How one patient’s struggle, persistence, and advocacy can illuminate systemic gaps in rare disease care and inspire meaningful change while reminding others that their voice matters.
I was finally prescribed a higher dose of fludrocortisone, and the effect was almost immediate. After months of steady decline, I suddenly was awake enough to think and act beyond basic survival. It took two days on a higher dose of fludrocortisone to wash away many months of escalating symptoms.
Angry that it took this long to solve this problem, I turned to a Facebook support group, asking for help finding a more available endocrinologist, even outside of my province. One member, aware of my situation, suggested I write to my province’s Health Minister, who is also an endocrinologist. With nothing to lose, I did just that: I wrote an email to my province’s Health Minister and my local elected official, describing my experience living with Autoimmune Polyglandular Syndrome Type II (APS II), a rare condition that includes Addison’s disease and Hashimoto’s thyroiditis. I shared my renin lab results and quality of life, knowing that the Health Minister’s medical background in endocrinology would help him understand how serious this situation is.
By the next morning, I regretted sending it… not wanting to burden anyone with my problems and was worried about seeming overly dramatic. I had an upcoming appointment with my new endocrinologist, so the email was likely a reactionary response rather than a well-considered one. I Googled how to “unsend an email” and quickly learned I was too late. So, I sent another email, asking them to disregard the first one and explained that I would pursue other avenues instead. I imagined that, on Monday morning, a civil servant would see the issue as resolved, and that would be the end of it. That same afternoon, however, I received personal replies. I could not believe it. One response came from the Health Minister himself. The other came from my local elected official. Both replies were thoughtful, kind, and attentive. That matters. A lot.
For patients living with rare diseases, being heard is not a small thing.
What I Wrote:
I have lived with APS type II for almost five years. Over the past year, after losing specialist care, my health deteriorated slowly and continuously while I waited for access to endocrinology support. I knew my fludrocortisone replacement was inadequate long before laboratory confirmation arrived. I knew my symptoms were escalating. By March, I was unable to leave the house. By the end of April, unable to leave my bed. But knowing is not the same as having access. Patients with rare diseases often become “expert patients” out of necessity. We learn the terminology, study treatment protocols, buy the medical books, and monitor our own laboratory values because we have no other choice. The more knowledgeable you become, however, the more clearly you see the gaps in the system — and how little power you have to close them.
That’s why I wrote the email. I wanted to suggest a practical solution: formalized collaboration structures between local physicians and specialized endocrinology centers in Canada that have expertise in rare adrenal diseases. They see so few of us with rare diseases, that building that capacity within our small province is not the most strategic way to go. However, establishing collaborative agreements with hospitals possessing the necessary expertise to support local medical teams is a much more efficient and sustainable approach.
What was the outcome? I know that my story reached real people. Maybe nothing immediate will come from it, but maybe something eventually will. We never really know where a story travels once it leaves us, or what it may grow into over time. However, if an opportunity ever presents itself to improve care for patients like me, perhaps my story could help.
Feeling heard is the biggest outcome for me, and the most important one. That alone made writing the email worthwhile. It also felt empowering to be doing something: something to help others and myself. I have lost so much confidence in my body over the past five years, and the act of advocacy made me feel like I am rebuilding that confidence.
By Canadian Addison Society Member Dany Desjardins