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New member
May 20, 2018
Loved one DX
Eagle River
Thank you for adding me/us to the forum. In brief, here is our story: My husband lost his mother to ALS when she was 59 years old. She had one aunt, one uncle, and two first cousins who also passed from ALS. There were a couple other family members who may or may not have had early signs, but passed from other causes. My husband had 7 brothers and sisters counting him, and they are now all late 50's to late 60's. About 3 years ago the oldest brother began exhibiting neurological symptoms, but he also had several confounding other medical conditions. Eventually he was in a wheelchair, but never lost the ability to speak or swallow. Along the way, he declined any further testing that would lead to a definitive diagnosis, and died of a respiratory arrest May 9 2018. Two days ago we were notified the youngest sister, who had distanced herself from the family, was diagnosed with ALS 14 months ago. She has a feeding tube and is currently hospitalized in ICU on a ventilator. She does not yet have a trach, but we are led to believe that is the plan. One of the surviving brothers has an adult daughter who has been experiencing bilateral weakness in her hands and is pursuing a diagnosis. A group of us in the family have banded together to take this on. We are interested in research programs, drug trials, genetic testing and mapping, and absolutely anything else. So far we are a nurse practitioner, medical researcher, nurse and editor of a nursing research journal, and two more RN's one of which worked for a research program. Can anyone give us any advice on jump starting this pursuit? We all were in denial for so many years, when there were no new cases in the family, but now we need to deal with what is here and may be coming.
I'm so sorry for this news.

This forum is a huge resource - there is a search function and a google search as well.

Many members are typing with their eyes so please try searching first, maybe try the forums for research to start and read the threads written over the past year.

Once you have searched and researched here, you might add questions to threads, or start a thread with specific questions.

That will allow people who have specific input to reply.

I hope that helps get you started - there is so much here that will help you.
Couple things-

There is a section here: Familial ALS - fALS - ALS/MND Support Group Forums that is an excellent resource for information on FALS.

There are a few known genes that cause FALS, so finding out what gene may provide a jumping off point for your family. It could direct where to look next.
Hi I have moved this to the familial ALS subforum

There is a great deal of work being done with genetics. There are various opportunities for first degree relatives of FALS PALS.

It would extremely helpful if one of the symptomatic people was gene tested. Preferably the diagnosed sister but that may not be possible.

If the family is of European descent it sounds like it might be C9orf72. C9 is the most common cause of FALS and the age would be consistent.

If gene testing is not a possibility the first study your husband or siblings might consider is the DIALS study. It is at Washington University in St Louis with Dr Timothy Miller and Mass General in Boston with Dr Katharine Nicholson. They will accept people with a clear FALS history who are first degree relatives. They will test for the known mutations and tell you results if you want. It is a big commitment of time ( multiple visits over 5 years) and money as they do not reimburse travel expenses.

If the mutation is known Dr Benatar at U Miami follows carriers in his preFALS study.

Other studies exist and if C9 is documented the FTD studies will take family members

The only current trial is SOD1 antisense. C9 is starting trials later this year. In both cases trials are for people with ALS in the earlier stages - not asymptomatic carriers or later disease

I hope this helps

ETA I just realized you are in Alaska. That obviously makes study participation difficult
Thank you so much Nikki, this definitely helps. Husband, myself, and our 3 children live in Alaska, but the rest of the family is in the Midwest and west coast. We are of European, mostly Germanic, descent.
Ask the neuro if he/she is familiar with Invitae. They do free genetic testing. My doctor ordered it for me because there was questionable family history and he also believed I had a comorbidity because of the intensity of pain early on. The results showed no FALS but did show a variant of a gene associated with autosomal dominant myofibrillar myopathy.
I had never heard of them Kim. I looked them up and if it is the dot com it looks need based now. However they will do a panel for 250 which is amazingly cheap. They don’t appear to test for c9 at all now though. I searched the catalog and the only hits were C9 is not included in this panel.

This might be a resource though is the family decides to pursue testing. As it says in the top post of the subforum testing asymptomatic people is problematic as there are still 30 percent or more FALS families with unidentified mutations

OP if anyone is near Northwestern they do a lot of FALS work. Last I checked they only will test families if there is someone currently living with ALS who will send blood. They will then study selected relatives ( I think first degree). Nailah Siddique has been very helpful to families answering questions.

UMass also has a similar study where you mail blood and information. Again it needs a current PALS. I know UMass does not share results. Northwestern has, sometimes

We thought it would cost $250 but they did both a comprehensive neuromuscular disorder panel and a comprehensive neuropathies panel with two add on panels. I just had it done this year and it was free. My doctor ordered it directly from his clinic and they came to my house to do the blood draw.

In some cases, they will also offer free testing to siblings. In my case they did not.

The only other finding was a gene that is associated with Charcot-Marie-Tooth disease. Uncertain significance.

