One of the toughest conversations I’ve had about my genetic status as a carrier of the C9orf72 mutation for ALS/FTD have been with my kids, back in 2022. I’d been holding the secret of my genetic status from them for four years, until I knew they were mature enough to understand. Until I realized there was impactful longitudinal research that I could participate in. My kids were seventeen and fifteen.  Here’s how the conversation at the dinner table went:

When I found out that I was the carrier of a fatal gene that causes FTD and ALS, there were lots of things I had to navigate. While I didn’t have to modify my house with grab-bars and ramps yet, I still had to manage communicating with others about what it meant to carry the C9orf72 genetic mutation. In fact, I remember shortly after I found out that I was positive for the C9 expansion, I ran into a friend. He knew that my mom was sick, and that I’d been jetting back and forth from San Francisco to Ft. Myers, Florida to visit her. I was walking my dog, Dusty, near the open space near my home. He was walking his dog, too. After our four-leggeds became friends, he asked me what was new. I’ve always been a straight shooter, so I told him that I’d just found out that I carried the same gene that caused my mom’s ALS.

When I found out about my C9orf72 mutation for ALS/FTD, the scariest thing I knew about the disease was that research into a cure is underfunded. Most people think that ALS is an ultra-rare disease, but it’s much more common than people realize. In fact, Amyotrophic Lateral Sclerosis affects one in 400 worldwide. The first Ice Bucket Challenge in 2014 put ALS on the map for many people, but the majority of participants still don’t even know what ALS is. Back in 1939, when Lou Gehrig was diagnosed with ALS, the disease had already been around for hundreds of years. The surprising lack of information available about ALS is one of the things that keeps me up at night.

When I think back to 2018, it’s hard for me to remember what I did to take care of myself. I was so in the trenches of motherhood and marriage that I seldom sought traditional self-care. I wasn’t one to take lavish vacations with girlfriends, meditate or do yoga on a daily basis, or spend days at a spa. That said, I’ve always had a regular exercise practice. Since I ran on a track team back in 1987, I’ve gone to the gym and lifted weights, done cardio circuits, and sweated through core conditioning. Even when my family was falling apart, I hauled by butt into the gym and sweated at least four times a week.

Back in 2018, while my mom was battling a fatal neurodegenerative disease called Amyotrophic Lateral Sclerosis, my husband started chemotherapy for stage 4 lymphoma. We had two young sons, 14 and 12, and the older one had serious behavioral issues that had to be addressed in a therapeutic boarding school. I already had a very full plate.