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I am looking for other families with Familial ALS who might be able to share information with me. I am curious to know if anyone has heard of any current studies going on that we could possibly be involved in.
Down syndrome Counseling ALS Pain Amyotrophic lateral sclerosis (ALS) Falls Dementia
I am new to this discussion having learned a direct relative has passed away due to ALS and that several others in the family also have had ALS. I'm trying to understand if there are any estimates of the probability of developing ALS in a family like this. I do not have easy access to the family information because I was raised by my adoptive family and the biological family knows little to nothing of me.
Yes - It should have been reinforced that testing positive for the SOD1 mutation means you are more likely to get FALS - but just having the mutation doesn't mean you WILL get it. Science is unsure of the trigger that makes the mutation active.
If you have a connection to the Farr Family - I know that Massachusetts General of Boston has an ongoing study. I am not sure if they are doing other families, but they have been researching the Farr Family data back to the 1800's. If you need contact info for MassGen, I can provide.
I Have FALS and had the genetic testing and do not recommend it Myseld and my sister tested positive for the SOD1 mutation and were suppose to get ALS by 48 and are 50 and 52 so skip the test it is a mind bender
Perry
I am very sorry to hear all this. My brother passed away from ALS in Jan 2008. It is a terrible disease. He had bulbar. He was a strong man. AT the end of his life, the last 16 weeks he started to not understand. He would say things that were off the wall.
My Dad took it really hard when my brother passed. He is not having a hard time getting around. I am wondering if he has ALS. I asked him to go and get checked but he states they told him it was arthris. Its really scary.
I will pray for everyone!
I am hear if anyone wants to talk.
Marcy
We talked with Mom & Dad often about the feeding tube and it helps to know that it was her decision and that we're not having to make it. She also wanted to participate in research, so we are sending her blood sample along with a family medical history to Northwestern. I have no clue why her ALS is different than her brothers, who had limb onset. We don't know at this time if any of them carry the SOD1 gene, though was told by a top researcher that it is doubtful that Mom's is due to that. He'd never seen anyone with FTD that did. She began having a mental decline perhaps 3 yrs before diagnosis and like you said, were totally taken aback when told it was ALS.
At one time, I was interested in knowing if I carried any genes responsible for this disease, but it doesn't matter now. I feel it's enough to at least know enough about the symptoms that I know what to watch out for and perhaps not have to go thru months or years of expensive testing and mis-diagnosis that so many go thru.
I've found peace I guess and just try to advocate as much as I can so that we can rid this world of ALS so that my kids, especially, don't have to worry about the possibility of
getting it.
At the time I had no idea that there was a possibility of it being BOTH (this was 15 years ago). I just thought she was in deep denial. She became VERY angry and her personality totally changed. In some ways it made me not be able to relate to the others who did not have this to contend with too. She did not have a feeding tube either. Did your mom make this decision before the dementia kicked in? I do think my mom had bulbar onset too. Would you ever consider getting tested for the gene? Do you know how genetic the dementia part is if it is passed on?
What was your Mom's progression like?
I agree that it is hard to find others dealing with both issues. In some ways I think it has been good that Mom isn't very aware of what's happening to her. At least it appears that way. She says very little and we can't tell if she knows who we are anymore. We ask if she's hurting or is hungry and will sometimes slightly nod but normally doesn't respond. She also yells(not sure how to describe the sound) when she is being dressed. She can only eat thickened liquids spooned to her and will make a loud "awwww" sound as the spoon is put in her mouth. We don't know why and it bothers us but what do we do??
She has been in a care home Alzheimer's unit in our small town since last Sept. Before that, it was a challenge to get her to use her walker properly or couldn't be trusted to not get up and try to walk on her own, etc.
Mom didn't want a feeding tube, so I got Hospice involved a few weeks ago to help give Dad a break(he goes over to feed her nearly every day) and to give him some support.
My mom had frontal lobe dementia with ALS. It was originally diagnosed as Alzheimers until we realized that it was physical. Not many people understand what it's like to live with both the mental and physical problems.
Hi Niki-
The bulbar onset simply means that it began in the bulbar region instead of the limbs. Bulbar means it started in the neck & throat area basically. My understanding is that they think because it affected her neck 1st, it caused the FTD. She started having some mental decline 3 yrs or so before the ALS was diagnosed. She is now in a care home because Dad can't pick her up anymore when she falls. There were times that she wouldn't know who we were but lately she has been a bit better. She becomes very distracted and it is very difficult for her to say but a few words at a time. Sometimes she surprises us and says a whole sentence. It was difficult getting her to use her walker for example. The dementia can complicate care. I honestly don't know how aware she is now of what is going on and I wonder if that is a blessing perhaps??? Her 2 brothers had limb onset and it makes me wonder if I inherit ALS, which type will I have? Wish I knew more!
What has your Mom experienced?
I don't know what bulbar onset is, but my Mom has been diagnosed with ALS w/ frontal temporal dementia. I would love to talk to you.
