Fals-future advice

[alsnewbie]

Hello,

First time poster here. My mother was diagnosed in February with FALS at 71 and is progressing quickly. I have the genetic paperwork from her but I haven't opened it or discussed it with her. I know there are pros and cons to knowing details and I'm undecided at this time if I want to know more. I'm 39 and do not plan on getting any testing at this time.

I think a lot lately about what it will be like for my husband and kids if I develop symptoms, especially if my kids are still young.

My question is: Is there anything you wish you knew or would have liked to have had in place in advance of your diagnosis that would have set you or your family up better for dealing with it?

Thanks for your time

 

[Nikki J]

You don’t know the mutation because you have not looked is that right? I would want to know so I could keep an eye on research at least. With documentation of the mutation you could participate in research without knowing your own status. This would keep you hooked into the research so you would know what is happening.

Prevention is coming. There is a current trial for sod1 and the fus trial also has given their aso to an asymptomatic carrier. At 71 I doubt it is either of these but the hope is that there will be prevention for other mutations relatively soon. When that happens for your family mutation then you would want to know.

Some at risk people have long term care insurance. It has become more expensive and less comprehensive but you could explore that and life insurance

You want to keep your work history current. My sister was a sahm , planned to return to work when her daughter started middle school and had young onset of our family mutation. She got no ssdi and no medicare because she didn’t have enough current work credits even though she had worked since 15 until childbirth

 

[alsnewbie]

Hi Nikki,

Thanks for your reply. It is extremely helpful! You are correct, I haven't looked at the mutation yet. I come from a science background and initially I thought I would want to know to stay updated on research, but I'm also worried I'll obsess over it. Is there a best way once you know the mutation to receive updated information? I'm worried if it is left up to me I'll be looking for new information too frequently. Apologies if this is an obvious question.

Your "With documentation of the mutation you could participate in research without knowing your own status." comment is very intriguing though.

Thanks so much!

 

[Nikki J]

Carrier studies are very important and the samples they collect are also stored and carefully shared with researchers who have to apply. They are particularly valuable in the search for biomarkers and early indications of impending disease.

The current prevention trial for sod1 is based directly on data from the preFALS study in Miami

There is currently a study called Prevent ALS which is the carrier arm of ALLACCESS ALS that is enrolling carriers and first degree relatives of FALS It is one in person visit and 2 remote visits a year ALL ALS PREVENT STUDY | All ALS. That might be one way to keep updated as you could ask during your annual visit

There is a FALS facebook group and also a few gene specific facebook groups

 

[alsnewbie]

Thank you!