Creating meaningful change in disability and rare disease: Simon and Becs’ story

Simon: “I don’t mind being small, and I don’t mind when other kids have questions. I want people to know more about Morquio syndrome. But I don’t like when people ask if there’s something wrong with me. I have a rare disease, but there’s nothing wrong with me.”

Becs: “Simon was diagnosed with MPS IVA, or Morquio syndrome, when he was two. He has a twin sister, Isabel, and we noticed that Simon wasn’t growing as quickly as she was. It might have taken us a lot longer to notice the early signs of Morquio if we weren’t watching the two of them grow side by side.

We were fortunate that our journey to diagnosis was quick, especially compared to the long, uncertain paths many other rare disease families face. But everything that came after was wildly difficult. Our world was turned upside down. The complexity of navigating the health care system, uncertainty, and grief was overwhelming. Looking back, it’s hard to believe we ever found our way forward — but somehow, step by step, we did.

It was a challenge to get approved for access to the only Morquio treatment available. Simon was the first person in BC to need this expensive drug. We fought hard because we knew he deserved it, but the wait was painful. And when he finally got provincial funding approved, we had to reconcile that the drug was only a stopgap and far from a cure.

Enzyme replacement therapy helps slow the progression of the disease but doesn’t alleviate the burden of his bone disease, short stature, and associated pain and risks. Simon spends eight-plus hours every week getting enzyme infusions, and still has to deal with frequent orthopaedic surgeries, mobility difficulties, hearing loss, daily pain, and a world that isn’t built for little people.

And yet somehow he remains so resilient and positive. He has such a charismatic personality and he’s already making such a difference. Building a community of support. Fundraising for a cure. Changing the way the world thinks about people with disabilities. He knows that being different gives him an outsized opportunity to have a meaningful impact. 

It’s such a privilege to be part of his world.”