sporadic als turning into familial als

[kmgy]

Hi Everyone,

First I would like to say that I have the utmost respect for all of you that have taken the time to join this forum, and help others with regards to this horrific disease. I lost my father to als, bulbar, on December 27, 2004. He had symptoms beginning in august 2003, and was finally diagnosed in july 2004. Unfortunately, only 5 months after diagnosis, and 16 months after first symptoms, he passed. He walked until the end, just could not breath or swallow much. He could talk, but was difficult for most to understand. fortunately, I could understand the majority of what he said when he did speak. I continue to participate in the als walks in his name, and try to keep updated on all the progress/lack there of with respect to the disease.

His type of als was diagnosed as sporadic, since there were no other family members affected. I am curious as to how often sporadic als turns into familial als. I keep thinking that I may have symptoms, but also feel that i may be worried enough about symptoms that i am mentally making my symptoms appear. Specifically, the skin on the tops of my hands is very thin, and the veins/tendons are prominent. Also, My non dominant shoulder/arm is less muscular than my dominant. I think this can probably be attributed to natural aging, arm usage, and the fact that i have small wrists/bones to begin with; however, I am making myself crazy. I also feel tingling here and there throughout different parts of my body - again, maybe I am concentrating too much or maybe stress related to worrying.

Any input would be appreciated. I will continue to keep all of you in my prayers and will continue to post/help others as much as I can with what I have experienced/know.

thanks.

 

[CindyM]

Hi KMGY. The thing that is in your favor is that famiial ALS is the rarest form of vary rare disease. And I think it is normal for folks with a loved one who died of a terrible disease to look more closely at their own health. I hear of this with cancer in the family, or heart disease, or any other serious illness.

That said, it would not hurt to get checked out. If for no other reason than to relieve your fears. Cordially, Cindy

 

[Londoner]

Hi there,

It can happen as it did in our family. My grandmother was the first to have it 20 years ago and then later two cousins died from it. In our case however, the SOD1 gene responsible is a 'low penetrance' gene meaning that most people with the gene do not manifest symptoms of the disease so it can go unnoticed for generations within a family.

That aside, it is very rare to have familial ALS in the family and in this case, if you cannot identify any other family members that have had it (or could possible have had it but been misdiagnosed) it is highly unlikely. One thing to say is that just like you I went through years of panicking about it and the brain can certainly do funny things. I can categorically say that my increased anxiety about it caused all sorts of 'weak' feelings, muscle twinges, shakes etc. but to date I am 100% healthy. Ironically it was only after I tested for the gene that I started to calm down - and I tested positive! Now I just think life is too short and if it happens it happens. If everything in my body is functioning one day then I live that day and forget about it till the next. As my neurologist said to me 'everyone has muscle twinges and tingling - come to me if you experience any weakness'.

I hope that this is of some comfort to you. It is always hard to deal with this but I would be pretty certain that you will be fine. However, as the other writer, Cindy, said you can always get it checked out to put your mind at rest.

 

[kmgy]

cindy m and londoner,

Thank you so much for your quick replies. I may just try to relax for a while, and see if my percieved symptoms go away, or diminish. I agree that if symptoms appear to continue that i may get checked out. It is kind of like the want to know/dont want to know internal controversy. I just worry myself sick (literally). I know the stress is not good, but unfortunately like the both of you, i have seen what this disease can do. Londoner - it is interesting that after testing positive, you are more relaxed about the possiblity of someday conracting the disease. I admire your strength and philosphies on life.

KMGY

 

[Shel]

Hi...
I understand where you are coming from. I think that is in the back of our minds when any family member has ALS. My mom has ALS, and her first cousin died of ALS. We didnt know her well because the family didnt stay close, so we dont have alot of details on her illness. My moms Dr. is aware that her cousin also had ALS, and he still tells me that he doesnt think it is "familiar". It is rare. I know what you mean about feeling symptoms....things that otherwise wouldnt make you think twice. Dont know what good that does you, but I thought letting you know that even with it in our family, the Dr. still isnt confirming familiar.

 

[kmgy]

hi Shel,

I am sorry to hear about your mother. thank you for your response, it does help when others respond to questions. I always gain something from all replies. thanks again, and keep taking care of your mother. I helped with my father, and it comforts me now to know I did all that i could to help him with this horrific disease.

kmgy

 

[Shel]

hi, thank you...

you are right, it does help us to know we are there for them. People with ALS are the strongest people in the world. Take care.

 

[degem25]

I am so happy that I found this forum. My paternal grandmother was diagnosed with ALS in April of this year. She has progressed very rapidly. It has been heart wrenching to see how this disease is destroying her. My maternal grandfather also had ALS. My sisters and I were initially very concerned to have grandparents on both sides of our family with this disease. With research I am convinced that they both likely have sporadic since no other family members on either side of the family have had ALS.

My father has become obessed with the idea that he may have ALS as well. He is experiencing muscle twitches and spasms and worries so much that he isn't sleeping. We have tried reassuring him and finally convinced him to go and talk to a doctor. It's reassuring to read that others have this same fear.

My heart goes out to families destroyed by this disease. ALS patients are in deed the strongest people in the world and those who care for them are a close second.

D