October 29, 2020 at 9:21 am #16661AmandaKeymaster
Between 5% and 10% of ALS is considered to be genetically linked or familial ALS. Several genes associated with ALS have been identified or at least mapped to a specific region of a chromosome. The most common genetic mutations are in SOD1 and C9ORF genes. If one of your parents had the mutated gene, then you have a 50% chance of inheriting the gene.
How do you feel about genetic testing for a mutation linked to ALS. If you found out you also had the mutated gene (with no symptoms) would it change anything for you?
If you have been tested what went into your decision to find out?
October 29, 2020 at 4:16 pm #16666BillParticipant
I did enroll in a study that ran my dna. The tests discovered no known mutation even though I have do family history of MND. Sometimes they can not identify it. I did it to be able let my kids know as well as help with potential treatments if they come. My kids told me they would want to know.
October 29, 2020 at 6:42 pm #16668Janette Anne McIntoshParticipant
I did 23 and me but it didn’t definitely come back that I had high risk although it showed trending upward. It was bang on with high risk of colon cancer which I had. I don’t think I’d want to know.
October 30, 2020 at 1:11 pm #16680Romy HParticipant
When my twin sister relented and actually got a diagnosis, she refused to have genetic testing. She was self treating with a homeopath. Our Dad did die of something neurological but it was so different and he was not diagnosed. Then my twin misplaced her medical power of attorney so his tissues were not tested as the DR had wanted. I tried very hard to get this done but there was not time to get a new copy and the nursing home lost their copy. I have not had symptoms yet but have confirmed that we are Fraternal twins, this said it doesn’t mean I don’t have some risk. We have not seen it in our family before but it was a huge wake up call. I have four adult kids and 3 grandkids and feel I owe it to them. I am also offering to get tested for research of twins having ALS. Its a personal decision but I want to do it for our kids. She had 2 kids of her own and they wanted to know. Hair was saved from a hair brush of hers so that is all we have to work with and I am pursuing this now. She did get tested for ALS at the leading center for it at UW. I think with genetic testing, it feel it will help eventually with the cure along with faster diagnosis with treatment. I read about the research needed to get as many genetic tests done as possible to identify the markers. My twin and I looked identical for the most part so we shared alot of gene matches. This said. testing both of our samples could pull up a marker she had that I don’t perhaps and so our hair samples will be sent in if they want them. Its worth doing for me to help others and reassure my own family. I am 56 and in perfect health right now but there are no guarantees in this life. My twin was walking just fine in Sept 2019 and passed away June 18th, 2020.
October 31, 2020 at 12:17 pm #16688
As my mother died from ALS/MND, it was a no-brainer for me. And so I know I carry the C9orf72 gene mutation. One son is awaiting results and the other waiting for blood test. They have 50/50 chance of carrying the mutation and, if they do, 80% chance of developing ALS & 20% FTD. I can’t understand why my sister, a medical doctor, doesn’t want to know. Thankfully her husband, also a doctor, told their three kids, one of whom is planning to start a family.
I’ve researched family tree: my mother had ALS; her sister and her son FTD; my gran FTD. Now looking wider to see who else might be affected. Then decide whether to inform them. Seems logical to me to inform. What do others think?
November 3, 2020 at 3:18 pm #16709Meredith ReekersParticipant
I agree David. My family history is similar to yours with c9orf72 ALS/FTD.
I’m about to send in my sample for testing. The only hesitation is potential discrimination by non-healthcare insurers (e.g. life insurance, long term care insurance etc). But in case y’all don’t know, the Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that protects individuals from genetic discrimination in health insurance and employment. I am, for one, paying for my genetic test out of pocket because I don’t want my insurance company involved.
December 17, 2020 at 7:23 am #17201
Today my 28 year old son got his results and he carries multiple repeats on the c9orf72 gene.
So, from my grandmother to two of her three daughters (one being my mother), to me, and from me to at least one son – the other 30 year old still pondering when to get tested (note: not whether).
An interesting Christmas with my sister and family coming up next week. She’s a doctor and decided not to be tested. Her husband, also a doctor, told their three adult children about my diagnosis.
I ask: is it justifiable and fair that my sister leave the possibility that she might not carry the gene expansion for her children each to find out through genetic testing? In my view, a more just and equitable solution is for my sister to have the test. As I understand it, if she does not carry what is deemed a pathological number of repeats, then her offspring won’t.
