combo to take!

 

[MaxEidswick]

>Thanks Max working with my neuro on optimum combo to take!

When you find out Nikki let me know

 

[GregK]

>Thanks Max working with my neuro on optimum combo to take!

When you find out Nikki let me know

Let us ALL know!

(I just ordered L-Serine and ALC from Amazon...)

 

[MaxEidswick]

>I just ordered L-Serine and ALC from Amazon

I just got my L-serine from Amazon. What is ALC?

 

[Nikki J]

Guys I will certainly share anything that might remotely help. My neuro says ( correctly I am sure) ALS is a number of different diseases. That is probably especially true of me ( FALS) versus you who are so called sporadic. There are some things that might help you and not me and vice versa. But anything I learn will share. She is waiting for test results to recommend her plan

 

[mupslee]

Mike -

I am very sorry to hear you are dealing with this. Our family found out in February that we carry C9 as well. My oldest sister chose to test as soon as we knew because she has older children who are planning to start families right away. She felt they needed to know. I don't know if the knowledge would have changed their plans or not. She fortunately tested negative.

My children are a pre-teen and teen, and they quickly put two and two together (my dad and sister) and realized it is genetic. The older (who is usually quite a worrier) is blocking it from her mind and going on with life. The younger one got quite clingy (mostly for worry about me), but that has gotten better over time. The genetic counselor told me the kids could not be tested until they are 18. I have told my kids that I will test before they have kids or when they turn 18 if they want me to. I had my kids late in life, so it is unlikely that we would not already know by then anyway.

If my kids had not figured it out, I would probably not have told them until they are adults, but then I would have told them. I think it really depends on your kids. They've obviously been through a lot already. I do think that perhaps an adult maturity makes it easier to handle such news. And my hope is that by the time our kids are old enough to be affected, there will be something in place to help them.

My heart goes out to you.

 

[Atsugi]

I have told my kids that I will test before they have kids or when they turn 18 if they want me to. ... If my kids had not figured it out, I would probably not have told them until they are adults, but then I would have told them.

Thanks to all. Lots of decisions and plans to make.

 

[Daling]

No. I would not inform my children for the simple reason that environmental factors may prevent the disease. Besides, there might be a cure by the time they develop the disease, IF they do. Let them enjoy life. They can't do anything consciously to prevent it anyway.

 

[Nikki J]

As someone who is FALS but did not know it when I was making life choices( education,career and family) i wish I had known the risk. Could it change my health status? No, not with current knowledge. But aside from the obvious question of children, knowing you have a very strong possibility of not seeing 50 is different than expecting to live to almost 100 ( the norm on both sides of my family before ALS appeared in my mom's generation.) I chose a career path with very long educational preparation not expecting to have it suddenly cut short. Tell a 12 year old? Not if you can avoid it but the closer they get to adulthood the grayer the area

 

[Atsugi]

I read somewhere, I think, that the penetrance of C9 ALS is close to 100%, however, no other relatives have either FTD or ALS. Those two facts don't jive. My PALS had 4 sisters and 1 brother and 2 parents, all known healthy. They're medical folk, so I think they'd have told me if there was previous ALS in the family.

Could my kids successfully carry the C9 mutation, yet never get ALS?

 

[Nikki J]

Different people say different things. The European c9 people are being told by their neuros 100 percent penetrance. Bryan Traynor at NIH who led one of the teams who discovered c9 told me personally it was not fully penetrant and I know he has said the same to other c9 people. I found stats from 85 to 96 penetrant. Not supposed to occur before 35 50 percent by 57 for males, 62 for females. The kicker with c9 is that it does show up in apparent SALS. ( incomplete penetrance? Spontaneous mutation?).
We did not have a history before my mom and her siblings clearly a parent passed it along with 4 affected but my grandparents died of other causes at 92 and 79. I think my grandfather's wartime exposure to toxins set it off but that is only my guess !

 

[Atsugi]

I'm going to call Mayo and get genetic counseling. Maybe there is hope for my kids.

When I see how much fun my kids have every day, laughing and playing and hugging each other, I can tell they truly love each other. I told them years ago that they needed to be nice to each other, because one day they would only have each other to rely on. They really enjoy each other and share friends on double-dates all the time. They each are pursuing careers in engineering.

I'm not going to drop the ALS bomb on them and thus destroy their happiness and their faith in the future.

 

[affected]

oh Mike, I just can't imagine what it is like for you to know this.

I would think, for me personally, that I would want to tell the kids and allow them to be tested if they wish, at some point. When is a bit hazy for me.

I so understand there is a very difficult place between wanting blissful ignorance and do they have a right to choose to test.

Nikki for example has been able to take part in so many trials and studies for years that may prove to be invaluable because she knew her status. Of course with so many PALS in her own family that she knew it was more obvious than it may be to your children.

I just feel so sad to think that after all you have done for Kris and your kids that you are now carrying this. I'm so glad that you have at least shared it here and hope you can find the decision that you feel is best for your own family and situation.