Rare Disease Day 2020

Although Rare Disease Day (Feb. 29th) has come and gone, the afterglow remains. It is one of my favorite days of the year now, right up there with Christmas, Easter, my birthday, and any day when I have a fantasy baseball draft.

I always try to attend or take part in a Rare Disease Day event when possible. This year, I had the honor of participating on a panel with my fellow rare disease advocates at MassBio’s Rare Disease Day celebration on Friday, February 28th.

It was a whirlwind of a day, but tremendously gratifying. To be in a room full of rare disease advocates, family members, state representatives, industry and nonprofit leaders, and other stakeholders was an empowering experience. We represented dozens of different diseases, but shared one purpose: to celebrate those living with a rare disease and to raise awareness for the thousands of diseases that often are forgotten and overlooked.

I was glad my parents were able to attend the event. We had a health scare in the family a couple weeks ago and I was unsure if I would be able to go. But we made it work! Now that I live in this rare disease world, one of my favorite activities is to meet other rare disease advocates and family members. Everyone is so kind. We may have different disease experiences, but in many cases, the emotions we feel, the ups and downs, are exactly the same. These connections and friendships make living (and thriving) with a rare disease possible.

I talked to a lot of different people on Friday, but one interaction stood out for me. A woman came up to me after my panel, and began talking about her son, who lives with a rare disease. (He was not at the event.) Her son was in high school and didn’t have many friends, and he was struggling to open up to others about what he was going through. It was a new world for him, now that he had a diagnosis. She asked what advice I could give him.

At first, I blanked. What comforting words could I give in a moment like this? My mind sifted through memories from my past, about how I handled my disease when I was first diagnosed. I shouldn’t talk about that, I thought. If anything, that was an example of what not to do. My mind then shifted to a few years later, when I started to pick up the pieces and rebuild my life. Perhaps there was a learning there that I could share with this mother to help encourage her son.

The patient panel at the Rare Disease Day celebration.

Then my mind landed on a moment etched into my memory. Sometime in the early 2010s, I remembered standing in Boston’s South Station waiting in line to order lunch from a food kiosk. I had just started using crutches and was in a foul mood of sorts, for whatever reason. As I waited, I observed those around me in the bustling station and saw people from all walks of life slogging through the day. A homeless person sitting on the bench, staring at the ground. A man in a suit racing by, tie flapping, arguing with someone on the phone. A college student with a backpack looking nervously at the clock, waiting for their late train to arrive.

As I looked around the station, it hit me. We are all carrying burdens.

“I would say this to your son,” I told her. “It may not look it on the outside, but everyone is dealing with something. Everyone is struggling in some way.” Drawing on my epiphany that day at the train station, I told her that some challenges, like a disablity, are visible for the world to see, but for many others, their challenges are hidden deep inside, yet are just as debilitating.

Just because he had a rare disease didn’t mean that he was inferior to his peers. His classmates could easily be struggling with self-doubt, or anxiety, or depression. And when they grow up, they might struggle with their health. Or family problems. Job problems. Economic insecurity, etc. No one gets through life unscathed.

It is a theme I’ve talked about many times on this site, but it’s an insight that doesn’t come immediately to someone with a life-altering condition. It took me many years to realize this.

I thought about her son and what he must be going through. “I didn’t have my disease in high school, but I know what it feels like to struggle to make friends at that age,” I told her. “I always compared myself to my peers, and came up short. My classmates were insanely smart, and all my friends went to top-tier schools. And I was never part of the popular groups.” I couldn’t imagine having a rare disease at that age. High school was hard enough.

I realized I had talked for a while. I didn’t know if my advice made sense, or if I was still even coherent. She assured me it made sense, thanked me and went on her way. I didn’t know if my advice would solve her son’s problems, but maybe it would help him get one step closer to opening up about his condition with others and finding acceptance.

I hope someday he realizes that we all have equal value, and are precious no matter our differences. Disease and disability cannot touch our souls or who we are as people. They may make life more difficult, but difficulty doesn’t equate to meaning. Meaning is intrinsic.

Although it was a tough conversation, these are the connections I cherish, and is what makes Rare Disease Day such a special day. All throughout the room, strangers made new connections, learned from one another, and leaned on each other for support and advice. Friendships were made that will last a lifetime.

At its core, above all, Rare Disease Day is a celebration of what makes us human.




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