Am I right, both factually and ethically?
Interestingly, my consultant confirmed that several genetic therapies/cures are in clinical trials.
January 7, 2021 at 3:15 pm #17392Angelique PrinsParticipant
My family had familiar ALS – FUS gene. It is coming from my father’s site and caused allready a lot of sickness and dead :(. My father, 2 sisters and 1 brother died on ALS, so only 1 one sister of him has no symptoms. Some of there clildren also died on ALS allready. After that I descided to test myself and unfortunately I also have the mutation but luckily no symptoms yet. With that information I descided to join research programms in America and Belgium to helping find a cure. (Iam living in the Netherlands) Hopefully it will come soon, I have a lot of faith in the medicin ASO. The rest of my family will not test for the results. I
February 1, 2021 at 3:15 pm #17623KikiParticipant
At first thank you for providing this forum and helpful advice/studies. I am just wondering how people get tested as the whole ALS topic is quite new to me.
We have FDT ( granddad, mom) in our family history but no ALS. At the moment I have strong symptoms but no confirmed atrophy. I’m quite young (29yo). Should I get tested for the C9 gene? Is it done by a neuro or is it a whole genome sequencing paid by oneself?
Sry for asking all these questions. I just don’t know what to do meanwhile as my next Emg is in June, so it’s quite a long time…
May 19, 2021 at 2:39 am #18939
Hi Kiki, I am 52yo Bulgarian with strong and fast advancing symptoms started approx. on 1 Jan 2021. I am pretty sure that the developed EU countries offer gene testing payed by the healthcare system. I was working in Belgium (currently on sick leave) and still have active med insurance there. I was offered a gene testing in AZ Brussel, blood samples were taken, but 1 day later the gene professor called me that testing will be suspended as I have no final diagnose. The MND doctors from UZ Leuven called him to stop my test as diagnose was not established. I also found a private gene lab in Germany called GeCaT. I sent my blood there, but this testing is paid. 85 euro for C9ofr72 and 1300 euro for another 20 ALS related genes in a 2=step approach. This testing is also relatively slow, each one taking 2 months (this is what I was said). As you are young and a native german citizen I am almost sure you will be offered a free gene test in Germany.
May 18, 2021 at 10:03 pm #18938
has anyone else been a “sporadic” ALS case, but then learn that they have the C9 gene mutation? This just happened to my husband who is only 52.
There is no history of ALS known in my husbands family and they are a large family. Grandparents living into their 80s. 2 cases of Dementia but both in their 80s.
Does this mean that my 4 kids could also inherit the C9 mutation? And what would be their risk of getting ALS?
this is what keeps me up at night!
we just found this out and don’t see the geneticist for a month!
my kids are between 18 and 22.
May 19, 2021 at 8:55 pm #18955
thanks for your reply.
it is quite confusing having been told my husband has the C9 gene mutation with no family history.
I could see some of my kids wanting to participate in research in the future but right now they are still in shock. We will definitely let you know in the future. We are from the Toronto area in Ontario, Canada.
May 20, 2021 at 8:55 am #18956AnonymousInactive
If the genetic mutation occurred later in the family history it could explain the lack of anyone in the family tree getting MND.
Genes are passed down this way:
So there is a 50/50 chance that any child will inherit the mutation. Now, this is not cemented fact. If your husband was the one in which the mutation occurred, one would need to question the timing, before or after the birth of the children. Before then the chance is 50/50 as in above, if it were after then the children would not have the mutation. Nobody has the cause of the C9orf72 mutation, so it may have been an environmental factor that caused it, which is not out of the world of possibilities with ALS because C9 is also the strongest genetic risk factor found to date for the more common, non-inherited (sporadic) forms of ALS and FTD (re: ALS Association).
June 26, 2021 at 9:39 am #19678KikiParticipant
Thank you so much for your informative response which I just saw unfortunately but I’ll try to check the lab you recommend.
As Germany is very conservative genetic testing seems to be a bit problematic without a diagnosis of ALS in ones family though I’d spend the 85 €. When you have a diagnosis financing the genetic test depends on the health insurance. Due to new therapy options for gentic ALS such as Tofersen, the insurance will likely finance genetic testing in the future.
