Three Wishes: If my Friends and the Medical Community Knew

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.

My first wish is for medical practitioners to treat patient volunteers with more respect. Carrying a gene for a fatal neurodegenerative disease is stressful. We watch our grandparents, parents, cousins, aunts and uncles die off of one of the toughest causes imaginable: the loss of one’s functions. We know what’s in store for us if we don’t find a cure. And we worry about our children getting sick, too. We’re always watching over our shoulder for the specter of ALS or FTD.

Sometimes, when it’s time for me to visit a medical center to do an annual check-up (which, no doubt, includes awful, dangerous procedures) I receive a reminder letter or email which starts with, “Dear Research Participant,” and I just want to punch the wall. My name is Mindy. Or Mrs. Uhrlaub. I’ve likely flown or driven a long way to your research facility a dozen times by now and have donated parts of my body to you and your hospital! For fuck’s sake! Research Participant?

It also kills me when a doctor is in a rush. I’ve been told by a PI (Primary Investigator), “I’m really busy today. I don’t have time to see asymptomatic people who aren’t patients with active disease.” What? I’m here to make sure more people don’t get active ALS or FTD. The work I do now to prevent these diseases will make your job much easier later! Not to mention that it’s never “convenient” for me to get on a plane to do your excruciating lumbar punctures and EMG’s.

My second wish is that people treat me as a patient. This idea that I’m somehow “less than” galls me. Many people, friends and doctors alike, have said, “At least you don’t have ALS” or “At least you still have all your marbles,” and my response is that it’s like telling someone with high cholesterol that they should be lucky that they don’t have heart disease yet. I don’t really want people to give me sympathy; I just want them to understand that as a 56-year-old, I’m literally AT the average age of disease onset. I participate in more research than many patients. This is my life. 

It shouldn’t be such a big ask for me to want my friends and doctors to sit with me in this liminal space. I’m not symptomatic with ALS or FTD, but I carry a pathogenic mutation that can kill me. It’s not so hard to ask how you can help support me. Usually, I just ask for people to buy my book and review it on Amazon.

My third wish is two-sided. It’s for people (doctors and friends) to remember that C9orf72 mutations carry both ALS and FTD on them. I have just as much chance of developing both, either, or none of the above. That means that I could go nuts, become paralyzed, do both, or neither. I’m counting on neither, and I am not deficient right now. Some doctors seem to think that just because I have the C9 mutation, that makes me cognitively handicapped. I take an average of twenty cognitive tests a year, and none of them have said I’m losing my mind. I also do about twenty strength tests a year, and I’m apparently fine. 

In my book, Last Nerve: A Memoir of Illness and the Endurance of Family, I say on page 78, “As much of an ordeal it is to submit to testing, I know I’m making an impact on ALS research. Instead of feeling sorry for myself, I feel empowered. ALS is a disease that takes everything from patients. While I’m still asymptomatic, I still have control over the disease, and I can make choices about how I give my body to research…” 

That was written in 2018. Seven years later, I still feel that way. If friends and people in the medical community treat me with dignity, I’ll always feel like participating in medical research. I have skin in the game: my two sons. I’ve made it my mission to help find a cure for the C9orf72 gene because I don’t want my kids to have to see me die of ALS the way my mom did. And I don’t want them to get ALS or FTD either. 

Nobody pays me for my activism. Sometimes, researchers are disrespectful. Some of my friends don’t know how to sit with the news that I carry the gene for a fatal neurodegenerative disease. But truly, this desire to find a cure comes from me. And the way people treat me when I do it has no bearing on my participation. 

It’s okay to dream.