Muscular dystrophy came for my vision first, although I did not know it at the time. On the second Friday morning of April 2020, I realized quite suddenly I couldn’t read out of my right eye. I could see, but I couldn’t distinguish words. In the bedroom, I asked my wife to place a book I had never seen on the dresser. With my left eye covered, I turned around and: nothing. The cover was blended like the clouds of a Bob Ross painting. Four days later, an ophthalmologist examined me. I hadn’t noticed anything wrong with my left eye (yet), but he certainly did. You have cataracts, he told me, in both eyes, at age 31.
Two months later, I started feeling this immense ache up and down my arms. Then I began losing strength in my hands, which I noticed while changing the oil in my car. With the wrench in my right hand, I went to loosen the plug on the oil pan, and my wrist and fingers felt like Jell-O. When I tried to let go of the wrench, my fingers instead curled toward my palm, contorting my hand like a claw. It was the same if I tried opening a jar or turning a doorknob.
Soon after, I noticed my jaw and tongue cramped up every so often, making it difficult to speak intelligibly. For a year I saw an orthopedist, and then physical therapists at the Johns Hopkins Hospital in Baltimore who put me through a month-long regimen of stretching activities to see if that would fix the problem.
When I knew the physical therapy wasn’t working, the orthopedist ordered an electromyography exam. These are tests that measure the electrical activity in your muscles and nerves, and are one way to determine if you have pinched nerves—which, for a while, I and the doctors suspected was behind my faulty grip. But when the doctor stuck a tiny needle into the skin between the thumb and wrist of my left palm, the unmistakable noise from the machine next to me was that of a dive-bombing plane. He told me it was a sign of some sort of mistake in the ions that enable muscle movement, and told me I would need to see a neurologist.
In December 2021, exactly 20 months after I first noticed problems, a Hopkins neurologist put me through the medical equivalent of a field-sobriety test. Walk on your heels. Walk on your toes. Walk heel to toe. Jump up and down on one foot. I told her about my eyes. I showed her my hands. She sat there, looking grave. We’d run blood tests to be sure, but she suspected it was muscular dystrophy, an incurable condition that attacks and breaks down the muscles.
That afternoon, I looked my wife in the eyes and tried to tell her what was going on, but all I could do was cry. My whole body puffed and stiffened; my face, red and twisted, was soaked like a sponge. A month later, five days before my 33rd birthday, a genetic counselor called me and confirmed the news. I have myotonic dystrophy, one of seven major categories of muscular dystrophy. About 40,000 people in the U.S. have my type of muscular dystrophy. Technically defining it is rather simple. It’s a degenerative neuromuscular disease. Progressive, in other words, meaning it will get a little bit worse every year. It definitely means I’ll get weaker over time. But whether it hits my heart, or shortens my life—well, that’s something no one can predict.
For three years now I’ve written columns for GQ on health and nutrition. I am just a reporter, but in that time I’ve talked to doctors who explained why vitamin D is so important for a functioning immune system. I’ve incorporated more slow carbs into my diet to avoid midday sugar crashes. I’ve realized the value of early screening for colon cancer. And I’ve stopped drinking coffee after 2 p.m. and eating after 7 p.m. to ensure I sleep much, much better. Better habits were a natural consequence of learning about this world.
This, however, was different, a condition without a prescription. No matter how much I optimize, how much I exercise, regardless of the foods I eat or the supplements I take, I can’t escape this diagnosis. What does being healthy mean when you know you can’t improve?
I’ve always been the type of person who needs to understand something before confronting it, even if I know my newfound knowledge won’t change anything. It’s one of the ways I can slow down my thinking and try, as best I can, to tackle a problem. When I was finally ready, that’s ultimately how I approached my diagnosis. Breaking down the name of the disease was my first step. Both words refer to distinct symptoms that have hit me over the last two and a half years.
Myotonic refers to myotonia, or the inability for muscles to relax after a voluntary contraction. This is how the neurologist guessed my condition. She cupped her fingers in mine and told me to pull. When we let go, her fingers snapped open with no problem. Mine, instead, kept moving toward my wrist until I made a fist I could not open right away. (That’s grip myotonia.) It’s in my face, too. A couple times every day, and especially in the morning, my jaw locks up and my tongue cramps, muddling up my speech. Think about the worst shot of tequila you’ve had, and recall your cheeks sinking in and your lips puckering. Now pretend you can’t move your tongue either. And then try to talk. Sometimes the effect is so great it makes what I say nearly impossible to comprehend.
