With Trump in office, an ALS cure seems farther than ever

For almost a decade, I’ve fought for a cure for a disease I don’t even have yet.

In 2018, when my mom was dying of the fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS), I learned that I carried the same mutated gene, C9orf72, that caused her disease. That means I will likely either develop ALS or frontotemporal degeneration (FTD), another disease that is caused by the C9 mutation.

At the time, my husband was going through chemotherapy, and we also had two young children who needed me. I was so busy caring for others that it barely registered that I was at risk of dying of ALS. It broke my heart to watch my mom lose the ability to walk, talk, eat on her own, and be independent. And it hit me hard that I may have passed the gene to my kids.

I knew that science was my only way to fight the genetic specter that haunted my family, so over the next five years, I joined more than a dozen observational research studies of ALS and FTD. I put my faith in researchers and other activists and found reassurance in the promising treatments that the medical community reported. I celebrated when my husband beat cancer and told myself that if science could cure him of stage 4 lymphoma, it could help me and our children survive the C9 mutation.

With every spinal tap I suffered through and nerve conduction test I endured, I told myself that we were getting closer to a cure. When President Biden signed ACT for ALS into law in 2021, putting millions of dollars toward ALS research, I thought it would be a slam dunk. With friends, I co-founded End the Legacy, a nonprofit that supports genetic carriers of ALS/FTD and their families. Our community grew and grew. In a year, our numbers doubled. 

Then, in 2023, the FDA approved a new drug, Qalsody (tofersen), which was found to reverse symptoms of ALS patients with a different mutation called SOD1. This was the light at the end of the tunnel — a promise that a cure for the C9 mutation was on the horizon.

The entire ALS community celebrated. We all believed that once genetic forms were reversed, all forms of ALS might be, too.

That same year, an asymptomatic friend who also carries the C9 mutation enrolled at Harvard’s Massachusetts General Hospital in one of the first studies of a repurposed drug to prevent ALS in presymptomatic C9 carriers. Over the course of several months, he was given a drug called baricitinib, a powerful anti-inflammatory used for rheumatoid arthritis, to see if it could prevent ALS onset. He became a role model for all of us in the genetic ALS community, and our hope for a cure grew. Funding for critical research was paying off, and we eagerly awaited the results.

Then Donald Trump’s second administration began. Within six months, he’d slashed medical research at Harvard and other universities around the country. One of the researchers at Mass General who studies ALS was defunded. Even scarier is that ALLFTD, the most robust longitudinal research project for FTD to date, had to pause for six months because the Trump administration defunded its research. 

Two months ago, my friend with C9 who participated in the baricitinib research at MGH was diagnosed with ALS. I worry about his ability to access lifesaving research and treatments under this administration. I’m afraid that he’ll die before a cure for C9 ALS is discovered.

With researchers pushed to their limits after the funding cuts, symptomatic ALS patients are already being denied the benefits of research. Now I, along with thousands of other presymptomatic gene carriers, have no chance. 

My enrolling in so many observational research studies to find a cure for a fatal, neurodegenerative disease is a tremendous declaration of hope. It requires me to give energy, money, time, and trust in practitioners who have the same kind of hope. When those practitioners are taken away from patients, our pluck and determination waver.

 Alongside the slashes to research funding, I worry that other health crises caused by changes made by health secretary Robert F. Kennedy Jr. — like the rise in measles cases across the country — will overburden the health care system, making it even more difficult to get a diagnosis of ALS in a timely way. I’m also terrified by the long-term effects on scientific and medical research. Even before the funding cuts, getting new drugs or treatments tested, approved, and to the general population could take a decade or longer.

Watching my mom die of ALS was one of the most awful things I’ve gone through, and I don’t want my children to have to see me suffer like that. Far too many children have had that experience, including those of actor Eric Dane, who died recently. He was the face of an overlooked disease, and we in the ALS community miss him already.

As a genetic carrier, I’ve often felt like time is running out to find a cure for ALS and FTD in my lifetime. But until recently, I’ve always held out hope that a cure would be found for my children so they never have to experience what I watched my mother go through.

The second Trump administration has already had a devastating impact on medical research and lifesaving advancements for diseases like ALS. In the face of more funding cuts, I vow to get louder. I won’t rest until we have a viable cure for ALS patients, including the presymptomatic ones. My friends in the ALS community deserve it. My kids deserve it. I deserve it. 

Mindy Uhrlaub is the author of “Last Nerve: A Memoir of Illness and the Endurance of Family.”