My Journey with Myotonic Dystrophy
July 28, 2020
Myotonic dystrophy type 1 (DM1) is a rare inherited disorder that affects the organs and central nervous system, with symptoms including impaired mobility, myotonia, heart problems, difficulty with speech, breathing and swallowing, excessive sleepiness, and insulin resistance. The range and severity of symptoms as well as age of onset vary widely among patients.
DM1 is caused by a mutation, known as a nucleotide repeat, on the DMPK gene in which a certain genetic sequence is repeated tens or even hundreds of times. It is an autosomal disorder, meaning a person only needs to inherit one faulty copy of the gene to develop the disease. The number of repeats, and thus the severity of the disease, increases with each generation. There are no approved treatments to slow the progression of the disease.
Syros is working to develop a medicine for DM1 that decreases the expression of the faulty copy of the DMPK gene, while leaving the normal copy intact, with the aim of addressing the underlying cause of the disease.
To better understand what it is like to live with DM1, Syros sat down with Kade McCann, 21, to talk experiences with the disease and the journey of self-discovery it inspired.
Syros: Could you tell us how your diagnosis with DM1 came about?
KM: It began in the summer between my sophomore and junior years of high school, when I was running daily to train for the upcoming cross-country season. During my runs, I experienced severe abdominal pain and shortness of breath, and a few times I almost fainted.
I ended up seeing a neurologist at Boston Children’s Hospital who noticed I had myotonic clamping in my hands, where my wrists and hands curl and ball up tightly, plus weak neck and facial muscles and spinal curvature. I went through a grueling series of tests, which eventually led to a diagnosis of DM1.
The diagnosis was like getting a concussion; it turned my life upside down. I couldn’t run anymore, because heavy exercise in DM1 patients can lead to an elevated risk of kidney failure. I was afraid of the symptoms I might face, such as heart problems and losing the use of my legs.
Syros: Had you experienced other symptoms before the diagnosis?
KM: That was the silver lining of my diagnosis; it tied together some seemingly unrelated conditions I’ve had throughout my life, such as a speech disorder, a non-verbal learning disability, and cyclic vomiting syndrome. But because I didn’t experience any symptoms of myotonia until my teens, my doctors treated each of these disorders separately. It turned out all of them were related to DM1.
Syros: What are your symptoms like now?
KM: It really affects many parts of my body. I contend with daily GI issues that mirror irritable bowel syndrome, and eating anxiety because my vagus nerve signals early satiety and prevents me from eating. Because my facial and throat muscles are weak, my speech can be garbled.
The symptom that affected my everyday functioning the most has been narcolepsy. I was in a constant state of fatigue and felt like I was watching the world through a haze. I started participating in a clinical trial in 2018 for a medicine to manage narcolepsy in DM1 patients and that has greatly improved my ability to function alertly and be active in mind, body and spirit.
Syros: How do you manage your other symptoms?
KM: I have a regimen that I follow, to the best of my ability as a college student. I work out every day with light weights to maintain muscle mass, do calisthenics and ride a recumbent bike, which reduces stress on my back and joints. I also enjoy hiking. The two biggest things I monitor are my diet – avoiding too many greasy, sugary or salty foods – and my sleep schedule. I go to acupuncture for pain management, stress reduction and an immune system boost.
Overall, I feel I am managing my DM1 symptoms and leading a fairly normal life.
Syros: What is your family history with DM1?
KM: My dad is the DM1 carrier with 60 repeated mutations. DM1 has a 50% chance of autosomal transfer with a multiplying factor of 6 so I have 360 repeated mutations. We don’t know which of my paternal grandparents had DM1 as they had both passed away by the time of my diagnosis. It wasn’t until after I was diagnosed that we found out my dad had DM1.
He had always lived an extremely healthy lifestyle. He was a long-distance runner and played A-level tennis. But around the time I began experiencing symptoms while running, he developed afribrillation and his heart issues continued to progress over time. In addition to the fact that he didn’t develop symptoms until later in his life, my dad and I also vary greatly in symptoms.
Syros: You were diagnosed with DM1 at a time when most teenagers are thinking about what’s next after high school. How did your diagnosis affect your plans and dreams?
KM: I have always loved animals and been very passionate about wildlife conservation. But after my diagnosis, to the shock of everyone, I decided to study biomedical engineering because I was thinking, “I have to do something about my condition.” I believed it was incumbent upon me to work on research related to DM1 to serve other DM1 patients. Even if I wasn’t the one who found the cure for my disease, I wanted to contribute.
But studying genetics and biomedical science every day forced me to think about my diagnosis constantly. This led to feelings of loss for the person I had been and created fears about the future. At the same time, I was living away from home for the first time in a suite with five other guys. I didn’t have the physical stamina to keep up with my roommates. My diet and sleep patterns weren’t healthy. I started struggling with depression and anxiety.
I realized I had to learn to separate myself from my condition. While I have DM1, it does not define who I am. The best way for me to live a healthy and full life is to follow my passions.
So, I went back to my first love, zoology, and now I am pursuing a career in animal science. My mental health has greatly improved; I am back to the old Kade that I was, before the diagnosis, but with more years of experience and the awareness that I have to take care of myself in certain ways. I’m looking forward to a career in animal science and global conservation.
I am discovering who Kade McCann is meant to be in this life.