Some moments in life quietly change everything.
Our family had one of those moments recently.
What began as a search for answers slowly unfolded into something we never expected: a diagnosis of Argininosuccinic Aciduria, a rare genetic metabolic disorder. Most people have never heard of it, and before this journey, neither had we.
Argininosuccinic Aciduria (often shortened to ASA) is part of a group of conditions called Urea Cycle Disorders. In simple terms, the body is missing an important enzyme needed to remove ammonia, a natural waste product from protein metabolism. When ammonia builds up in the body, it can become dangerous for the brain and nervous system.
Our child already lives with two types of epilepsy, and this new diagnosis helped explain some of the medical questions our family has been navigating. Suddenly, many pieces of the puzzle began to fit together. But with those answers came new realities: careful dietary management, monitoring for illness, emergency plans, and ongoing care with a specialized metabolic team.
At the same time, we want to be clear about something important: these diagnoses do not define our child. They are curious, joyful, strong-willed, and full of personality. They love to learn, play, explore, and make people laugh. Like any child, they have big dreams and a bright future ahead. Medical conditions may be part of their story, but they are only a small part of who they are.
Because ASA is so rare, care often requires expert teams and specialized resources. In British Columbia, families like ours rely heavily on the incredible clinicians and researchers at BC Children's Hospital, who provide life-saving expertise for children with complex and rare conditions.
The work happening there is extraordinary. Doctors, nurses, dietitians, geneticists, and researchers collaborate to help children not only survive, but thrive. They support families through uncertainty, guide treatment plans, and continue searching for better therapies and understanding of rare diseases.
That’s why this year our family is participating in the BC Children's Hospital Foundation Run for Kids.
We’re running to support the hospital that supports families like ours. We’re running to help advance research for rare metabolic disorders. And we’re running in gratitude for the healthcare professionals who dedicate their lives to caring for children with complex medical needs.
Every step represents hope — hope for better treatments, deeper understanding, and brighter futures for children facing rare conditions.
Thank you for being part of that journey with us.