Chewing food presents its own challenge. I can do it, but my jaw moves very slowly at first, until the muscles are warmed up enough. I found this out at Christmas a couple weeks after my neurology appointment, when I realized I’d been masticating a piece of turkey for over a minute. I’m pretty sure I have myotonia in my legs as well: If I sit for a while, and then get up, I sort of look like I’m marching with my opening steps before my stride kicks in.
Dystrophy refers to what I may experience over time. The word means the progressive wasting away of muscle tissue. Basically, healthy muscles get weaker, and then turn into collagen and fat, which is a departure from what usually happens. When you exercise, regardless of whether it’s running a few miles, lifting weights, playing sports, or just going for a long walk, microtears form in your muscles. Stem cells known as muscle satellite cells regenerate the damaged tissue in response. They do this by replicating: One cell makes myoblast, or the precursor to new muscle fibers, while the other stays behind to repopulate the pool of satellite cells. This is what’s responsible for the normal cycle of working out, feeling sore, and getting stronger.
In people with myotonic dystrophy, the normal process is disrupted. The pool of satellite cells is naturally smaller, and after muscle damage, those cells don’t proliferate as they should. In turn, the muscle doesn’t regenerate itself that well. New muscle fibers are smaller than they should be, and there’s some evidence of collagen and fat beginning to form. Now repeat, and you can imagine how more collagen and fat is deposited through the years.
I have the most common type of myotonic dystrophy, and the source of all of my symptoms comes down to a gene called DMPK. Genes are composed of long strands of DNA bases, and the DMPK gene is a series of C-T-G bases that repeat themselves. With few exceptions, having more than 50 repeats results in myotonic dystrophy.
People with fewer repeats have the mild form of myotonic dystrophy, and might never even know they have it (which also means that 40,000 figure might be much higher than it is). This is exactly what happened with my dad. The disease is genetic, but he didn’t suspect anything until I called him a year ago after I received the results of my blood test. (He and mom had their blood analyzed last spring; he has 68 repeats.)
The other form is called “classic.” I’ve heard and read various things. Some doctors say more than 100 repeats results in classic; others say the threshold is at least 150 repeats. I have 140. But I certainly have the hallmarks of the form: grip myotonia, dysarthric speech, cataracts, musculoskeletal pain, and disease that comes on in your 20s or 30s. The pain is concentrated in my arms and hands, which throb, spasm, or ache every day with varying degrees of severity. Some days I spend hours wearing compression sleeves on my arms. Some days, it’s fingerless compression gloves on my hands. I’ve noticed, too, that it’s more difficult for me to walk up stairs. And it’s the classic form in which weakness of the distal muscles (arms, hands, legs, feet) may lead to wasting.
Although I’ve had this genetic condition since I was born, it didn’t hit me until I was 31. The exact mechanism of the sudden onset of symptoms isn’t fully understood, but the best guess is that it’s related to simply aging. As Dr. Sharon Hesterlee, chief research officer at the Muscular Dystrophy Association, told me, “Your cell defense system just gets less and less capable with time.”
This brings us back to my busted DMPK gene. DNA is transcribed into RNA, and it’s RNA that is subsequently translated into proteins, one of life’s building blocks. This happens with my DMPK gene, but the RNA gets trapped inside the nucleus of my cells, which is not where it should be. Once trapped, the RNA becomes toxic, and acts as a lantern on a darkened porch. A separate class of proteins then gravitates toward the nucleus like moths to the light. There they become stuck. The result is that a whole bunch of other genes are not processed properly.
“It’s like a glue trap,” says Hesterlee. “The downstream effect is that it messes up a lot of different proteins and how they get produced.”
This is the reason why my muscle stem cells don’t work correctly. It also explains the myotonia, which is the result of an impaired chloride channel in my muscle cells. Muscle contractions happen when sodium and potassium ions trade electrons back and forth over channels. First you polarize, and get a positive charge on a muscle cell, and then you depolarize, as chloride ions help your muscles release. My brain’s motor neurons do the right thing: They send electrical stimulation to my muscles, and my muscles contract. But then my muscles hold the contraction longer than they should.
