Concerned about FALS

GXTrex

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Hey all,

My dad (68) was recently diagnosed and I am concerned about it being hereditary. They are in the process of doing genetic testing for als and ftd. Normally I wouldn't be concerned but my uncle mentioned something to the doctor about other family members in previous generations having als. I have been too nervous to ask him more details honestly.

My dad has two brothers (66 and 62) who do not have any symptoms. His mom (my grandmother) is 90 without any symptoms. His father (my grandfather) passed away at about 70 from unrelated reasons with no signs of als. Thanks for reading
 

Nikki J

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PALS
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Well you need to ask your uncle what he was talking about.

it is now standard of care to test all PALS for the mutation c9orf72 which causes ALS and FTD. This doesn’t always happen but it should. Current recommendations are if this is negative and family history exists and or the person is under 50 they should test for the rest of known mutations. My clinic however tests everyone for everything if c9 is negative.

if other relatives had ALS then the relevant grandparent was a carrier. Asymptomatic 90 yo carriers are exceedingly exceedingly rare 70yo carriers are unusual.

assuming your dad does carry a mutation your chances of having it too are 50/50. There is a lot of research into FALS and probably there will be prevention for carriers.
let me know if he has a mutation. There are studies you would then need to consider to help develop prevention strategies
 

GXTrex

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Thank you for your reply Nikki
 

GXTrex

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I found out more details. There were no cases of als in my family. There are some cases of dimentia (my dad's cousin and my dad's father on opposite sides of his family) so they want to check for the c9 gene. If that's negative, they will look for other possible als mutations.

They are also looking for kennedy's disease because he has some sensory involvement which is typically in that.
 

GXTrex

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I just found out that my dad has the c9 mutation and im shocked and scared. Based on his family history I didn't suspect it at all. Im supposed to call Dr Harms Monday to discuss it with him.

Are there any promising trials or potential treatments in the works? I'm 32 and my brother is 28.

My fiancé is obviously also very concerned.
 

Nikki J

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PALS
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There is much promise. Do not panic. Your chance of having the mutation is 50/50. You are just as likely to be fine.

First there is a current phase 1 gene blocking trial by biogen. There is another supposedly starting soon from Wave life Science. Dr Brown at UMass also has one in development. There are also trials pending looking at other ways of attacking c9 and a current one for metformin at one place in Florida. Because c9 is common ( relatively ) and causes FTD and is implicated in schizophrenia there is a lot of research happening. Once something helps symptomatically there are plans/ hopes for prevention trials. I believe you and your brother will be fine.

if you are planning to start a family there are assisted reproduction methods that can ensure a carrier will not pass the mutation on.

you and your brother can help by participating in genetic studies for first degree relatives. There is one at Columbia. If your brother is elsewhere studies are also in Miami, Boston and St Louis. There is a desperate need for carrier data to make carrier studies possible
 
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