My symptoms first started back in 2011. At the time, they were brushed off as “just one of those things” and I cruised along without further investigation.
It wasn’t until 2022, after a COVID infection, that everything changed. I had my first major flare and was suddenly very unwell. The fevers were relentless, the pain was intense, and I began to lose weight rapidly. I spent weeks in hospital and thousands of dollars chasing answers. Every possibility was explored: infectious disease, autoimmune, haematological, endocrine, even cancer. Nothing quite fit.
Recurrent pericarditis and severe abdominal pain became regular features. I was constantly presenting to emergency, often admitted, and constantly monitored. Eventually, after genetic testing and many specialist opinions, I was diagnosed with Yao Syndrome.
It took 12 years from the onset of my earliest symptoms and 8 months from the point things escalated. When I finally received the diagnosis, I felt relief. I wasn’t imagining it. There was a name for what I had been living with.
Since then, I’ve been on IL-1 inhibitor treatment through a public hospital program. I’m incredibly grateful to have access to it, although the six-monthly funding reviews are always stressful. I am also on Colchicine and a DMARD.
The hardest part is how the disease continues to evolve. We have learned that my SAA (Serum Amyloid A blood test) is my most sensitive marker and for many patients, this often isn’t tested for, unless they have an experienced doctor or know to request it. Even with treatment, I feel like I’m always managing the next flare or the next complication. It’s exhausting and I spend a lot of time in the hospital.
Yao Syndrome has impacted every part of my life. It’s taken a lot from me, but it’s also given me permission to slow down. I no longer feel the need to keep up with the pace of the world.
To the medical community: please listen to your complex patients. We aren’t difficult. We are just trying to live well in bodies that don’t behave the way they should.
If you’re just starting out on this journey, know that the team around you matters more than anything. Find doctors who listen. Lean on this community. Be your biggest advocate. Learn everything you can about your condition and stand firm in your symptoms, your experience, and what you need.
Kathryn, Yao Syndrome.