Rare Disease Day

Thank you for coming back, or for finding your way here for the first time. However you arrived—I’m so glad you’re here.

Photo by Author

It is Saturday.
In case you were confused because I usually don’t send out these newsletters on Saturdays. But today’s post is in honor of a calendar-locked awareness day so you’ll be getting two newsletters this week (this one and one tomorrow).

---

What awareness day is it?

For the uninitiated, the last day of February is set aside to honor people living with and alongside rare diseases and is called, as you might have guessed, Rare Disease Day. There are hashtags, colored ribbons, awareness campaigns, carefully chosen stock photos of smiling children in wheelchairs, copy text about resilience. The grammar of awareness is familiar by now. It asks us to notice, to learn, to care.

But as I sat down to write about just how rare she is, something else came to mind:

She isn’t rare at all

She is the opposite. She is ubiquitous. She is the single most present thing in my life. We are two folds in the same tablecloth at the banquet of life, tugging and smoothing the same fabric, spilling on the same places, living inside the same stains.

Rarity is a statistical category. It lives in spreadsheets, in prevalence rates, in the language of funding cycles and research pipelines. It belongs to the way medicine sorts and prioritizes bodies, the way institutions decide which lives get legible, which conditions get named, which suffering gets indexed. All of that matters. It shapes who gets help and when. It determines which clinics exist, which specialists you can see without driving three hours and taking a day off work, which questions can be asked because there’s a billing code to hold them.

But none of that is how she exists to me.

To me she is the sound of her breath at 2:13 a.m., the way the house goes still when a machine alarm cuts through a dream. She is the weight on my chest when her body is cold and needs to borrow my warmth for a while. She is the particular way her laugh breaks open a room that is otherwise heavy with unspoken fear. She is the choreography of tubes and medications and the small, fierce rituals of care that bracket our mornings and nights.

This isn’t to say there aren’t rare aspects of her. There are several: a certain genetic mutation; her wondrous talent for making conversation without making it entirely about her trauma; her complete inability to live de mauvaise foi; her penchant for bringing people together; her friends and family who have been willing to grow with us and learn how her life rigidly demands flexibility.

Her rarity shows up in exam rooms when clinicians lean in a little closer to the chart, when we become case studies by accident, when we are thanked for our “patience” because there is no protocol for this constellation of needs. It shows up in the way things like insurance systems, school districts, transportation requirements all assume a default body and then quietly fail anyone who doesn’t fit inside that template. Her rarity shows up in the assessment forms with boxes too small to hold the truth, in the phone trees that loop endlessly when you try to explain that your child’s needs don’t align with the options on offer.

It has been tempting these past six years to view her rare diagnosis as an obstacle. As an intrusive “something over there,” while who she really is lives “over here.” To tell ourselves that if we could just cure it, get around it, un-dam the damn thing, then maybe the rivers of our life would finally flow. As if there is a normal life stalled somewhere upstream, waiting for us to clear the blockage so it can arrive on time and according to plan.

Meanwhile many of the things we hoped for have not come to be, and many of the things we dread are now here.

This is the futility of a hope that is only oriented toward the life we were promised rather than the life we are living. This kind of hope can become a way of postponing presence. A way of loving some imagined future version of your child more than the child who is breathing in front of you right now. It can turn care into a holding pattern with mantras such as we’ll really begin once this diagnosis loosens its grip; we’ll really live once the system stops being so disorienting; we’ll really rest once the crisis phase is over.

But the crisis phase is no longer just a phase.

Her diagnosis isn’t something that happens to her. It’s just one community’s way of trying to understand just one facet of her existence. It is the language that medicine uses to speak about her body. It is not the language she uses to speak about herself. And when I confuse those two, I start relating to an abstraction instead of a person.

Parsing out her biological rarity, then, is a comparison game; and I have no great interest in doing that. Rare compared to what? Compared to whose body, whose baseline, whose imagined normal? Comparison is the thief of connection. It tempts me to measure her life against a statistical average and call the difference a catastrophe, rather than to meet the singularity of her being and call it a relationship.

Letting her diagnosis be just one part inside the imponderable bloom that is the Kartoffel allows for all that splendid ambivalence around holidays, milestones, and awareness days. It lets me hold gratitude and grief in the same hand without asking either of them to justify being here. It lets me show up to Rare Disease Day without needing to perform inspiration or despair, without seeking absolution for experiencing conflicting (or unpopular) thoughts and emotions.

There are days when awareness campaigns feel like a thin layer of paint over a cracked wall. On those days I want to ask what awareness does when it doesn’t come with structural change such as respite care, or accessible housing, or reliable home nursing, or schools that don’t require parents to become full-time case managers just to secure basic accommodations. There are days when “honoring” feels like a euphemism for noticing without altering the conditions that make life so hard.

And there are days when I’m grateful for the simple fact of being seen, however imperfectly. For the provider who says, “I don’t know, but I’m willing to learn.” For the stranger who doesn’t look away when my daughter’s body draws attention in public. For the small mercies of community that appear in waiting rooms and online forums, in late-night messages between parents who recognize each other’s exhaustion.

Her diagnosis is rare, and yet her Being-in-the-world has become the absolute foundation of my facticity. This is the ground of my life now. The systems I move through, the language I use, and the questions I ask – about what counts as care, about whose bodies are considered costly, about how grief and wonder can coexist in the same afternoon – have all been rewritten by the daily labor of loving her.

As we honor Rare Disease Day, I hope a growing community takes time to reflect on the ways our culture struggles to make room for bodies that don’t conform to its narrow expectations of productivity, independence, and ease. My deepest hope is that we change the way we treat care as a private burden rather than a shared practice; because the truth is, people living with medical complexity are not edge cases. Rare diseases exist amongst our neighbors, our classmates, our colleagues, our family, and our friends.

She is rare, precisely because she isn’t.

She is everywhere in my life: in the way I think about time now as something elastic, punctuated by alarms and appointments and the long, slow work of waiting; in the way I understand dignity as something that has nothing to do with efficiency or self-sufficiency and everything to do with being met where you are; in the way I imagine a good society as one that is built for the most vulnerable first, becoming gentler for everyone else.

On Rare Disease Day, I can hold the colored ribbon and the spreadsheet in one hand, and her warm, inconvenient, luminous presence in the other. I can honor the language of rarity without mistaking it for the truth of who she is. And I can say, with as much steadiness as I can manage: she belongs without qualifiers. Rarity is a framework for medicine and advocacy, not a measure of worth.

She is life, up close.

Until next time, stay safe, stay kind, and know that you are appreciated.

Cheers,
[kartoffelvater]

---

Some helpful links if you are so inclined (thank you Victoria for reminding me of these):

• What is a Rare Disease?

• Rare Disease Facts & Statistics

• Stories of those living with and around Rare Disease

  ---

Did this newsletter resonate with you? Let me your thoughts or share your own story. And if you know someone who might need these words today, please forward this along.

We wouldn’t be here without you. Every bit of support helps, and we appreciate it more than words can say!

I hope you enjoyed this post. Don’t forget to check out the original article over at The Courageous Parents Network, a fantastic resource for exploring the world of raising children with disabilities and rare genetic disorders. Be sure to visit their site for more insights!