Chris Anselmo shares his journey with dysferlinopathy, a rare, muscle-weakening disease.
Be sure to share Chris’ story and join him and other rare disease patients on February 29th at the Massachusetts State House to recognize Rare Disease Day and the research being done in Massachusetts to treat and cure rare disease.
A Rare Diagnosis
It all started with a car accident.
Up until one fateful night in October 2003, I had no reason to think that I was living with a rare disease. For the first 17 years of my life, I was a healthy, active, fully functional high school senior with my eyes set on college and the next chapter in my life.
On that night, my friend was driving me home from the movies, when he became distracted by something he saw in the rear view mirror. For whatever reason, he thought the light had turned green. Seconds later, the car we were driving in was slammed into by a pickup truck traveling 45 miles per hour. Our car was a crumpled wreck, and the entire impact was on the passenger side where I was sitting.
It is a miracle that everyone involved emerged unscathed aside from a few cuts and bruises. It was a traumatic experience on its own, but it paled in comparison to the ordeal that was to come for me. Later that night, while I lay awake in my hospital bed, unable to sleep due to the pain on my right side, a doctor came in with news that would begin my patient journey.
I was in a haze from painkillers, so I don’t remember exactly what the doctor said, but I remember the concern on her face. The blood test I had done when I got to the emergency room came back with astronomically high levels of creatine kinase – a marker of muscle breakdown. Initially, they feared I had suffered some sort of internal injury, but it was ruled out after follow-up tests and I was sent home. Yet, in follow-up visits, the levels didn’t go down as they had initially hoped, which raised a red flag. Something was clearly wrong inside of me.
One year later, after testing for and ruling out liver disease, and after a biopsy of my left thigh, I was finally diagnosed with dysferlinopathy. It was explained to me that I was missing something called “dysferlin” – a protein that, if you don’t have it, eventually leads to muscular dystrophy. I was assured after initial fears that symptoms would not manifest until later in life, when there surely would be some sort of treatment. I was told to follow up with an adult neurology clinic, just to be safe, but it was nothing to be preoccupied with. I asked if I could go to college worry-free, and I was told I could.
Four years passed. I attended Northeastern University in Boston, and had a normal, exhilarating college experience. I was asymptomatic during this time, so naturally I let my guard down. I was naive, but in retrospect I am happy I was. If I fully understood the magnitude of what was to come, I would have been devastated. By May 2008, I had graduated from Northeastern with a degree in marketing. It was then that I began to experience weakness, as if a flip had switched inside my body.
With a muscle-weakening disease, you can tell when things are starting to “go.” You remember these indelible, traumatic events because they are seared into your mind. I’ve seen others refer to them as “milestones,” and unfortunately, it is a fitting metaphor. They stay with you, and no matter how much you want them to, they don’t go away.
My first milestone where I knew something was wrong was in late 2008 when I went for a run, turned a corner, and my legs tired out. I thought it was odd, but I didn’t think much of it. A few weeks later I went running again, only I couldn’t make it as far as my previous run. For whatever reason, I didn’t realize that it was because of my disease. I was only 22; it wasn’t supposed to happen until much, much later. I chalked it up as being out of shape, and figured that I just didn’t gain strength as fast because of this missing protein.
My second milestone happened about a year later, when I moved with my college buddies to a three-story house in Boston. I was carrying my desk chair up the stairs and was having great difficulty. I had to stop every few steps to regain my strength and balance. I remember it well, because it was at this point where I began to put the pieces together. I remember the unsettling feeling in my stomach, the joy of moving to a new apartment now replaced by anxiety and fear.
A year after moving in I experienced my first fall – by far the most traumatic milestone of my life.
It was a Saturday morning. I was walking to the store with my roommate, took a step, and my right leg gave out, causing me to crumple into a heap on the sidewalk. My roommate stopped and asked if I was OK. I told him I didn’t know, but that was a lie. I knew. The emotional pain that resulted was far worse than the physical pain of scraping my knee.
Falling and the sudden reality that I couldn’t get from Point A to Point B without the possibility of crumbling to the ground turned my world upside down. It affected my outlook on life and my relationships with others. It affected how I perceived my future, my attitude and my productivity at work. Every facet of my life suffered with this new reality. It was a terrible time.
Since that day, I have fallen countless more times, ruining every pair of jeans I’ve owned because I inevitably tear holes in the knees on the pavement. When I do fall, I need someone to help me, as I no longer have the strength to get back up. I’ve progressed to Lofstrand crutches and have given up going on long walks, which was very tough as I used to love exploring new neighborhoods in Boston. Stairs are my mortal enemy and can’t be navigated. As of the last few months, I can’t get out of chairs (unless it’s a high chair) without someone picking me up under my armpits.
Picking Myself Back Up
This has all been very difficult to deal with, as the dreams I once had for myself as a young adult have been derailed by unrelenting muscle weakness. Despite the trials and setbacks, this disease taught me an invaluable skill – how to pick myself back up. Without learning resilience I would have given up on my future.
One day I had enough. I came to the conclusion that I wasn’t doing myself any good by being miserable and comparing myself to others my age who seemingly had everything. I sought a way to use my experience as a positive. Through sheer determination, a fire was kindled inside of me to make a better life for myself than I would have had without the disease. I sought ways to get involved and make a difference in finding a cure.
I became more involved with the Jain Foundation, an organization dedicated to finding a cure for dysferlinopathy. I was given the opportunity to share my patient story at the International Dysferlin Conference in April 2013, a huge thrill that cultivated my passion for public speaking. From connections made at that conference, I was introduced to three researchers in the Boston area who have family members with muscular dystrophy. In November 2014 we hosted the second annual Strength, Science and Stories of Inspiration fundraiser at the MIT Museum in Cambridge. It brought together stakeholders in the muscle disease community, and I had the opportunity to share my patient story in front of 200 people. It was the most rewarding night of my life.
I still struggle with the effects of my disease. I accept that I am always going to be “day-to-day”, both physically and emotionally. Any time I experience a new milestone, I regress into a funk, but I have risen every time. Although some dreams are unachievable, I haven’t let my disease stop me from dreaming big. After years of shuffling my feet, I returned to school, and am currently an MBA candidate at Boston College, graduating in May. It has been a long, strange, difficult journey. Through continued funding and research, I know that brighter days are ahead.
Dysferlinopathy has given me a clear purpose for what I want to do in life – to use my story to help others. A purpose for living is incredibly powerful, and I know that without this disease, there is no way I would have the ambition and determination I have today. I am beginning to experience the fruits of my struggle (it is about time!), and that has given me great joy. I have my first speaking engagement at a high school in Connecticut in late February, and four days later will be speaking at Rare Disease Day at the Massachusetts State House.
I always think that someday this will all be worth it, but I am starting to realize that day is already here.