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Rare Disease Day 2024

Today's Rare Disease Day. There's sometimes a particular weightiness to life with a rare disease. All the appointments, emergencies, traumas, doctors, therapists, medicines, opinions, schedules and upset schedules. My touchpoint is being mom to my precious girl with Wiedemann-Steiner Syndrome (WSS). You'd have to spend a day or week shadowing me to know what it's really like. Doesn't that sound alienating? As though you couldn't possibly imagine if you're not living it? Well, maybe. But think about a time of immense grief you've lived through, or a time when your world seemed to be falling apart around you and it felt like everyone else was completely unaffected. I suppose it's a bit like that. You might have thought that those around you couldn't possibly know how that experience felt to you.

A couple weeks ago, I started keeping a list of all the extraordinary things that happened in my life due to my daughter's rare disease. I learned a couple things that led me to stop keeping the list:
1. Just writing it down was exhausting.
2. I was writing down the extra hard stuff and missing the extra joyful stuff.

So here's what my daughter shared with her class today about her rare disease: "WSS makes [me] smart, kind, and helpful!" It's true! She picks up on the social undercurrent of a conversation earlier than most. She sees the people on the periphery and brings them right into the middle of things. She like to practice cracking eggs for breakfast. I'd add that she loves to dance with abandon, and hand out her autograph, and sing out loud, and eat at her favorite restaurants, and call her special people, and snuggle in the morning, and listen to audiobooks while she falls asleep, and persevere, always persevering. Life requires a lot of her (like her tooth extraction today) and she gives a lot. She encourages those around her to give -- of themselves, their time, their own perseverance. Thank you, Miriam, for being here among us!

Dreaming rare dreams last night, I envisioned gathering people outside of the traditional platforms many of us use. Perhaps it'll be a place for in-real-life contact, perhaps a place for curated, authentic conversation (all the buzz words). Wherever it heads, if you want to be a part of it, sign up here.


Liz H said…
You’re inspiring, Sarah! Thank you for sharing your thoughts and for being you.

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