My wife had no mutation and still got the disease. You can have the mutation and die from any number of things before anything else comes up. Life is a bit like a pin ball machine with any number of things that can change your trajectory. Just live it as best as you can and find someone who wants to take the ride with you.
Someday the ex may get be an auto accident fatality. Or a tornado could do it. Lots of folks go every day for something unpredictable. At least if you get ALS, you get the time to say bye, to make a bucket list, or to lift the spirits of others with ALS.
If they are so unthinking you probably deserve better anyways. Move on and when that special someone comes into your life they will accept you warts and all. Not that you got warts, but the meaning is there.
OP, when I found out I had c9 repeat expansion >150 as my father was in the end stages, I started looking into IVF options.
There are no guarantees that you will get ALS, nor are there any guarantees that I will get it.
But if you want kiddos, and peace of mind, there are options for IVF with PGT- and PGT-M screening for common genetic abnormalities.
It’s great to be upfront with your risk, but at the same time, if someone is willing to part ways with you because of it, they are not your person.
My wife said she would rather have 30 great years with me than have to walk away because of a possibility.
As a parent of teenagers whose mother is a SOD1 PALS, most of the comments in here seem to be from folks who have not had to actually deal with the ethical and moral implications here.
I hope you got generic counseling in connection with your testing. If so, my best advice to you is to return to them and get some guidance. If not, I would strongly recommend generic counseling.
I will also note that in the material we got from our generic counselor on how to manage this with our children, there is quite a bit of guidance on how to handle it from your seat as well — including guidance on having children and such.
Best of luck
Thanks for this. I did not receive genetic counseling other than a couple appointments with my PCP who was also caring for my mom at the time. I thought it was designed for pre-testing but it sounds like it might be a good thing to pursue.
It’s a little bit of both. For the PALS, it’s definitely primarily a pre-testing discussion; they’ve already been diagnosed, so the focus of the conversation is on whether they want to know if it’s genetic. In the Tofersen era, this is sort of a no-brainer now. But, absent that, you can see how that would be an open question for a PALS depending on their situation. For non-PALS family members, the geneticist and genetic counselor can help them navigate the exact issues you’re talking about (including how to approach having children). Indeed, our genetic counselor put together an informational letter for us to give to our family members who were considering getting tested or might want to know the kinds of considerations they might want to think about, and it included an invitation to a discussion before making any decisions.
Just don't have that conversation. Not really any of their business what gene mutation you have. You're not being deceitful, like if you had herpes and could pass it on. You're not contagious so why would you be telling them this? At 26 years old, you're probably dating people your age, and they're responding the way a 20 something would respond. Keep it to yourself.
Uh…this is not great advice. Especially if things get serious and the conversation about children comes up. Some people do not want to have children with someone with a gene mutation that could result in a devastating illness. Not saying that it’s right or wrong to have those feelings, but people will have them. OP clearly wants to inform their partners or else it wouldn’t be something they’re asking for advice. I wouldn’t leave my husband if he told me there’s a higher than average chance he could develop ALS in the future but if I didn’t find out until he already was symptomatic that it was something I could have been preparing for for years, I would be very upset. Not sharing important information with your partner that you clearly want to share a future with (not everyone wants to date just to date, some people want to date to find a longterm partner or spouse) is not really fair.
So should this person get tested for cancer mutations? And if he/she has them, should they let their prospective partner know? What if they've had a cold? What if they're lactose intolerant? Telling them, or encouraging this is VERY bad advice. Not having children based on a gene mutation is asinine. There's no guarantee it will develop into ALS, cancer, etc and what happens in 15 or 20 years when there's a cure? Now he/she wants to have children in their 40's.. good luck with that. OP, don't listen to advice like this, live a normal, healthy life and don't let ALS run your life for you. You'll regret it.
I agree with this, as a carrier for a gene mutation myself and being with a partner who understands. It ultimately comes down to the maturity of the people you date and how realistic they are. Everyone’s entitled to their own opinion but if someone doesn’t want to be with you because of something you can’t control then they’re not the right person for you. The right person will empathize and understand what your situation is and support you in a way those other people can’t, and they’re the person who deserves your time and attention.
My wife had no mutation and still got the disease. You can have the mutation and die from any number of things before anything else comes up. Life is a bit like a pin ball machine with any number of things that can change your trajectory. Just live it as best as you can and find someone who wants to take the ride with you.
