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Reflecting on lost abilities, and focusing on what cannot be taken away

graduation cap in airPart of the joy in raising a newborn baby is to document their developmental milestones. Parents affectionately catalog the first time their child rolls over, the first crawl, the first words, the first steps. In my own case, my mom kept a small journal that kept track of the day I achieved each of my new abilities for the first time.

As a baby, there was no reason to believe that someday my milestones would regress in the other direction.

At age 21, I pulled up after a short run because of tired legs. At age 23, I had trouble carrying a heavy object up a flight of stairs. At age 25, I experienced my first fall, followed quickly by my first panic attack. At age 27, I not only fell, but I could no longer get up on my own.

For the last eight years of my life I have experienced the symptoms of a rare neuromuscular disease called dysferlinopathy. What makes it unique among the muscular dystrophies is that its symptoms manifest in adulthood. For the first 21 years of my life I was asymptomatic. It was only because of a car accident in high school that I was tipped off that I had the disease, and even then I didn’t understand the full magnitude of what that would mean to my quality of life.

Over the last eight years (I am 29 now), I have become gradually weaker, to the point where today I am on crutches and am starting down a new life on four wheels.

It has been a difficult transition, psychologically and physically. I wasn’t a star athlete, but I was in decent shape. To go from ability to disability means that I now experience milestones that take the little things away from me that I always took for granted. For example, within the last two months getting out of a chair has become a multi-person operation. I just don’t have the strength in my legs anymore.

Part of the fear in experiencing these milestones is that I never know what I’m going to lose next, or how fast it will happen. Drying my hair with a towel and shaving without holding up my arm appear to be the next casualties, as my shoulder strength is rapidly declining. However, a devastating fall and a broken bone could mean the end of my walking days in the snap of a finger. It is a cloud of uncertainty that I have been forced to accept, but it unsettles me nonetheless.

The first time I saw a neurologist as an adult in 2009, he told me that there was so much variability in patients with dysferlinopathy that it was impossible to know for sure how fast symptoms would progress, and to what extent. When I pressed him, he told me that I would most likely be in a wheelchair someday, probably within the next decade. It was a traumatic appointment that left me with little hope as I walked out the door.

Seven years have passed since that day, and I have experienced many milestones since then. At first they were small milestones, losses where I could compensate because I still had a serviceable amount of strength. Now, they have been getting harder and harder to deal with, as my independence is gradually being taken away from me.

With a disease that forces me to constantly adjust to reduced strength, it is crucial for me to not give up on seeking out positive milestones. I have had to retrain my mind to focus on the positives in life, and although I am not an expert at this and am prone to bad days, I am up more than I am down. Later this month I will graduate with my MBA from Boston College, no small achievement for someone like me who has about 25 percent of the energy level of my classmates. In the last few months I’ve had speaking engagements in front of 400-500 people. These are the milestones I must focus on.

Additionally, all of this could not be possible without my family and friends. The greatest milestone for me was being born to the two best parents I could ask for.

If you're a doctor, especially since you're the one to break the news of the diagnosis or tell the patient that it's impossible to know what to expect, any encouragement goes a long way. Many diseases – muscle disease included – are a sequence of lost abilities. It's important to keep the patient focused on the milestones that cannot be taken away, or that can still be achieved. Doing so goes a long way, and it's something I wish I realized much earlier.

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories.

Chris Anselmo, 29, lives in Brookline, Massachusetts and is a second-year MBA student at Boston College, graduating later this month. Chris has been living with the effects of dysferlinopathy, a form of Muscular Dystrophy, since he was diagnosed at age 17; he first began experiencing symptoms at age 21. Chris is passionate about using his patient story to help others overcome adversity. Originally from Connecticut, Chris is a 2008 graduate of Northeastern University. Follow his journey on Sidewalks and Stairwells and on Twitter: @Chris_Anselmo.

Photo by bridges&balloons

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