I was already tested for C9 at Johns Hopkins in 2016.

There is another company called indepth diagnostics and they are trying to build up a data base of enough patients (all types of neurological diseases) to do free genome sequencing.
Interesting Kim. Someone on FB tested with them for a known defect and paid so it must vary They reported just yesterday and were happy. I think they only do standard sequencing as no c9 and no Huntington’s

It is amazing how much testing has gone down in price. Even if not free in every case 250 is a fraction of what testing used to be. 5 years ago I paid almost 600 for just c9 and they told me it was one of their cheaper tests.
Thank you all for your advice. I am going to do my best to keep you all updated in our progress. So far, we have contacted and received replies from CRiALS, Pre-FALS, and Northwestern Univ Feinberg School of Medicine. Miraculously, one of the brothers had copies of their mothers complete medical file. Also, at the suggestion of one of the research facilities, we are attempting to see if my MIL had any specimens that were either analyzed or saved but since these would be from 1986 it is a long shot. My BIL donated his body to a medical school so it may be possible to retrieve specimens from him, although he did not have an actual ALS diagnosis. Now for my frustrations and request for advice. It is doubtful that my symptomatic SIL is going to consent to genetic testing. Even though her medical team gave her a diagnosis of ALS in March 2017, she & her husband & 3 adult children are maintaining she has a mal-absorption syndrome and that she is going to get better. Because of this, they have not applied for SSD, medicare, or benefited from the fellowship and information of support groups. Their journey has been very isolated, and emotionally and economically draining. She was one of her mothers primary caregivers, so should be able to see the courses are almost exactly the same ( although this also may be contributing to the fear/denial). My question for you: How does one proceed with someone with a medical diagnosis over a year ago, with significant symptoms consistent with the diagnosis, who has not yet come to terms with accepting this? I could fully understand shock and denial for a time period, but 14 months? With full symptoms? I confess I am also angry because I feel she is harming the future of her own children, and the extended family as well.
You can’t change your sil’s course. It is frustrating and sad but don’t waste time and energy there.

Should the family genetic defect remain unidentified with no symptomatic person to test then one option would be for at risk members to test for genes which offer trials for asymptomatic carriers when gene blocking is found to work. Practically right now for an asymptomatic person knowing whether they carry a mutation makes no practical difference now.

If there are first degree relatives who qualify for DIALS and can commit to multiple visits this would give that person testing for the identified mutations. Paying is an option. Re invitae I have to pass this along. I posted about them in a facebook group and one person responded they had had a very negative experience- a 1000 dollar charge for a test for one mutation only and “ horrible” customer service. Kim obviously had a much different experience but double check everything if you pursue that route

Good luck with figuring this out.
I have 2 places for you to inquire:
Cedars-Sinai Medical Center, Department of Neurology, Peggy Allred Ph. 424-315-2694 San Diego,
They were doing a study testing for the C9 in people with a suspect of familia.

Forbes Norris MDA/ALS Research Center, Dallas Forshew, Manager, Clinical Research EMail [email protected] San Francisco, Ca
Dallas is in charge of research at the als clinic I attend. She is very knowledgeable about research and may know of someone to contact.
Sadly, my sil passed away 5/24. We had sent her family the information for genetic testing and then backed down to a respectful but supportive distance. They decided against it. Four of the five remaining siblings are on board with whatever they can do to assist. My niece is looking through her grandmothers medical record to see if there is any clue to testing that may have been done.

During our work at constructing our family pedigree, we discovered there *may* be a cousin in the NW database- finally there is an advantage to having an unusual last name. We have given permission for that family to contact us. I also may not have mentioned before that there is a large number of persons with dementia in the family tree, unsure due to old records and memories if it is FTD or not, but leaning towards that.

At this time, we are working with Nailah at Northwestern in Chicago. Logistically, it seems that if a program needs a person to be physically present occasionally, a west coast center would be better. Still not sure what is the best fit for our situation, and welcome any and all advice. Thank you all!
Very sorry to hear about your sister-in-law and all your family losses. I would think with some coordination, various family members might be able to make physical appearances at more than one center, e.g. both West Coast and NU, as many of these programs are multi-center in the end.

Sorry about your sil.

Nailah should know about studies in the US that are geographically accessible to various family members. It sounds like the demented relatives are more distant than first degree to the core group?

There are some FTD studies around that test if someone is a close relative.

I even more strongly suspect c9 due to onset ages, ethnicity,dementia history and the simple fact c9 is most likely statistically. I do know people with other mutations who have this history so it is not a slam dunk. However there were a lot of families ( mine included) that got a genetic answer when the c9 test became available. Some had samples stored with Northwestern others like my family had someone diagnosed to test

If Nailah comes up with studies besides DIALS that will test asymptomatic relatives of an unknown mutation will you let us know where they are?
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