A philosophical reflection for those living in ‘rare disease land’

Written by Sarah Sinnett

For most of my life, late February has been the final exhale of the season of love, a time when heart-shaped boxes of chocolate dwindle down to the last morsel, in easy agreement with melting snowmen. As March approaches, we sense a lightness in the air: Spring is almost here! Some parents will pencil in reminders to pick up pies for Pi Day. Maybe they will check on the pending daffodils. Other parents will carry green sweaters home from the store so their little ones can dress up for Saint Patrick’s Day. Later, they will dash out again to buy tiny tubes of toothpaste for springtime travels. 

These are simple joys, year after year.

One year, something shifted. It took me a while to notice. I had unwittingly drifted away from the group of readers above and into a newer club of readers—a club that began in 2008. Some club members find themselves inhaling their Valentine’s Day chocolates as they count down to a bigger working holiday chock-full of science and remembrance: Rare Disease Day, observed on February 28^th or—the rarest day—February 29^th. For these readers, February’s last breath is a time spent with one’s heart and shoulders suspended by tenterhooks; and one’s grace lovingly stretched to its limits. The caregivers who love rare babies undoubtedly feel this way every day. Even so, when the pomp of Rare Disease Day returns, there is a risk that the spectacle will hold one’s attention like the fresh zing of an alcohol wipe applied to a deep and everlasting papercut. The tenderest feelings warrant bigger heart-shaped boxes of chocolate. 

Pi Day? Saint Patrick’s Day? Never heard of them. Pass me the last orange cream from the chocolate box. 

This carol is for the readers pinned up by invisible tenterhooks. You are a community of caregivers, trainees and faculty. You live in a land that is close but out of sight from the ordinary world. You have healthy babies and rare babies, of all ages. Some of you have spent your best years inventing investigational therapies and you have moved the needle beautifully. 

Reader, you are someone’s baby, too. Whether you are unwell or healthy, you deserve a soothing word as February melts into March. After all, rare disease land gobbles everyone inside. I wish I could wave a magic wand and heal your rare baby. The best I can do in this single moment is offer two medicines to dull your aches. I can offer medicinal bitterness in solidarity with your anguish; and preservation by pen, so you will never fade from memory. You were here and you mattered.

Dear caregivers: 

You may wake up early on Rare Disease Day, ready to jot notes during annual meetings hosted by faculty. You are determined to find a cure for your baby, even if you must fund the research. After you scroll through slide decks and screenshots, you may feel inspired to chase a lead… email the liaison for a clinical trial… ask about enrollment… only to learn that your baby was born a little too early or a little too late to qualify. 

True, the liaison responded accurately, sweetly and professionally. Yet you struggle with the knot in your stomach. I wish the liaison could loosen up for you. Maybe the liaison is not allowed to mirror your anguish. If you cannot enroll your baby, then surely you deserve raw empathy in lieu of fluffy corporate-speak. You found it here with us.

Dear postdoctoral scholars: 

Many of you had no luxury of choosing your favorite projects when you explored the research path fresh out of college. Then you earned your PhD, followed the funding and accepted the first job offered. Now you have settled into your latest research project, and you realise: it is suddenly pleasant to work late into the moonlight. How did that happen? Dare I say it— you may be starting to love research. You did not know about this rare disease nine months ago and now you wonder if you found your purpose in life. 

You will present your research at a Rare Disease Day conference and attendees will nod along enthusiastically. You are killing it! As you talk about future directions, you will briefly discuss the final figures pending for your mentor’s next manuscript. That is the moment you pause as you look at the audience. A flicker passes over a few faces—not all faces— just the influential ones. When the audience applauds after your final slide, you wonder: Did something just happen?

In a “post-mortem” chat with colleagues, someone will remind you that some listeners care only about cures, not manuscripts. Other listeners care about both. That is when you learn a lesson. Working in rare disease land is like walking through a field of landmines and daffodils. The landmines are truths we conditionally restrain. The daffodils are truths we say freely. Although your mentor will try to protect you, you will eventually have to step on a few landmines to identify all the quiet truths. Yes you should publish, but there is a time to talk about this, and a time to refrain. 

As you grow with your project, you will understand that your peer-reviewed publications stabilise a system of checks and balances. Your papers facilitate informed consent for clinical trials and protect families. On next year’s Rare Disease Day, you will gracefully skirt around landmines and describe your scientific research with finesse. An industry representative and a professor in the audience will gleefully give you two thumbs up. Then you will go home and eat the entire box of discounted Valentine’s Day chocolates you have been saving since February 15^th. You will fall asleep on the couch and dream of happy chubby babies.

For the clinicians and research faculty: 

With each passing February, your life may feel more and more like a Charles Dickens novel. Oh dear, you may be turning into Ebenezer Scrooge. You wince as you review accounting’s monthly report. You must ask your administrative assistant to reverse a five-figure billing error. You cancel a few meetings to finish another grant application. 

After you lock your office at night, you will peak inside your lab and see your employees huddled together, fixing a vibratome. You tiptoe away, thinking: I was you, once upon a time… I’m so proud of you for fixing the vibratome. When you get home, the last snowflakes of the year will gently fall. You will look up to the leaden sky and hope that the ghosts of February past, present and future will visit you on the eve of Rare Disease Day. You forgot to buy Valentine’s Day chocolates again and your life needs to change. 

Another Rare Disease Day will pass and some of you will stay at your university. Small victories will uplift you. A former employee will email you, writing the kind words you so dearly needed. Your former sponsors will like you again. It feels like everyone is on the same page now. Sometimes the people in our lives say sorry-thank-you-we-love-you through their actions. Right? 

A few of you will surpass expectations and achieve tremendous milestones. You wrote a useful DNA sequence! Your patients are doing well! Those weekends in the lab were worth it! 

Then, you will resign… 

Like many others in rare disease land you earned a Purple Heart. Your responsibilities were heavier than your friends ever knew. You saved the day more than your colleagues ever knew. Now you need to rest for a season. Here is another quiet truth in rare disease land. Sometimes big hearts give out soon, but if they rest for a while they can recover and chug along once again. 

For those of you who leave academia, the first day of your new life outside rare disease land will remind you of the ‘The Lion, the Witch and the Wardrobe’. Years ago, you started your research journey as a wide-eyed soul who stumbled into Narnia. You fought the White Witch with the help of your siblings. You grew up in Narnia and forgot that there was another land beyond your kingdom. Then one day you passed back through the wardrobe and entered the ordinary home of your childhood. You are not a King or Queen of Narnia anymore but you do feel like a kid again. As the weeks go by, you learn to sleep again with ease. Your curiosity bubbles up anew. Some days, you open the wardrobe door an inch to peek inside and wonder: Maybe I’ll return to Narnia next February, or perhaps the February after that? My appetite is back and I can taste the chocolates already….  If CS Lewis can write another chronicle, then surely you can, too? Tonight, however, you must sleep. You dream of Narnia babies.

For the Rare babies: 

Many of you are not yet able to read this Inventor’s Carol. Many of you are too small or too weak. Your parents will watch over you with deep and everlasting love. You are in our thoughts before we fall asleep at night. You float through our dreams. You return to our thoughts when we wake up. May your hearts and minds be filled with ease and light—if not today, then very soon…

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