Coming of age with XLH

Alice's story was included in Canada’s Rare Voices 2023.

_“I’m spontaneous. It’s right in my genes. 

I’m the first person in my family to have X-linked hypophosphatemia (XLH). It’s usually a hereditary disorder, but my condition was caused by a spontaneous genetic mutation.

Having a rare genetic disease with no family history is a recipe for a difficult diagnostic journey. Even when I was just three years old, it was obvious that something was up. My legs were different from other kids'. I was having trouble walking. I wasn’t growing as quickly as my peers. And I wasn’t sleeping well. Still, my family doctor didn’t think it was anything serious. My mom had to advocate for me persistently, going to appointment after appointment before we eventually secured a referral to SickKids, where I was finally diagnosed.

And, once we had the diagnosis, that’s when the real journey started — the around-the-clock phosphate supplements, the surgeries, the exercises, and the flights back and forth to the States to be in a clinical trial. I did love the flying part, though.

The three great passions of my life are aviation, dance, and agriculture, and all three of those have a kind of root in my illness. My love of airplanes was first sparked by all the air travel I was doing getting to and from the clinical trial. My involvement in highland dancing began as a way to get exercise when I was very young and we still didn’t know what was wrong with my legs. And it was through my dancing friends that I discovered the youth organization 4-H and the joy of working with animals. I’ve been showing sheep since I was nine years old and I never stopped. I’ve got a lamb and a beef cow that I’m getting ready to show right now.

"The three great passions of my life are aviation, dance, and agriculture, and all three of those have a kind of root in my illness."

And so, as I get closer and closer to finishing high school, I’m struggling to decide whether to pursue agriculture or aviation as a career — all while also trying to navigate the transition from pediatric to adult care for XLH. I’ve gotten so used to the team at SickKids and how everything there is so self-contained. Now, as an adult, I have to coordinate with so many different specialists, making different appointments at different clinics and hospitals. My treatment course is changing as an adult as well. It’s all a bit hectic — especially on top of the demands of high school.

I’ve also been working with my mom and other families affected by XLH to help build the Canadian XLH Network so that there’s a place for Canadian XLH’ers to have their voices heard and learn more about their disease. In all my travel back and forth to the States when I was younger, it really became clear to me that there’s a need for more awareness here in Canada. I’ve been particularly focused on helping out on the social media side. It’s such a good way to keep people connected across such a big country.

The future is always a big unknown for anyone with a rare disease, but whatever comes next, in my education, my career, my advocacy work, my treatment, and my life — I’m ready for it. Some days the pain is worse than others, and the challenges of navigating our health care system feel overwhelming, but I’m young, I’m driven, and I’m spontaneous. I’m four foot eleven and a half of fierce independence — the half is important!”

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This content is supported by Ultragenyx Canada. This page was developed by Patient Voice, and the supporter did not influence the final article or editorial themes of this content.