As an activist and carrier of the fatal C90rf72 genetic mutation, I am enrolled in more than a dozen longitudinal studies of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Degeneration (FTD). I feel that it’s my job to make sure that my family members and friends don’t develop ALS or FTD. Also, my life could be cut short by either of these diseases. And I feel like the more people who enroll in research like this, the closer science is to finding a cure.  It’s my pleasure to do it, but it’s also hard.  I regularly submit to cognitive testing, to blood draws, to strength tests, MRI’s, skin biopsies, gut microbiome sampling, nerve-conduction tests, and spinal taps. Some of these more invasive tests are painful and dangerous. I also fly across the country at my own expense to participate. As much as I love taking part in medical research, sometimes I’m treated poorly.

1. After going through the challenges in 2017-2021, how has our relationship changed? 

I think we were both surprised by some of our actions and reactions, in a good way, and it brought more depth to our relationship. It was a lot of real-life stuff that interrupted the normal routine, so it was like going through an intensive, graduate-level course in our relationship. At the same time, we both found new passions at the end of that period. For Mindy it was participation in ALS research and activism, and for me it was buying property in the mountains and building the little cabin that I've always wanted. Ironically, these two things have resulted in us spending less time together, but not too much less, and I think we both feel very fulfilled. 

Lots of people ask me if there’s anything I can do to prevent the onset of genetic ALS/FTD. As a carrier of the C9orf72 genetic mutation, it’s something that I keep my mind open to. Science evolves quickly, and what’s considered healthy one day can be seen as dangerous the next. Since being diagnosed as a genetic carrier of a pathogenetic mutation, I’ve searched for a “magic bullet” that will protect me, but the reality is that there isn’t one. So, under the supervision of a nutritionist and of my neurologists, I’ve decided to live a brain-healthy life.

In Last Nerve: A Memoir of Illness and the Endurance of Family, I tell the story of what it was like to juggle the quadruple-threat of caring for my husband while he had lymphoma, nurturing my son as he struggled through high school, and watching my Nanee die of C9orf72 ALS. All while dealing with the diagnosis of being a genetic carrier of the C9 mutation. When I look back on the challenges of those years, it honestly feels like it was happening to someone else. I actually can’t believe that was me. I have a hard time wrapping my head around the fact that my younger son, Alex, weathered the storm as well as he did. And that Kirk, Ethan, Alex, and I are closer now than we ever were blows my mind. How did I do it? How did we do it?

You may ask, “So what’s all this talk about C9orf72?” and I have an answer. In layperson’s terms, too. Let’s start with the name.

This gene occurs on the chromosome 9, “orf” refers to open frame reading, which is where and how science nerds find it, in the 72^nd frame of the genetic sequence. Basically, if that gene is normal, the hexanucleotide looks like GGGCC. Most people have this code that repeats between 2 and 24 times. Someone with a mutated C9 gene has a code that repeats hundreds or thousands of times. This is called a dipeptide repeat expansion (mutation).

In a couple of months, I’ll turn 56. That’s about the average age when C9orf72 symptoms usually emerge in genetic carriers. I don’t plan to get ALS or FTD, and I still hold out hope that a cure will be available for me and my family before disease onset. God forbid, if I do develop symptoms, I hope I still get a chance to do lots of things.

I was recently in DC at an ALS Summit. The great thing about showing up to events like this is that I get the opportunity to meet people I’ve only seen on Zoom. ALS and FTD can be very isolating, so being able to put my arms around an old friend feels fantastic.

I travel a lot to cities around the country to talk to scientists about ALS. Some of the things they say about C9orf72 being the “low-hanging fruit” or the “key to the cure” make me really hopeful for the future of my kids and for my cousins. Two years ago, Qalsody (also called Toferson), a treatment for the SOD1 gene that causes ALS, began to show promise in patients with active symptoms. In the last year, some SOD1 carriers began to recover some function. The words “ALS reversals” were on everyone’s tongues. The medical community celebrated the first ever cure for a genetic form of ALS. This win makes me all the more optimistic for a future where nobody will have to suffer with ALS.

One of the most frustrating things about carrying the C9orf72 mutation for ALS/FTD is that the medical community sometimes overlooks me. Because genetic forms of ALS only make up between 10 and 15% of all ALS, genetic carriers are often excluded from the same medical care that sporadic ALS patients enjoy. For example, if I were a newly-diagnosed sporadic ALS patient, and if I signed up for longitudinal research, my clinic or research facility would look to me for upcoming drug trials. As a genetic carrier, I don’t have that option. Of the hundreds of drug trials of ALS treatments, there has only been one promising drug trial for genetic carriers of ALS in the fifty years since SOD-1 was discovered. And getting on an already-approved ALS drug in order to prevent symptom onset? Forget it. That’s an off-label use, and virtually no doctors will prescribe that for an asymptomatic patient. Given how many asymptomatic carriers there are, I honestly don’t know why we’re not included in trials.

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.