Do you want to know?

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Atsugi

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My PALS died. Then we discovered her DNA had the C9orf72 mutation. The Mayo has informed me that our children—teens—each have a 50/50 chance of carrying the defective gene.

Do I tell them? When?

This means to me that in about 15 to 25 years, when I’m 75 or 85 years old, I’ll have one or both children paralyzed and dying. So what should I do now to prepare? What to do?

Mike
 
oh my God, Mike this is terrible news.
 
I am sorry about this news on so many levels. So far I have purposely not had the genetic testing so my children would not have to know if they are at risk. I personally don't think I would have wanted to know in my 20s that this was in my future. This is such a tough question will have to give it more thought,though.
Kay
 
I'm really sorry you have yet another burden to deal with.

As far as your questions, every one has opinions and the only one that matters is yours. I had two cousins die of ALS. Now I have it. Doctors wanted to test me and I figured the more info the medical community has the better the chance they have of figuring this disease out, so I said sure. I told my kids (all in their thirties) that I was getting the genetic tests done and asked if they wanted to know the results. My wife didn't want them to know but all three of my daughters said they absolutely did want to know. Not sure I'd lay that kind of info on a teenager, but down the road they may well want to know and be tested themselves. Might affect important decisions they will have to make about their lives and families.

I don't think just having a genetic link is all their is to ALS. I think their is an environmental trigger, thus the connection ALS has with the military and some sports. While I haven't seen statistics on the disease (and I'd love to see the numbers from the ALS Registry Surveys), it seems to me that if it's a fifty fifty chance of having the mutated gene and everyone with the mutated gene got ALS, there would be more cases of Familial ALS than there are. Gives me some hope that one, none of my kids or grandkids will have a mutated gene or that if they do, that they still won't come down with the disease.

I believe everyone here will be praying first for your children and then for you and your pain dealing with it.

Best of luck.

BK
 
BK I think the people who know they are FALS but do not know their gene have a much harder time as they do not have the choice to be tested so it is great you chose to test!
Depending on the gene and the specialist you talk to penetrance ( the percentage of people with the gene who get ALS) is very high. My c9 is generally quoted at 96 percent though my European friends are told by their neuro 100 percent. Sod1 is very close to 100 percent. The question of how to delay onset vs triggers is being studied. Neurologist Michael Benatar of Miami has been studying gene positive asymptomatic people for years. I have been in the study and they look at everything where you lived, worked,what you ate how you exercised literally hours of questions. My current neuro says all gene positive people should take 2000 of vitamin e daily although since it has side effects people shpuld check with their physicians first
 
>My PALS died. Then we discovered her DNA had the C9orf72 mutation. The Mayo has informed me that our children—teens—each have a 50/50 chance of carrying the defective gene.

Mike, this is the total shits!


>Do I tell them? When?

you asked, so I say NO. Each has a 50/50 chance of not carrying the gene.


>when I’m 75 or 85 years old, I’ll have one or both children paralyzed and dying. So what should I do now to prepare? What to do?

that is an altogether different question. If your financial situation permits, – there are additional life insurance and annuity for them to help.
 
I just lost a whole post because of this damn dictation machine:-(…

Why I was saying was that you have other options too… At the young age of 60 you still have the many moneymaking months :)… This is obviously not the object optional course direction but as we say it is what is :)
 
Mike, I do think you need to tell them at least before they marry and have children. I think if I was a fals, I would not have had children. (no reflection on anyone else's decisions here...it is just my opinion). Adoption and surrogates are good options for that. but you know your kids, and hopefully there will be a cure at least for fals before they reach that point.

More life insurance for you is a good idea--and also they should think about getting long term care insurance in their 20's, maybe before they were to be actually tested (if they choose that).

I am so so sorry you have to bear this burden. can I ask, why did you decide to have Kris tested? does she have any other members of her family with ALS?

B
 
can I ask, why did you decide to have Kris tested? does she have any other members of her family with ALS?
B

She was part of a study, and they found the gene during the study.
 
In 1993, when the first news came out they could identify a gene with ALS, my mom wanted me to get tested. At that point I was 7 months pregnant with my second child. I told her no, that it was too late because I had already had children, and that I didn't want to know if I had the gene.

Fast forward to September 19, when I heard the words, "I'm sorry, but you do have ALS." They asked me if I wanted genetic testing. We said no, but I can't help thinking about it. Maybe it would be wise for me and the kids to have testing. That way they know before having children. I see it as a way to stop this disease in my family line, rather than doom the future generations that come. But then I think back to the choice I made in 1993. Would I want to give up all the years that I had my children in my life? So what right do I have to cheat my own children of that joy? So I haven't had the testing done and never will. But I've told my kids if they want it, I will pay for it.
 
Tracy you have every right to decide however you want. Forgive me for pointing this out. It sounds like you do not know your family gene?If that is true if your children ( who are young adults?) might ever want to test it is impractical if they do not know what gene they are looking for. There are as I am sure you know now quite a number of genes identified but not all are known. So if an asymptomatic person gets tested for everything ( paying many thousands of dollars which insurance usually does not cover because they are asymptomatic) and test negative for everything that does not give them full assurance. They do not know if they are safe having escaped the family gene or if the family gene is among the still unidentified.
 
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Oh Mike, how unbelievably cruel.

Yes, life and long term care insurance policies now are a must. Should they know? Not yet...teenage years are hard enough without that knowledge, but when they are more mature they should have the option of knowing.

Fifteen to 25 years is a long time given the research being done now. While we are all hopeful that a cure will come in time for our PALS, the chances are much greater that it will be available in time if your children need it. I write this wondering what we will learn when my husbands results come back and what it could mean to our children, and my heart breaks for you. Hold on to the 50 percent chance that your children will not need that cure, and have faith that it will be there if they need it.
 
One of the good things in my journey is that I have no children or siblings. But I think did have kids I would tell them before they decided to have children. It might help to talk to a genetic counselor. I'm a little confused because I did not think that gene was autosomal dominant, unlike SOD1 and SOD2. It is incredibly cruel for unity even have to make this decision. And the good news is that gene may have a cure before the rest of us if the Mass General keeps going up to speed they're going.
 
C9 is indeed autosomal dominant. Unfortunately. My genetic testing reports both strands. Anything under 20 is normal 20 to 30 is borderline. And they just report 44 or greater on the high end.I am greater than 44 and 2. The greater than 44 was all needed to give me ALS.
 
C9 is indeed autosomal dominant. Unfortunately. My genetic testing reports both strands. Anything under 20 is normal 20 to 30 is borderline. And they just report 44 or greater on the high end.I am greater than 44 and 2. The greater than 44 was all needed to give me ALS.


That seems important. But I have NO idea what you just said.
 
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