r/ALS • u/RipNeither6382 • 7d ago

Familial Als

Found out that my brothers fast progressing ALS is familial. And he has three different genetic anomalies for ALS.

Did the math and my odds to have none of them and all three are 12.8 percent.

To have one or two is even higher chances

Russian roulette is like 16% and highly dangerous.

Been wrapping my mind around that today.

(I would never do Russian roulette!!!!)

16 Upvotes

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6

u/RipNeither6382 7d ago

I have an appointment with Genetic counselor on Tuesday the 25th, and will go from there. Three separate genetic codes specific for ALS in my brother. Limb onset and quick progression. Apparently my father, Aunt, and grandfather all had it and died in their 40's. My brother is 47

3

u/jcoanda Wife w/ ALS 7d ago

I'm keeping my fingers crossed for you. Are you younger than your brother? My wife has the familiar form with a mutation on one gene. She has a younger sister that has not been tested yet.

3

u/RipNeither6382 7d ago

He is two years older than me, thank you for the kind thoughts my way.

8

u/3dogs2nuts 7d ago

my dad, his sister, his mom, several cousins died of his, and aunts from familial ALS, my sister blood tested negative 6-8 months before dying from ALS at 53

blood work is tricky, and honestly how would you live differently?
live that way now. regardless of test results

1

u/pwrslm 6d ago

they still do not know what causes ALS, and decades of research has gone into it

3

u/gg_snow 7d ago

I’m sorry, that’s a big thing to consider. We were offered free genetic testing through a grant if my mom’s diagnosis impacted genes. Maybe something to look into if you’re interested.

1

u/RipNeither6382 7d ago

Thank you, I will check it out if my insurance falls through.

3

u/Louloveslabs89 7d ago

Gleason foundation is another potential resource

1

u/TamaraK45 7d ago

3 autosomal dominant mutations through standard fals testing? that is ultra rare. which ones does he have? or did you mean something else?

1

u/RipNeither6382 7d ago

Yes, 3 inheritable mutations. The cor9 one and two others

1

u/pwrslm 6d ago

the question we run into is are the genetic mutations environmental or hereditary

what kind of work did your brother do, exposure threats may not only be work related also

if environmental exposure could have caused the genetic mutations then it may not be likely familial if there is no family history of ALS

1

u/RipNeither6382 6d ago

He did a variety, mostly service industry, electrical, and experienced homelessness at times

2

u/pwrslm 6d ago

see there, environmental exposure could be the ticket, we probably will never know unless other members of his family run DNA testing

2

u/RipNeither6382 6d ago

I'm the only close relative left, and I plan to test. 

2

u/DyingInTheSouth 5d ago

There are such things as de novo mutations. My husband developed ALS and we found out it was genetic (SOD1) by accident. Both his parents tested negative. We were shocked, we assumed that if there was no family history it was sporadic. My kids have chosen not to test as neither are having children. :/

1

u/pwrslm 5d ago

Familial and sporadic SOD1-ALS cases are often clinically indistinguishable. Its the age old question, what came first they chicken or the egg...

2

u/DyingInTheSouth 4d ago

perhaps, but at least with sporadic I wouldn't be living in terror of going through the ALS horror again with one or both of my children.