How to navigate a (potential) FALS diagnosis?

[Pelly]

Hey all.

I posted here in June of 2023, worried about muscle twitches, cramps, etc. I, luckily, seem to be fine. My grandfather had ALS on my father's side. Recently, my father has been experiencing left sided knee weakness, to such a degree that he cannot walk up or down stairs, or get up from a chair on his own. His father is the one who had ALS. Yesterday, my father had a neurology clinical exam, after which he was given a “wait and see” diagnosis pending an EMG, but the neuro is strongly suspecting ALS. My father has distinct atrophy and weakness in his left quad, calf, knee, and ankle, with foot drop, hyperreflexia, etc.

As of now, my father is not taking this well at all. He has been drinking heavily, and is currently refusing any genetic testing, even though his doctors, and me and my sister really recommend it (pending an abnormal EMG).

As his son, how do I approach this? The whole family is really reeling from the suspected diagnosis, and we're all expecting the worst from the EMG. I really, really want him to get tested for genetic markers, as both me and my sister are married and expecting children. How do I push this without being insensitive? Should I just let him work through this? Am I being selfish by wanting genetic testing?

It's a lot to work through, and any advice would be greatly appreciated.

Thanks,

Will.

 

[ReginaS]

Hi Will,
if the EMG leads to an ALS diagnosis my guess is that your father (and the whole family) will need some time to digest it. There is still plenty of time to consider genetic testing. Facing the diagnosis is terrible but it might be too much at the moment to also face that this could potentially affect children and grandchildren.

My partner was too dehydrated in his last days when a nurse wanted to take blood (tried several times) that could be stored for future genetic testing. So his sons found a funeral home where the blood was taken directly from his heart shortly after death. It had to happen within a certain time frame but they were able to get a sample before it was too late.

All the best to you and family.

 

[Marieb425]

I’m so sorry to hear this.

If your dad is unwilling to do the genetic testing I think you and your sister could do it (if you decide you want to). You can look up Invitae - ALS Identified. I think it’s even free.

 

[Pelly]

Hi Regina,

Thanks so much for the response. I agree: I think I may be getting ahead of myself here. We don't even know for sure what's going on, and my father is surely wrestling with the fact that this may affect my sister and I, and potentially our children. I think there's more time than it feels like, and waiting is the best bet right now.

Again, thanks for the reply, and the well-wishes!

 

[Nikki J]

I am sorry for your dad. Please don’t continue to pressure him for genetic testing right now. I hope he comes to want it if he is diagnosed. There is a chance it is sod1 which has a treatment that helps ( not cure). He is dealing with a lot of don’t add to it.

As far as testing for you and your sister please do not rush into anything. You state expecting children - your sister and your spouse are pregnant? Testing won’t change anything. If you meant planning children that is different. Ivf with embryo screening is possible.

I would still give yourselves time though. The people I know who regret testing as asymptomatic potential carriers are those who rushed to test. Often they are people who didn’t know about their fals and just found out. Once you test you can never go back. I knew we were fals long before we had an identified mutation. Once it was discovered and confirmed in my family I knew I wanted to test. I still waited 6 months to be sure.

You are very young. I expect your sister is too. Cures and prevention for fals will almost certainly be here before you could potentially need them