Beyond diagnosis and treatment: helping young Canadians with rare diseases live, learn and thrive

By Natasha Trehan, first-year medical student at Toronto Metropolitan University and 2026 RAREvolution Scholarship recipient

At the age of 13, I began experiencing wrist pain while playing recreational tennis, followed by swollen, inflamed fingers. I was diagnosed with polyarticular juvenile idiopathic arthritis (JIA), a chronic condition affecting multiple joints.

My family doctor listened to my concerns, ordered tests and referred me to a rheumatologist at the Hospital for Sick Children. Within about a month of my first symptoms, I had a diagnosis. I was fortunate to receive answers so quickly; many people living with rare diseases face years, sometimes decades, of uncertainty before receiving a diagnosis.

Getting a diagnosis, though, is not the same as knowing how to live with one. JIA affects my fingers, wrists, ankles and feet. Walking long distances, handwriting, getting dressed, typing for a long time and taking part in some school activities could all be difficult to manage with the inflammation. At 13, I had questions that test results could not answer: Is this forever? Is my life over? How will I manage day to day? I needed support to understand what my diagnosis might mean for my life and future, but much of the focus was on identifying the disease and treating it.

As a family, we were frightened by what we read online about the potential side effects of my medications. Worried about how strong the medications might be, I went a few months without treatment while we explored other options. By the time I returned to care, my disease had progressed and some of my joints had been damaged. Looking back, I wish our concerns had been acknowledged and we had had more opportunities to ask questions, understand the risks of both treatment and untreated disease, and make decisions with our care team. This experience showed me that patient- and family-centred care means more than providing information. It requires understanding the beliefs, concerns and experiences that shape decisions, and building the trust needed for meaningful shared decision-making.

Struggling to find other young people who understood my experience with rheumatic disease inspired me to start the Take a Pain Check podcast in Grade 12. It has since grown into Take a Pain Check Foundation, a youth-led global organization with over 50 volunteers, supporting hundreds of young people through peer connection, advocacy, social support, education and leadership opportunities. Building this community has shown me how powerful shared experiences can be in helping young people feel understood, supported and less alone.

Today, I am a first-year medical student at Toronto Metropolitan University. My experiences have led me to pursue medicine and inspired the kind of physician I hope to become: one who listens to patients, considers their lives beyond a diagnosis and makes space for shared decision-making. I hope to provide holistic care that considers physical health, mental well-being and the ways illness affects school, work and everyday life.

Over the years, some people, including some of my high school teachers, discouraged me from pursuing science because of my condition. Those comments were difficult to hear, but I continued working toward my goals. Starting medical school has been a meaningful milestone, reminding me that my diagnosis does not determine the limits of my future. 

Receiving a RAREvolution Scholarship from the Canadian Rare Disease Network (CRDN) has reinforced that message. My friend Josh, now a first-year medical student at the University of Ottawa, introduced me to the scholarship. During our undergraduate studies, we connected over our experiences as students living with rare conditions. We both applied and were both awarded the scholarship. Alongside meaningful financial support, it offers recognition of our potential and the futures we are working toward. 

The RAREvolution Scholarship demonstrates the value of investing in young people living with rare diseases, supporting their education and recognizing their potential. That commitment should extend across health care, education and public policy, helping young people pursue their ambitions with the support they need. 

For Canadian decision-makers, this means making rare diseases a sustained public policy priority: ensuring timely access to family doctors, specialists and treatment, alongside compassionate communication that helps patients and families participate in decisions about their care. Young people also need mental health services, peer connection, appropriate accommodations for invisible disabilities and support during the transition from pediatric to adult care. These supports should be accessible regardless of where someone lives or their family’s ability to navigate the health system.  

Living with a rare disease will always be part of my story, but it should not limit what I or any other young person can aspire to. I am grateful that the RAREvolution Scholarship is supporting me as I pursue medicine. With continued investment in health care, social support and education, more young people can participate fully, pursue their ambitions and contribute to their communities.

About the RAREvolution Scholarship: In the program’s first year, the Canadian Rare Disease Network (CRDN) awarded scholarships of up to $5,000 each to Natasha Trehan and 14 other students from across Canada living with, or suspected to have, a rare disease. The RAREvolution Scholars are pursuing diverse fields of study, each bringing a unique lived experience and their own aspirations for the future. The scholarship program is made possible thanks to financial support from Alexion Canada, a rare disease company.