I had never heard of Rare Disease Day. Rare diseases used to be an abstract concept reserved for unfortunate people elsewhere. Now the 28th of February is marked in my calendar- an unusual date used to mark an odd day.
Our family is new to the Rare Disease community, and we don’t know the rules of this special day. I see people use it to educate the world about their condition. Some leverage the day’s global attention to fundraise for research into a cure for their syndrome. My research, which is hardly scientific, indicates that you don’t raise millions because it’s Rare Day.
I sat in a hospital ward on Tuesday and wondered how to appropriately honour the day of uncommon diseases. Ironically, Shaina was healthy and at school that morning. It was her brother, totally unaccustomed to hospital visits, thank G-d, who had to undergo a minor procedure.
I shared the irony with the doctors- how I had brought a different one of our children to the hospital on Rare Disease Day. “Oh,” one replied, “I heard someone mention rare diseases on the radio but didn’t know what it was about”. Her response sounded a shrill alarm clock on my daydreaming about “honouring the day.”
“Yes,” I wanted to say, “Dr X. what you heard on the radio was that we should give some air time to beautiful human beings like my daughter!”. The doctor was too busy scribbling notes on our son’s admission file to notice my need to tell her more.
Rare Disease is lonely.
Another family fussed over their baby in the pre-op ward. Their seven-month-old was due for yet another surgery. Nurses waltzed in to welcome little M and his mom back to their unit. The mother knew them by name and used the same casual “we’re back again” we’ve used on admitting Shaina to the ICU. I felt an immediate kinship and itched to compare notes on our children’s medical sagas.
Hearing the mom spell and re-spell the mouthful of a procedure her son had previously undergone sounded familiar. We often enunciate Beta-propellor protein-associated neurodegeneration for those who insist on asking what BPAN stands for. Mouth ajar, the listener usually says, “I’ll have to Google that”. I’m long past the days of “you probably don’t want to” because I’ve realised most don’t. Except for doctors. We feel a macabre joy at stumping medical professionals. “Oh, I’ve never heard of that” (not surprisingly, considering Shaina is the only case on the African continent). Then we wait for their shocked expressions as they read up on BPAN while we wait.
Once the nurse concluded her pre-surgery check on that baby, I’d compare notes with the parents on our children’s oddball syndromes. Before I had the chance, the surgeon walked in and cheerily welcomed baby M back for his third surgical procedure. The mom emphatically added, “And his last”. The doctor nodded and grinned.
It turns out we had little in common.
I don’t downplay the trauma of taking a newborn through multiple surgeries. The upside is that Baby M would spend a few nights recovering in the ward and then return home all fixed up.
Our doctors tell us, “Let’s make an appointment to see Shaina in six months’ time, although I’m sure she’ll be here before then”.
Rare Disease Day turned lonely.
With Shaina’s brother in surgery and Shaina on my mind, I started to think about how we should commemorate the uncomfortable day labelled in my diary.
Share the ugly details of Shaina’s condition on social media? Nah. Run a fundraiser for BPAN research? Shaina has one already. Chat with other parents on our BPAN support group? I didn’t want to dampen their Rare Day spirit.
Eventually, I decided to consider what Shaina would want for her day. The answer was obvious.
When we arrived home from the hospital with her brother all fixed up, I took Shaina by the hands, and we danced. I figured the best way to celebrate Rare Disease Day is to align with the spirit of the rare disease individual.