I live with Gorham Stout disease, an ultra-rare condition that causes progressive bone loss.

Gorham Stout is so rare that there are fewer than a few hundred recorded cases worldwide. Many doctors will never see a single case in their entire career. There’s no standard treatment, no clear pathway, and no definitive answers — just theories, case studies, and best guesses.

Recently, I found out that my condition has spread to my knee. And once again, I’m faced with the reality that defines life with something this rare: no one really knows what to do. You don’t fit into guidelines because there aren’t any. You become the evidence. The experiment. The lab rat. You wear the badge of being a human tester, whether you want to or not.

When new, unexplained pain appears, you’re often told “it’s just your condition” and expected to get on with it. There’s no investigation, no urgency — just quiet dismissal. That’s one of the hardest parts: learning to live with pain that’s acknowledged but not addressed.

I don’t often write about my suffering. What you usually see are the good moments — the laughter, the wins, the concerts, the baking, the days out. That’s not because the hard parts aren’t there, but because I choose to focus on living life to the fullest while I can. It’s how I keep going.

Living with a rare disease means constantly advocating for yourself in rooms where your condition is unfamiliar, misunderstood, or quietly Googled. It means repeating your story, pushing for care in a system built around common conditions, and carrying the emotional weight of uncertainty every single day.

This is why awareness matters. This is why advocacy matters. Rare diseases affect millions of people collectively, yet research funding and urgency don’t reflect that. Without visibility, nothing changes. Without research, there are no answers. And without answers, patients are left navigating trial-and-error medicine alone.

Rare does not mean invisible