Rare Disease Day Updates
More Than You Can Imagine
“Yesterday is today; the past returns; the future has already happened.” - Octavio Paz
by Jo Kaur, Founder of Riaan Research Initiative
(February 27, 2025) - I recently watched a movie about a man on death row. He said that on the day he was sentenced to die for a crime he did not commit, time froze. That he knew he was going to die soon, although he did not know when exactly, and therefore his life could not go on like everyone else’s.
When time stops, what happens? Richie often says something that reminds me of that man on death row.
The day Riaan was diagnosed, that’s when time froze. Yes, things continue to happen in our lives, but mostly they are stuck on March 12, 2021. It’s as if we’re constantly waiting for the axe to fall, and running around in circles trying to flee from it.
It can be overwhelming to ponder. These thoughts often emerge with a ferocity, along with the buds on the trees, every year as we approach Riaan’s diagnosis day.
We had an opportunity to explore these concepts with some very kind and thoughtful folks from UMass Chan Medical School on a podcast called Rare Diseases, Real Stories. If you can, listen to the 24 minute episode on Riaan here (we encourage you to listen to all six, tearjerking episodes.) It is an honor to be featured alongside some of the most incredible families we have come to know.
The podcast is also available on Apple Podcasts, Spotify, and other streaming channels. We are grateful to Sarah Willey, Jennifer Berryman, and Bryan Goodchild for bringing Riaan’s story to life for Rare Disease Awareness Month.
Tomorrow, February 28, 2025, the international community celebrates Rare Disease Day, a day that holds different meaning for all, but what I like to think of as the day we remind the world that there’s many people, including children, with rare diseases, and they’re loved, important, deserve high quality medical care, accommodations, and treatments, to be treated with dignity and love, and their lives are MORE THAN YOU CAN IMAGINE (the theme for this year’s Rare Disease Day).
“The more you try to avoid suffering, the more you suffer.” - Thomas Merton
I recently re-connected with a very old friend. He was trying to digest the news that I was a mother while also learning that my son has Cockayne syndrome. I could feel his nerves, his fear of saying the wrong thing, which is an understandable and common reaction to our situation. “I can’t imagine,” he - a father himself - kept saying. “I just can’t imagine.”
Then he asked, “What’s it like? Are you lonely? Is it very lonely to be in this situation?”
I appreciated the question. I appreciate any attempt by anyone to remember we are human too, and to engage with us on that level. I carefully considered his question, and then this is what I said:
“You know, it’s hard and it’s definitely lonely. But life is hard and lonely for everyone. We’re all struggling, we all feel alone. Everyone does. It’s very hard, of course it is. It’s hard knowing that it’s life-limiting. It’s hard watching the disease transform his little body over the months and years; it’s hard how much he hates eating, and to witness his beautiful, chubby face thin out over time. But the joys are so much more than you can imagine or ever know. Our life is not unhappy. We are very happy. We spend most of the day giggling, and laughing, and trying to live a lifetime in 24 hours. We go out on adventures, we do spontaneous, spur of the moment things. We’ve traveled. The other day, we decided to get out of town for a few days, booked a house, and hit the road. When we got there, our car became stuck in the ice, driving up a winding private road to the home. As it slid down the hill, my stress levels climbing, I hear Riaan’s loud, intoxicating laugh. Just a second ago, he had been crying and complaining. He thinks the sliding is the funniest thing. As soon as I hear it, a calmness settles over me. You see Riaan has this tendency to laugh out loud whenever something stressful is happening and it always eases the tension. Soon we were all laughing, his brother’s tears of annoyance also turning into giggles, and we got up that hill. Next thing you know, we’re snuggling by the fireplace, looking out at the trees and snow in the backyard. The moment felt magical, and we’ve had so many of those. So the joy? It’s so much more than you can imagine.”
This Rare Disease Day, I urge you, dear friend, to learn and spread the story of a child or adult with a rare disease, and to remind everyone: having a rare disease doesn’t mean you can’t and don’t live a full and glorious life. We’re all human, trying to do our best to squeeze delight from our days.
But yes. It’s hard. And lonely.
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25 Million Wishes
We are honored to be a part of a new and incredible effort by Rare Village Foundation to unite the power of the rare disease community, promote research and the development of treatments, and celebrate the 25 million children living with a rare disease in North America. Let’s make our voices heard this Rare Disease Day and beyond. Check out their site here, and submit information about your child if applicable!
Happy Rare Disease Day to all! Let’s make this year our most robust yet.