Personally I am still in the diagnostic process and doctors are quite hesitant as my symptoms are still too unclear (lots of cramps in small muscles, jaw clonus, partly paralyzed vocal cords…)
The good news is that the new biomarker NFL/ tau proteine gets more attention and is studied here as a new tool for early diagnosis/ speed of progression and perhaps it might even show if studied meds help. You can send a blood sample to the Charité in Berlin to find out how high the NFL is.
Have you been diagnosed by now? I certainly hope that sth treatable was found!!
July 1, 2021 at 4:55 pm #19746
Hi Kiki, I sent mail to both Charite and the Hospital in Ulm to request NFL/tau test or at least information, none of them responded. Do they work with international patients?
June 26, 2021 at 11:11 am #19679
I feel for anyone who doesn’t have what remains of the UK’s free at the point of delivery National Health Service.
Interestingly I read a paper on the UK MND research blog written by the Prof I’m seeing Tuesday 29 June. In it she promotes the idea that all diagnoses of ALS should include genetic analysis. The paper shows out of 100 people diagnosed that if only those with a known family history are tested 7 carry either C9orf72 or SOD1 markers. If all are tested the numbers substantially increase to (if I get this right) 15+ with c9 and a similar increase in other known genes linked to ALS.
I posed the conundrum to the prof that if my mother hadn’t died with MND, I would not have known nor mentioned the three cases of early onset dementia in her family and therefore not been tested. My son would not know he carries the gene. My sister’s family would also be ignorant. The gene mutation would just carry on being passed through the generations.
And the reason I’m seeing the prof? A chance listening to a piece on BBC radio about exercise and ALS led to her inviting me onto a first in human trial of a long term study of BIIB078 genetic therapy. And she’s seeing my ultra-running son about his mega mountain challenge to raise funds for ALS research.
So, is their really sporadic genetic non- familial ALS?
June 26, 2021 at 11:32 am #19681
Here’s a link to the paper I mentioned above.
June 27, 2021 at 2:59 am #19686
@David “So, is there really sporadic genetic non-familial ALS?”
Yesterday I stated something similar and my post was removed.
@Kikki Could you provide more info on how to send blood to Berlin for NFL tau. I still have a diagnose only by a single neurologist (EMG) and every mimics incl. MG was excluded. As I can still climb stairs I have no dx by a NM Center.
WRT my ALS panel – they could not find my mutation among 22 known genes. I should probably look for more comprehensive panel. Any advice by any member is appreciated.
June 28, 2021 at 11:38 am #19705
Today my genetic professor told me in her practice sporadic always becomes transmitted to children and that chance is much higher than 50-50 like the faulty gene is more “sticky”. She also told me it hits earlier. Let me hope she is wrong. Let us hope they will find cure for the next generation.
June 28, 2021 at 8:20 pm #19712
It appears there are lots of different opinions on the genetics. We were told by the genetics Dr that they believe my husbands C9 mutation is familial now(no longer sporadic). As he has no MND in family history and only some FTD in older relatives >80 years old, his parents are getting tested to confirm this. This will take 2 months to find out.
Genetics Drs told us our 4 kids have a 50/50 chance of getting the gene mutation and then 100% they will get either MND/FTD but the age of onset is not known. So we will wait to confirm if the genetics drs are right and my husbands C9orf72 mutation is familial and did not mutate on its own.
June 28, 2021 at 11:46 pm #19713AmandaKeymaster
You are correct, ALS does indeed SUCK! As for knowing if a case is genetically linked there are pros and cons. The cons — other family members worry, it causes stress, etc.. As for the pros, well, if you know you have a mutation you may be eligible for clinical trials. there are some exciting and promising clinical trials going on right now!! Actually, if anyone else in your family does test positive for the mutation they may be eligible for a pre-fALS study. ALS is hard on everyone in the family. We are here to provide support and information. Hang in there!!
June 30, 2021 at 6:15 am #19725
Hi Lori, I think your genetics doctor is 50/50 himself. Numbers can be misleading, but I understand that each child carries a 50/50 chance of inheriting the mutation, but that if they do carry it they have an 80% chance of developing ALS.
Strange that your doctor is so sure.
July 2, 2021 at 4:04 am #19758
Hi Amanda, another pro is that genetic screening and embryo selection can eradicate the gene from future generations.
June 30, 2021 at 6:19 am #19726
And it turns out the trial I’m selected for is Wave Life Sciences’ WVE 004. It looks interesting & promising in pre-clinical trials, but I guess we’ve been here before.
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