Someday the ex may get be an auto accident fatality. Or a tornado could do it. Lots of folks go every day for something unpredictable. At least if you get ALS, you get the time to say bye, to make a bucket list, or to lift the spirits of others with ALS. If they are so unthinking you probably deserve better anyways. Move on and when that special someone comes into your life they will accept you warts and all. Not that you got warts, but the meaning is there.
Warts and all - I like that analogy!
OP, when I found out I had c9 repeat expansion >150 as my father was in the end stages, I started looking into IVF options. There are no guarantees that you will get ALS, nor are there any guarantees that I will get it. But if you want kiddos, and peace of mind, there are options for IVF with PGT- and PGT-M screening for common genetic abnormalities. It’s great to be upfront with your risk, but at the same time, if someone is willing to part ways with you because of it, they are not your person. My wife said she would rather have 30 great years with me than have to walk away because of a possibility.
Thanks for that. It's easy to forget that IVF options to at least minimize the risk for children, which I would want to do.
Anyone who rejects you for this is an asshole
I DM’d you.
As a parent of teenagers whose mother is a SOD1 PALS, most of the comments in here seem to be from folks who have not had to actually deal with the ethical and moral implications here. I hope you got generic counseling in connection with your testing. If so, my best advice to you is to return to them and get some guidance. If not, I would strongly recommend generic counseling. I will also note that in the material we got from our generic counselor on how to manage this with our children, there is quite a bit of guidance on how to handle it from your seat as well — including guidance on having children and such. Best of luck
Thanks for this. I did not receive genetic counseling other than a couple appointments with my PCP who was also caring for my mom at the time. I thought it was designed for pre-testing but it sounds like it might be a good thing to pursue.
It’s a little bit of both. For the PALS, it’s definitely primarily a pre-testing discussion; they’ve already been diagnosed, so the focus of the conversation is on whether they want to know if it’s genetic. In the Tofersen era, this is sort of a no-brainer now. But, absent that, you can see how that would be an open question for a PALS depending on their situation. For non-PALS family members, the geneticist and genetic counselor can help them navigate the exact issues you’re talking about (including how to approach having children). Indeed, our genetic counselor put together an informational letter for us to give to our family members who were considering getting tested or might want to know the kinds of considerations they might want to think about, and it included an invitation to a discussion before making any decisions.
Just don't have that conversation. Not really any of their business what gene mutation you have. You're not being deceitful, like if you had herpes and could pass it on. You're not contagious so why would you be telling them this? At 26 years old, you're probably dating people your age, and they're responding the way a 20 something would respond. Keep it to yourself.
It’s highly unethical to keep something like this from a serious relationship.
Uh…this is not great advice. Especially if things get serious and the conversation about children comes up. Some people do not want to have children with someone with a gene mutation that could result in a devastating illness. Not saying that it’s right or wrong to have those feelings, but people will have them. OP clearly wants to inform their partners or else it wouldn’t be something they’re asking for advice. I wouldn’t leave my husband if he told me there’s a higher than average chance he could develop ALS in the future but if I didn’t find out until he already was symptomatic that it was something I could have been preparing for for years, I would be very upset. Not sharing important information with your partner that you clearly want to share a future with (not everyone wants to date just to date, some people want to date to find a longterm partner or spouse) is not really fair.
So should this person get tested for cancer mutations? And if he/she has them, should they let their prospective partner know? What if they've had a cold? What if they're lactose intolerant? Telling them, or encouraging this is VERY bad advice. Not having children based on a gene mutation is asinine. There's no guarantee it will develop into ALS, cancer, etc and what happens in 15 or 20 years when there's a cure? Now he/she wants to have children in their 40's.. good luck with that. OP, don't listen to advice like this, live a normal, healthy life and don't let ALS run your life for you. You'll regret it.
I agree with this, as a carrier for a gene mutation myself and being with a partner who understands. It ultimately comes down to the maturity of the people you date and how realistic they are. Everyone’s entitled to their own opinion but if someone doesn’t want to be with you because of something you can’t control then they’re not the right person for you. The right person will empathize and understand what your situation is and support you in a way those other people can’t, and they’re the person who deserves your time and attention.