The Loudest Voice in the Room: How I Avoid Being Ignored

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.

Because carriers of genetic mutations like mine only make up about 10 or 15% of all ALS cases, many see us as extremely rare patients with an extremely rare disease. At End the Legacy, our organization for people impacted by genetic ALS/FTD, we did a study and determined that in the United States alone, there are probably more than 150,000 people walking around with genetic mutations that cause these diseases. Many of them don’t even know they have the gene because their family members who have or had ALS were never offered genetic counseling or testing.

Several years ago, when I was new to this ALS journey, I testified before the NIH and the FDA about what it’s like to carry a gene for a fatal neurodegenerative disease for which there’s no cure. One of the doctors from the FDA asked me if there was anything I could do to stave off illness. In the moment, I was offended. Shouldn’t I be the one asking him that question? I told him that there was literally no research on disease prevention. I also told him that I wanted to go on an ALS drug while I was still asymptomatic, but that there were no studies on this idea. So, I did the most obvious thing I could do: I asked a neurologist to put me on an ALS drug to see if I could prophylactically prevent disease onset. I’ve now been on Riluzole, the first ALS drug ever invented, for the last three years.

While I’ve never been shy about speaking my mind, I never realized how important it was until I was fighting for my life. It has always bothered me that when my mom was diagnosed with ALS, nobody offered her genetic counseling or a genetic test. Because she didn’t get tested, my own test was delayed by two years. For many people carrying ALS genes, this is the difference between bringing a child at genetic risk into the world and having a healthy baby who won’t develop ALS. It also rankles me to know that presymptomatic patients who have genetic mutations for ALS/FTD are not enrolled in clinical trials. It’s been reported many times that the earlier in the disease process ALS patients are put on interventional medication, the better they respond to it. For years, research facilities have tried to give ALS drugs to patients with manifest disease, only to learn that it was too late to help them. 

I find that the more involved with other advocates I get, the more I can talk about the injustices of being a genetic carrier of ALS. If there’s an opportunity for me to be a panelist of patients with a lived experience with ALS, I sign up without even thinking about it. If there’s a speaking opportunity, or a chance to attend a conference, I do it. A lot of these jobs are volunteer opportunities, and many of them don’t reimburse me for travel. I figure that I’m paying it forward. If I do the podcast, write the article, help plan an event, join longitudinal research, then there’s a better chance I’ll be heard. And that means that the genetic ALS community will be heard. And it also means that I’ll be considered for clinical trials, if they ever happen in the future. After six years of involving myself in all aspects of genetic ALS/FTD, people seek me out. On any given day, there are more than a dozen emails in my inbox, and half of them are from people asking me to participate in a meaningful way to end this disease.

In February 2023, I was contacted by the National Academies of Science, Engineering, and Medicine. This is a thinktank that’s been around since Abraham Lincoln, and they solve problems like preventing nicotine addiction and making the use of seatbelts mandatory. After the administrators interviewed me and 99 other people, I was chosen to represent the genetic community on an 18-person committee to make ALS a livable disease. This report that I worked on for 18 months and co-wrote with 17 other experts (including neurologists, pharma folks, pulmonologists, bioethicists) was submitted to Congress in June of 2024. It’s called Living with ALS, and I’m especially proud of the chapter about ALS prevention. The fact that I could meet with and be heard by some of the most influential names in ALS was a heady experience for me, and I felt humbled that I was only one of two people on the committee without an MD, PhD, or any other letters after my name.

In the last six years, I’ve also participated in 19 longitudinal studies of ALS and FTD. This is another way in which I advocate for the rights of genetic carriers of C9orf72. In my memoir, Last Nerve: A Memoir of Illness and the resilience of Family, I tell readers what it’s like to be a human guinea pig for research. By now, I’m pretty used to giving blood, urine, stool samples, cognitive testing results, EMG results, strength testing results, MRI images, and speech study results. In a typical month, I’m flying across the country to lend my bio data in the name of finding a cure. And I won’t stop until a cure is available for patients, for people at genetic risk, for my kids, and for myself.

On April 5th, 2025, I was honored to receive the Harvey and Bonny Gaffen Advancements in ALS Award from the Les Turner ALS Foundation. I’m sharing this honor with Jean Swidler, with whom I co-founded End the Legacy. ETL is the only nonprofit exclusively dedicated to the needs of people impacted by genes that are the cause of ALS and FTD. We didn’t win this award by sitting idly by and accepting that we’d die of neurodegenerative diseases; we won it by doing something about it. By speaking up against the injustices perpetrated by the medical system. By showing up, over and over. By being the loudest voices in the room.