Getting the News: How I Moved Forward

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.

I had already put together the fact that we had a familial cause of ALS because I knew that my grandfather died of it before I was born. I also knew there was no cure for ALS. Was it possible that I carried a gene that caused the disease? Could I pass this on to my kids? Was there even a genetic test for ALS? I decided to get some answers about this causative agent that I knew little about. I Googled the term “neurogenetics” and the name of a neurologist at Stanford popped up. She had written a few articles about genetic ALS, so I figured I’d pay her a visit. I made an appointment to see her. She ordered a genetic test for me and collected some blood.

Then I learned I carried the same ALS gene that caused my mom’s disease. The C9orf72 mutation could cause ALS or Frontotemporal Dementia (FTD). Because I carried the gene, I’d likely develop one or both of these diseases.

The fact that I could develop ALS barely registered with me. I had other things to do. I had to support and care for my husband, who had cancer. I had to fly across the country once a month to be with my dying mother. I needed to make sure my older son could eventually come live with us. And our 12-year-old was the only other “healthy” person in our house. He and I would have to lean on each other, which made me uneasy, since he was a kid and I was the parent.

What did register with me was that I could pass this gene down to my children. About two years later, once my husband was healthy, I finally had the bandwidth to think about the C9 gene. I knew I needed answers. I knew I needed a community. And once I started looking for a community, I realized that nearly nobody online was talking about Genetic ALS/FTD.

One in 400 people will be diagnosed with ALS during their lifetime. But of that one in 400, only 10 to 15% of those cases are genetically inherited. That means that 85 to 90% are sporadic. Because the genetic community is a relatively small number of people among patients with a rare disease, we’re often overlooked by research. 

There was a small group of genetic carriers in a group at I AM ALS (www.iamals.org), and we met online once a week, but there was no other place where people like me could talk about the struggles we faced as genetic carriers of fatal, neurodegenerative diseases. By the time I found the Familial Team at I Am ALS, my mom had passed away. It was 2020, and Covid was upon us. Nobody was recruiting for longitudinal research because people couldn’t travel to participate. I knew that the only way to cure genetic ALS/FTD was through science, so I put myself on as many waiting lists for observational studies as possible. To me, that was the only way to move forward. I couldn’t just let an unseen ninja of a disease just lurk under my bed. Every fiber of my being said, “Do something.”

I knew that lots of people from Familial ALS families decided not to pursue genetic testing. Sometimes, it’s just too stressful to know the truth. But for me, after seeing my mom die of ALS, I was determined not to let my kids go through caring for me as I lost the ability to walk, eat, and talk. I also knew that if I enrolled in observational studies, I’d be closer to researchers who may enroll me in interventional trials. And if they could prevent my disease, they could prevent it in my kids, too.

Since then, I’ve enrolled in over a dozen longitudinal trials and one interventional trial. Because I put myself on researchers’ radar, I’m very connected to medical centers around the country. And in 2022, the Familial Team at I Am ALS formed our own organization. We’re called End the Legacy (www.endthelegacy.org), and we’re made up of people from genetic ALS/FTD families. We also have several members who are (or were) caregivers of people with these genetic mutations. Together, we advocate for the rights of genetic carriers, host webinars, and often are called upon to testify before government organizations. 

Since 2021, I’ve testified before the NIH, the NINDS, and the FDA about patients’ rights and access to life-saving treatments. And in 2023, the National Academies of Science, Engineering, and Medicine nominated me onto an 18-person committee to write the report Living With ALS. I worked for 18 months with researchers, medical practitioners, bioethicists, and pharma people to put together a comprehensive document about making patients’ lives easier. There’s a chapter on preventing ALS, and my input on genetics features prominently into the section. The report was published and submitted to Congress in June of 2024.

By putting myself out there, by making a community for myself and becoming connected to policymakers and other activists, I’ve positioned myself in a place where people can find me. They can look to me for the answers I didn’t have when I was new to the Genetic ALS space. 

So really, when I look back on the news I received in 2018, the news that I carried the C9 genetic mutation for ALS/FTD, I realize it was probably the best thing to happen to me. In the face of medical adversity, my love for my family prompted me to become the activist I am.   

My forthcoming book, Last Nerve: A Memoir of Illness and the Endurance of Family, does a much better job at explaining this journey that I can in a short blog post, but I hope anyone facing a diagnosis of carrying a fatal gene will look to it as a roadmap from feeling hopeless to being empowered.

The book will also resonate with caregivers of cancer patients, family members of ALS patients, and parents of kids with behavioral issues. People who are simultaneously caring for children and parents will relate to some of the themes of Last Nerve. It also will appeal to doctors and researchers of neurological diseases. One doctor who wrote some advance praise for it said that it “serves as a reminder for medical professionals to treat every individual with compassion and respect, because behind every individual seen in research or clinic, lies a complex tapestry of arduous battles fought daily.”

Last Nerve: A Memoir of Illness and the Endurance of Family comes out on May 27th, during ALS Awareness Month and just in time for Lou Gehrig Day.