ALS/FTD link and testing

[BlsdMama]

Info: My grandmother passed at age 80. Diagnosed with FTD at 77-78.
She had 11 kids. None are unhealthy.
I have a current dx of PLS. We're still waiting for the dirty EMG - I've had four so far. Three years into the first symptom (age 40) - drop foot first, then weakness, UMN signs, fasiculations noted on exam. Right leg first, then left involved, now right arm showing slight signs of weakness and hyperreflexia.

I wasn't concerned that it was familial. Grandma was the baby in her family. None of my aunts or uncles are unhealthy.
Mom has been saying for several months that Dad is losing his memory. Yes, he's been retelling stories, but... he also drinks a lot. But lately, he is REALLY losing his filter - more so than ever before and it wasn't all that great before.
Long story short, he completely blanked on an activity they'd done the night before. It was the strangest thing I've witnessed. He is 65 and one of the oldest in the family.

I'm thinking of asking for genetic testing. Am I just being anxious? I have not been overwhelmed by anxiety for a bit now so it's not just that. He will *not* go to the doctor, I promise. He despised watching his mom deteriorate and he won't face anything if he can help it.


I have eleven kids. I can't even fathom what this would mean.

 

[Nikki J]

I would talk to a genetic counselor but if it is familial the most likely culprit is c9 which has an early trial and a ton of research being done and opportunities for adult family members to participate

 

[KimT]

With all the progress they are making in FALS, I would get genetic testing. I got genetic testing because there was a question with one of my grandparents and my mother died rather young from an unrelated issue. The genetic testing uncovered some interesting things so I'm getting a complete genome sequencing before year end. All the common ALS mutations have been ruled out, for me. I'd just rather know than not know because it could help other relatives.

Everyone is different in their desire to know and, no matter what anyone else recommends, it is your choice.

Johns Hopkins routinely tests c9 for anyone with possible ALS.