Advocating for Your Own Health: A Rare Disease Day Story

Rare Disease Day is about raising awareness and advocating for better healthcare outcomes for the 300 million people worldwide living with a rare disease. These individuals often face unique challenges in getting a proper diagnosis, accessing treatment, and finding reliable information about their disease. Today, we share Andrew’s story—a powerful example of why self-advocacy in the healthcare system is crucial, especially for those with rare cancers.

An Unexpected Discovery

Andrew’s journey began while he was traveling in Europe. One day, he noticed a sizable lump on his collarbone that was painless but concerning. Given his previous history with leukemia and a bone marrow transplant in 2001, Andrew had learned to pay close attention to changes in his body. As soon as he returned to Canada, he scheduled an appointment with his doctor.

The medical team at Princess Margaret Hospital (PMH) responded quickly, ordering a biopsy of the mass. When the results came back, he was originally diagnosed with a necrotic metastatic endocrine tumor, a condition that carries an extremely poor prognosis. However, Andrew’s instinct told him that the medical team needed to take a closer look. Luckily his doctor, who had experience with rare conditions, pushed for further investigation. 

Due to delays in transferring tissue samples, Andrew had to repeatedly follow up before his case was reviewed by a different specialist. He finally got his results after the biopsy was reanalyzed, and that is when he was diagnosed with Merkel Cell Carcinoma (MCC). While still a serious condition, MCC required a different treatment approach than what had initially been recommended. This experience reinforced to Andrew that had he not advocated for himself and pushed for a second review, he might have received the wrong treatment—possibly with fatal consequences.

Navigating the Complexities of a Rare Cancer

With fewer than 150 cases of Merkel cell carcinoma diagnosed each year in Canada, finding the right information and specialists proved to be a challenge. Because MCC is so rare, many oncologists do not have extensive experience treating it.

Determined to learn everything he could, Andrew turned to online patient communities. Through these groups, he connected with others facing MCC and learned about:

• Leading specialists in Canada and beyond

• Available treatment options, including immunotherapy

• The latest research developments

  
  

Andrew emphasizes that while patient communities can be valuable, it is also important to do your own research and find the best possible specialist in the field. Specifically in a Canadian context, he reiterates that oftentimes this means turning to American specialists due to the larger population size. One of the most helpful resources he found was the Fred Hutchinson Cancer Center in Seattle, a globally recognized leader in MCC research.

"I realized that a rare disease diagnosis means you can’t just rely on a general oncologist. You need to find the best specialist possible. That often means advocating for yourself, pushing for referrals, and seeking out the most up-to-date research."

Why Self-Advocacy Matters

Andrew’s experience highlights a critical lesson for anyone facing a rare disease: you are your own best advocate. The healthcare system is complex, and rare diseases can often be misdiagnosed or overlooked. Patients who take an active role in their care can significantly improve their outcomes.

Andrew’s Tips for Self-Advocacy

• Do not settle for the first diagnosis – If something does not seem right, request a second opinion or a pathology review.

• Push for the best possible care – Find out who the top experts are in your condition and advocate for referrals to see them.

• Stay informed – Learn about your disease through reliable sources like research hospitals, academic studies, and trusted patient communities.

• Join a support network – Other patients can provide insights, share experiences, and help you navigate treatment decisions.

• Be persistent – Follow up on test results, push for imaging and appointments, and do not be afraid to ask tough questions.

  
  

Andrew’s story is just one example of how patients with rare diseases must often fight for recognition, research, and resources. Unlike more common conditions, rare diseases tend to receive less funding and public awareness, making it even more challenging for patients to find the care they need. If you or a loved one has been diagnosed with a rare disease, remember that help and support are available. Self-advocacy, patient communities, and research organizations can all play a role in ensuring that you receive the best care possible.