Other systems are also affected. That explains the cataracts, which, post-surgery, have left me hyperopic and in need of reading glasses. (An inconvenience, but only that.) I have hypersomnolence, which means I get sleepier than usual. (Some days I have to take a nap in the middle of the afternoon just to make it to dinner.) I may develop cognitive problems. I may develop insulin resistance, which will result in type 2 diabetes. There’s also a chance I might go bald, but now that I’m in my 30s, that was a risk I was already facing.
What does all of this come down to? Every year I see my neurologist, who evaluates my clinical condition. Every year I also see my cardiologist, because I have to diligently monitor my heart. My heart cells don’t generate electrical impulses as well as a person without myotonic dystrophy. So I could develop a conduction disease that impairs how well my heart pumps blood. I’ll require a pacemaker if I ever develop a dangerously irregular heartbeat. About one in four people with my condition end up needing one.
Last year I got my very first heart ultrasound and electrocardiogram. I was back at Hopkins this January for another ECG, which looked good. If I have a shortened lifespan, it’ll most likely be due to a heart problem. But many patients with myotonic dystrophy, even the classic form, live well into adulthood.
The call I got a year ago was something of a relief, in a way. I was glad to finally attach a name to my symptoms. For months, though, I couldn’t confront it head on. I would go to the website for the Muscular Dystrophy Association, click on a few links, and then frantically close out of the web page. I didn’t want to read about it. I was living with it every day. But when I decided to approach it as a reporter might, what I ultimately discovered was that the best way to deal with this is pretty close to what you might call wellness.
“It tends to progress. Unfortunately, that’s the nature of the beast,” says Dr. Andreas Barth, the Hopkins cardiologist who sees me and dad. “But it’s not like everything is predetermined. You can have a much worse disease course if you have a bad lifestyle.”
Managing this condition day by day relates to virtually all of the work I’ve already done for GQ. Regular exercise, drinking in moderation, eating foods rich in protein, fiber, and antioxidants. Because of what’s happening to my muscles, I’ve been instructed not to overdo it when exercising. (No marathons, but there’s no way I could run one anyway. And no lifting weights, apparently.) But on a practical level, I can keep myself as healthy as possible, even if I can’t get rid of the underlying condition.
Myotonic dystrophy also progresses slowly, and given my number of repeats, I will probably never need some sort of help to walk or get around otherwise. I’ve been trying to approach it with that perspective. This disease can be utterly devastating at a much earlier age. There are people with myotonic dystrophy who have hundreds of repeats and start developing symptoms in their teenage years. For people who have more than 1,000 repeats, they’ve had symptoms since birth.
And there is hope on the horizon. On paper, at least, we know how to treat myotonic dystrophy: Develop a really good antisense oligonucleotide. In mouse studies, ASO drugs, as they’re called, bind to the toxic RNA inside cell nuclei and degrade it, curing the mouse. There was even a clinical trial of these drugs in people about five years ago. The problem was the ASOs didn’t penetrate all that well into human muscles, so now doctors are working on better delivery systems.
For now, I know, I have to watch myself and see what I start to feel, when I start to feel it. This has been the frustrating part, because myotonic dystrophy is both immanent and enigmatic. I will only know what happens when it happens. For that reason, I still don’t know how to carry this, even though I know I don’t want it to determine every aspect of my life.
“It turns into a crazy game of trying to figure out if there’s somebody worse off, and there always is,” Hesterlee told me. “But it doesn’t take away from the fact that you’re dealing with this and how you’re dealing with it.”
I thought about that, and it made me remember a scene from last June, when my wife and I were celebrating our seventh wedding anniversary. By that point we had already dealt with a lot: having and getting over Covid, being outbid on seemingly every single house on the market, and then my medical news. We bought a bottle of sparkling wine, and as my hands cramped and clawed while trying to pry the cork out, I had an idea. I went out to the garage with my reading glasses, pulled open a drawer in my tool chest, and grabbed a pair of pliers. She held the bottle; I yanked at the cork. When it finally popped loose, I looked at my tightly gripped hands, the pair of pliers, and then her. This time, though, I laughed.
