The Gene Doesn’t Define Me: Where I’m Missing Out
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.
Another place where I fall through the cracks in medicine is with insurance. GINA (the Genetic Non-Discrimination Act) prevents insurance companies from revoking my basic healthcare, but I cannot get long-term care or life insurance if I know I’m a carrier of the C9orf72 mutation for ALS. This is an obvious problem because, as a future ALS patient, I’ll need long-term care more than anyone! My mom had to pay out-of-pocket for everything from a power wheelchair ($25,000) to in-home private duty nurses because Medicare doesn’t pay for that, and she had no long-term care. And it’s especially awful when I think about my kids. Before they get any genetic testing done in the future, they’ll have to secure life insurance and long-term care insurance, and they’re only 21 and 19. Do I start paying into long-term care and life insurance for my kids, when I know that symptom onset in C9 mutation carriers is generally between 50 and 60 years old? If GINA were expanded to include disability, long-term care, and life insurance, I wouldn’t have to worry about it.
In addition to these missed opportunities for me and my kids, there’s still not a standard of care for genetic counseling of offspring of ALS patients. For example, when my mom was diagnosed with ALS, I already knew it was genetic. My grandfather died of it. But when my mom advocated for herself and got her genetic test, nobody asked if she had kids, siblings, cousins, or grandkids. This was a huge mistake on the part of her neurologist. The genetic counselor should have been offered to me and my relatives, just as it was offered to her. Had I been given the correct information, I would’ve joined a longitudinal study immediately, which would’ve guaranteed my anonymity when I tested. Instead, I paid $2500 out-of-pocket to do a send-in test, and my genetic status ended up on my medical record.
Because genetic carriers of ALS/FTD only make up a relatively small number of cases, we’re often overlooked by ALS organizations. One of the most powerful ALS organizations – who shall remain nameless – has trained staff support for a legislative team, a clinical trials team, a many shades of ALS team, a veterans’ team, a peer mentor team, a thank-you squad, and a writing club. But not for a familial team.
Some friends of mine and I decided to create a familial ALS/FTD organization called End The Legacy (at www.endthelegacy.org). We’re made up of genetic carriers, our families, and our caregivers. We’re celebrating our 2-year anniversary of meeting online, and it will be a celebration of the things we’ve accomplished as a group: testifying before the NIH and the FDA, speaking to members of Congress, working with the National Academies of Science, Engineering, and Medicine, attending and presenting at countless ALS conferences, supporting our peers, writing articles for medical journals, and general community-building. We have hundreds of people on our mailing list. How do we know all of these people? Because we sent out a survey to our active members and did a study of how many genetic carriers of pathenogenic variants of ALS/FTD there were. Although people overlook us, we found that there are more than 154,000 people living in the US with genes that cause ALS and FTD, and most of them don’t even know it.
It's a tough time to have ALS or FTD. It’s even tougher for genetic carriers for these and other neurodegenerative diseases. Funding for organizations like the NIH and for research institutions in university settings has been rescinded by the current administration. With an anti-vaxer in charge of our country’s medical system, the chance of getting mRNA vaccines to fix genetic mutations like mine is next to nothing. I have friends with active ALS who were enrolled in research at Mass General (Harvard’s medical school) and who were pulled off the experimental drugs they were taking, all because the administration pulled Harvard’s drug trial funding. They will die much faster now.
One of the beautiful things about my being in so many longitudinal (observational) trials is that someday, once we have a compassionate leader in charge of our country again, I’ll hopefully be considered for a presymptomatic study. I have hope for this because despair only makes my demeanor worse. I have to keep hope alive for my kids, for my family, and for the thousands of other asymptomatic carriers because it’s clear that nobody else will. The insurance companies don’t care about me any more than the medical system does. ALS organizations don’t have the bandwidth or foresight to think that by solving genetic forms of disease, we may be able to cure all forms of ALS.
On May 8, 2025, I met with California Representative Jered Huffman and urged him to think about expanding GINA to long-term care insurance, life insurance, and disability insurance. To read more about my fight against genetic ALS/FTD, please visit my website, www.mindyuhrlaub.com and buy my new book, Last Nerve: A Memoir of Illness and the Endurance of Family.