Emory University is currently recruiting participants for its study titled: Genetic Epidemiology of Familial Amyotrophic Lateral Sclerosis (ALS). If you have been impacted by familial ALS, you may be eligible to participate. For more information, please click here or visit www.clinicaltrials.gov and use the following identifier: NCT00317616
yes, I am a family member that has familial ALS in our family,
I am a nurse and have been working with ALS patients for many years, in particular on the familial ALS gene studies here at Massachusetts General Hospital in Boston with Dr. Robert Brown. I would be happy to speak to anyone directly regarding any concerns they may have or about the familial gene research we are doing if you contact me directly at my email. My phone is 617-726-5750. We welcome all new families to the study.
Hi Cathy:
Glad you are working with the Siddique's. They legally cannot give you information on your family members nor do they contact you with any findings. You should call Nialah directly and speak with her. Another family member did all the genealogy so I'm not familiar with it all....she works in a library so she has plenty of resources!! It seems like way to much of a challenge to me, but I am so grateful she did all that work!!
As far as the genetic testing, you will be required to go thru genetic counseling first. Nialah can help you locate someone near you. It is a very frightening experience, but then so is the fear that you live with 24/7 not knowing!! I hope you never had the familial ALS mentioned in any of your medical records...I never did because of the whole insurance issue. You will have to apply for all your insurance (life, long term disability, etc.) and get the policies prior to any counseling and testing....It took about six months for me to get the insurance as they looked through all my medical files (including my psychiatrist who was the only one that knew about the ALS). They were'nt going to give me the policy upon those findings....fortunately my test came back negative and I was able to get the insurance with the letter from Northwestern. Do you know if your family carries the SOD1 gene? This is the only gene that they are able to determine if you are a carrier. I would assume from the number of deaths in the family that it is.
Are you involved in the familial study at Emory University? You should get involved with them as well. Let me know if you would like this information.
Cathy, I certainly empathize with your situation....it is very difficult to live with that fear!! Please keep me updated and let me know if you need any information.
God Bless You and keep you healthy and strong!!!
Laura
Laura,
After my father and his brother died from ALS (two of four siblings), we have discovered a total of 18 family members that have or died from ALS (obviously familial). In 1990 we (surviving aunts/uncles/children) sent our blood samples to Dr. Siddiques study but haven't heard anything. Do you know if Dr. Siddiques study would be able to tell those who particpated any information about their particular family?
I am doing some genealogy and it looks like more than just these 18 family members, but hard to confirm ancestors without death certificates. Most genealogy researchers don't list cause of death. Would be interested in a Surname registry of those families afflicted is there one???
Would like to get tested personally, participate in other studies, I know that I am high risk, but afraid that I will not be able to get life insurance, health insurance if told that yes, for certain, I have or will have this dreaded disease. Can I be denied Insurance??? So many questions so few answers.
We obviously are dealing with familial ALS but the other 3 members of the family had limb onset. My Mom has bulbar onset with frontal temporal dementia. Has anyone had experience with that type??
Hi Laura,
Nice to see the return of a real Advocate and a person who is very knowledgable about Familial ALS. I have FALS, I think? I lost my father to this disease in 1987. I am not sure but seems like we know about the same, not much. I have been screened for SOD1 and it is hiding or not present. All of my symptoms are very similar to his but I am only being treated as any other person with ALS. I am not complaining but 20 years is 20 years. Glad to see you are going to DC and I will miss you this year. For all of us, please find us any new information.
Leon
I haven't been on this site in months, yet I was asked by ALSA to post the very first entry on this site because of my family history and involvement with the ALS community. Looks like I have a lot of catching up to do....and am ready to jump back in the rink since tax season is over!! My family is known to have lost the most family members to ALS.....at least 30 people. My family carries the SOD1 A4V mutation which is the most aggressive form of ALS. I have personally witnessed five family members succumb to this disease. I have been and am involved in so many studies for ALS. I went through genetic counseling and was tested for the gene....hit the lottery of life after so many years of living in fear!! As Deb mentioned (Hi Deb....yes, I'm going to DC) Nialah Siddique is the woman you need to contact. She is the absolute best!! Any questions I can answer I would love to help....feel free to add me as a friend!!
Laura
The studies I have been involved with are:
1.) The genetic study at Northwestern with Siddique's. (Bloods drawn for gene study and family genealogy))
2.) Harvard/Mass General a Study for biomarkers (Bloods and spinal tap done)
3.) NIH genetic study for ALS (History and physical/bloods and family genealogy).
4.) Emory university is beginning a study (not approved yet by FDA) for a drug cocktail for familial ALS members who are healthy but have the gene. (it is truly in the beginning stages...they have sent out request for volunteers. I believe they have had more than 200 responses). I have given a buccal sample and genealogy chart. They are currently making up a questionaire to send out to people.
5.) Unfortunately I had to travel to chicago/Boston and DC to volunteer for these. Expenses paid for by me.
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