Familial Versus Sporadic

[hawk11]

Hello,
Thank you for allowing me in your group. My sister was diagnosed in 12-12-13, she passed 5-4-15. There are 7 children total, a brother died at 22 months unrelated to ALS, all in relatively good health. My mother is adopted. Both parents 86, still living and in relatively good health. My sister also had FTD.

My question...why are people familiar with ALS encouraging me to get tested? The ALS clinic stated she had sporadic ALS.

I admit around the time of her diagnosis I was having strange symptoms including now twitching, I do not believe I have ALS, all blood work is fine for mineral/vitamin. My sister hid her symptoms it until it was too obvious to ignore. She was diagnosed on first visit to Neurologist. Due to her FTD and Bulbar onset, it was hard to pinpoint what symptoms she had first.

Why are people encouraging all of us to be tested? Have a missed an important part of familial and Sporadic ALS? I am being told I have a 50% increase chance of getting ALS, scary given my symptoms. If I learned anything from all of this...doctors are not as knowledgable outside their area of expertise, with all respect implied....it is the truth.

Thank you so much.

 

[Nikki J]

Who is telling you to be tested? For what? If there is no identified family genetic defect ( your sister would have had to be tested) it is not recommended to test asymptomatic family members of even a known FALS family. There are only identified genetic causes for about 60-70 percent of what is clearly FALS. Unless your sister had a positive gene test you are being poorly advised. Was there a test? Sometimes they test seeming sporadic if the person is young or perhaps because of the FTD

Did you read the FALS subforum sticky as I advised?

One relative is not FALS about 90 percent of ALS is SALS

My family is quite typical for FALS my mother was 1 of 5. 4 were affected. My sister died from it. She was the first in our family to test positive for our defect because it had only been discovered the previous year. When I first saw my neurologist she looked my family history and just nodded because that is what you see with FALS

 

[hawk11]

Several people have said to me" you do know 50% of ALS patients end of having relatives with ALS" I have not read that anywhere. I am with you, yes I read the sticky.

I stated I do not believe I have ALS. It just unsettles me people would be so careless with such a serious subject. One person in particular, her Father died of ALS. She now states she has it..others have suggested this to me too. My sister was not tested.

I believe my concern comes in that I do not have medical history on my Mother's side and the comments being made. I am clueless as my sister was diagnosed, quickly could not speak and had FTD. This made it difficult to understand what her symptoms were. Her husband was in denial and would not take her to the doctor.

I really appreciate your information. I do not believe I have it. I am concerned with my symptoms, but never suspected ALS...wanting to make sure I was not in denial and dismissing the "testing" comments.

I asked her Doctor if he was positive it was SALS and he said, yes.

Thank you so much.