Beyond the Diagnosis: Celebrating the One-in-a-Million Child

It struck me last year that rare disease day falls on Rona’s half-birthday.

We did half-birthdays up: half a cake, half the presents, a birthday celebration in Rona’s classroom.

The year Rona was diagnosed, as we were finding our sea legs of what it meant to be living rare, there was a huge snowstorm on her actual half birthday, which meant we spent the whole day celebrating the things other than her diagnosis that made her unique.

I spend a lot of time sharing the story of what happened to Rona because it is relevant to my professional network (and this is a professional platform), but also because to share her as a person is sacred. It’s a space reserved for my closest friends and family.

The reality is that while Rona’s disease was rare, she was equally unique. Like her diagnosis, she was one-in-a-million with a smile that would light up the room, an inherent need to help the people around her, and the ability to find the good in everything. She was a joy bomb. Truly.

Rona was also one of the strongest people I know – and wise enough to know how unfair it was to be asked to rise to that bar at such a young age.

Rona was famous at the hospital for giving providers a death stare. “That’s intense,” one doctor said. “It’s like she’s looking right through me.” 

She once told a nurse who consistently struggled to place IVs, “You’re a really nice person, but you aren’t good at your job. And I need you to go find someone who is good at their job.” 

Kids who live rare have to grow up in ways that are so unfair to both them and their parents. When my friends struggle to broach hard topics with their kids, I feel a twinge of jealousy at the innocence their children are able to maintain.

And yet, when we were making treatment decisions and Rona’s doctor asked if we understood the potential consequences of transplant, my reply was, “If the worst happens, then she will die believing in the magic of Santa Claus and only ever having felt love from those around her.” 

Unfortunately, that is exactly what happened. 

We spent the last month of Rona’s life counting down the days to her birthday with daily hijinx from her elf on the shelf, Tinsel. Tinsel brought toys to play with, supplies to make edible tableaus, and lots and lots of pie shells and whipped cream Rona used to pie her parents in the face. That was her favorite activity.

While my little joy bomb’s lungs were failing in the PICU, we found moments that still remain some of my favorite memories of our time together, including a virtual birthday party complete with a dream cake, party dress, and party boxes packed and delivered lovingly to 26 of her friends for the day.

These moments of joy were so important for her, yes. But I think they were more important for those of us who loved her. 

When we treat a child, we are treating a family and – quite possibly – an entire community. Those opportunities to create joy and lasting memories are so critical. For some parents whose children never leave the hospital, they are the only memories they will have. 

So while we mark Rare Disease Day, I would encourage you to think about the people in your life navigating a rare disease and celebrate the things about them that you would as they blow out their (half) birthday candles. (Aren’t more birthday celebrations the ultimate reason we work in research to find new treatment options?)  

To celebrate the day means to celebrate what makes each child living with a rare disease unique, beyond the diagnosis. My niece and I will be making a half-cake today to celebrate. I’d encourage you to join us.