Take an active role in your health care. Be an engaged patient. Do research and make informed decisions about medical treatments. These are the messages we give to patients, with good reason. Research suggests that activated and engaged patients have better health outcomes. But, the actions we are asking people to take are often easier said than done, particularly when people don’t have the tools or information they need to be activated and engaged patients.
This is especially true when you are a patient or family member of a patient with a rare disease, defined as a disease that affects fewer than 200,000 people. According to the National Institutes of Health (NIH), there are 6,800 such diseases.
There are unique challenges to engagement when you have a rare disease. Often, there are fewer healthcare professionals with disease-related expertise. Typically, less research has been conducted on the disease, meaning that there is a lack of information to inform decisions about treatment options. And, there are fewer patients with the disease to turn to for support. This can make an already difficult situation even more confusing and challenging.
Medical associations, advocacy organizations and organizations like the Patient-Centered Outcomes Research Institute (PCORI) are making strides to engage patients and family members of patients with rare diseases. Rare disease organizations have connected patients with researchers, so patients can provide input on research opportunities. PCORI established an Advisory Panel on Rare Disease, which includes patients with rare diseases, to advise PCORI on patient-centered comparative effectiveness research and engagement with the rare disease community.
These are great first steps. But, more work is still needed, as I have experienced firsthand.
Nearly a year ago, my dad was diagnosed with Chronic Myelomonocytic Leukemia (CMML)-1, a rare form of leukemia. There are only approximately 1,100 new cases diagnosed each year.
As a health services researcher, I have the knowledge, skills, and confidence to be an activated family member. And yet, it is incredibly difficult when information is so sorely lacking. When my dad told me about his diagnosis, I asked many questions to which he didn’t know the answers. So, I did Google searches, reviewed medical and advocacy organizations’ websites, and turned to clinical journals. I found some materials from the American Cancer Society and the Leukemia and Lymphoma Society that were a helpful start, but I didn’t feel like I had enough guidance, and I struggled to find materials that were clear, informative, and actionable.
While individual rare diseases occur infrequently, all rare diseases combined affect nearly 30 million Americans, or almost 1 in 10 people. As we think about the future of patient engagement, we need to think about challenges for different communities of patients, like those in the rare disease community. In the near future, hopefully, as soon a patient is diagnosed with a rare disease, it will be the norm for healthcare professionals to immediately guide the patient and their families to readily accessible information about treatment options. And, hopefully, patients and their families will be able to search for and find clear information, resources, and support on their own—a crucial part of the pathway to being an engaged patient.
Note: If you or a family member has been diagnosed with a rare disease, here are some places to search in gathering information:
- Medical associations (e.g., Leukemia & Lymphoma Society)
- Advocacy organizations (e.g., Genetic Alliance and National Organization for Rare Disorders)
- Online and virtual support groups and/or survivors of rare diseases. Medical association and advocacy organizations can help connect you with these people.
- Clinical trials registries (e.g., National Institutes of Health clinical trials registry)
- Health professionals who specialize in the condition. Some are willing to talk with you via phone, if you are not in the area.
Amanda is a researcher at AIR and an expert with the Center for Patient and Consumer Engagement.