Although individual rare diseases may affect only a fraction of the population, collectively, more than 7,000 rare diseases impact 300 million people around the world. Sadly, some patients wait years for a diagnosis, and for many, the diagnosis comes too late.

A study published in Health Policy emphasized the high demand for education among patients and caregivers. Due to the low volumes of patients with individual rare diseases and the lack of widespread expertise among healthcare providers, patients are often shuffled among multiple providers, receiving conflicting advice. These knowledge gaps leave patients unsure where to turn, and healthcare providers are at a disadvantage when faced with anxious families seeking help.

Competency Gaps in Rare Disease Education

In a comparative analysis by the National Organization for Rare Disorders (NORD),

• Twenty-eight percent of patients reported it took seven or more years to reach a diagnosis.
• Thirty-eight percent of patients received a misdiagnosis during their healthcare journey.
• Fifty percent of patients and caregivers attributed diagnostic delays to a lack of disease awareness, and 42% believed that delays were caused by limited medical specialization.

A Government Accountability Office report found that one of the reasons these diagnostic delays persist is due to the limited experience healthcare providers have with rare diseases and what to look for, particularly if the symptoms are nonspecific.

“When medical students are taught differential diagnosis, they are taught to think in terms of the most common diagnoses,” Rebecca Aune, director of education programs for NORD, explains. “They’re not trained to raise the index of suspicion, which is necessary for shortening the diagnostic odyssey.” Patients and families also need education to help them navigate a complex healthcare system and learn how to access proper care and support for a complicated rare disease.

To tackle these goals, PlatformQ Health, NORD and some of NORD’s 340 member organizations have created a library of over 100 educational programs on a host of rare diseases. Together, the organizations have also co-produced programs that span across therapies, to guide frontline primary care clinicians on screening, diagnosis, referrals and treatment for rare diseases.

Rare Disease Education vs. Well-known Conditions

When it comes to producing rare disease education, there are key differences from education for more well-known conditions:

• Learning objectives: Unlike more traditional disease education that emphasizes the need for treatment adherence as well as shared decision-making between patients and providers, rare disease education focuses more on awareness of symptoms to shorten the diagnostic odyssey, as well as the evolution of the disease phenotype, since the disease may present itself differently once patients are taking a prescribed therapy. Once a new therapy is available for a rare disease, programs focus on advancing therapy uptake to make a difference in the community affected by the disease.
• Educational design: Often treatments for rare diseases involve gene therapies or other novel strategies that may only be available at specialized medical centers. The gene therapy field is changing rapidly, and community hospitals and others outside of specialty centers often are not as well-aware of treatments. Multi-year education for clinicians, as well as patients and their caregivers, is necessary for swiftly overcoming these knowledge gaps and sharing regular treatment and care management updates.

“To achieve the best outcomes for rare disease community members, we need a straddle strategy,” Aune says. “This means educating healthcare professionals who are likely to encounter patients with the symptoms of specific rare diseases, while also empowering those patients and caregivers to manage their health; understand their disease; advocate for themselves; know that they have rights to second, third and fourth opinions; and encourage them to partner with their healthcare providers to build and quarterback their care team.”

Since providers often have had little to no exposure to patients with a particular rare disease, hearing patient stories makes the education more effective. That’s why PlatformQ Health and NORD include what’s referred to as patient voice in rare disease programs. That is, videos or live conversations with patients to share what their day-to-day life looks like and what real alleviation of symptoms means to them.

“That connection to real people is what motivates and engages learners,” Aune says. “There is stronger uptake of program knowledge when we incorporate storytelling into education.”

Hearing patient voices can also have a profound effect on patients and caregiver learners. People living with rare diseases are often incredibly knowledgeable when it comes to their own diagnosis because they’re researching so much about their disease. They understand the physical, emotional and financial burdens and often understand the disease from a clinical perspective.

“There are thousands of people who are willing and brave enough to share their stories to raise awareness about rare diseases and to alleviate the frustration and heartbreak of other families to not have to go through what they went through,” Aune says. “There’s real power in ending the isolation that is experienced by so many people with rare disorders.”

• Educational formats: Another consideration in educational design is the format of content delivery. Patients and caregivers living with rare disease tend to appreciate on-demand programs and often will watch these multiple times. Chaptered content and microlearning (via two- to four-minute videos shared through social media) are content elements they take advantage of to quickly access the information they need.

Patients and caregivers are not necessarily looking to learn about the disease, as they already live it every day. They want to learn about the therapeutic pipeline, transition of care and planning for the future. They tend to appreciate panel discussions where other patients can explain how they have dealt with certain situations. Since they are often very busy, they also like printed education and audio only that are easy to consume.

Clinician education should lay the foundational knowledge and competence related to patient recognition, diagnosis and counseling. As therapeutic agents are approved for use, case-based education to enhance the application of knowledge is appropriate.

• Reaching the right learners: PlatformQ Health uses a variety of methods, including treatment codes, to identify healthcare providers who treat patients with a particular disease. If the disease is further down the journey and there is a therapy available, the organization also reaches providers who are treating those patients.

When it comes to patient education, credible patient advocacy organizations like NORD have trusted relationships with patients and caregivers and play an integral role in bringing these learners to rare disease programs. NORD has strong relationships with these stakeholders, and they understand the sensitivities of learners and what is valuable to them.

• Educational expectations and outcomes: PlatformQ’s Outcomes Team uses objective pre- and post-session assessment to measure the effectiveness of each program. There are many nuances to understand the success of rare disease programs. First, outcome expectations are different from education in more well-known diseases. Knowledge and competence for healthcare providers tends to start out much lower in rare diseases, since providers are often just becoming familiar with a disease.

The types of outcomes tracked may also differ. For example, rare disease education often focuses more on understanding the mechanisms of disease, how the therapy works and how and where the therapy is available.

“To date, 93% of our learners have reported positive changes in their clinical practice and in patient experiences,” Aune says. “That’s an A, and we want to continue to get an A in changes in medical practice for rare diseases.”

There is a dearth of knowledge in the medical community about diagnosing and treating rare diseases. Patient and provider education is essential to shortening the diagnostic odyssey and ultimately improving the lives of patients impacted by these conditions. Program funders will be well served to partner with organizations experienced at reaching and engaging audiences with outcomes-driven programs.

References:

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database, European Journal of Human Genetics

A retrospective review of the contribution of rare diseases to pediatric mortality in Ireland, Orphanet Journal of Rare Diseases

Rare disease emerging as a global public health priority, Frontiers in Public Health

How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction, Health Policy

Barriers to Rare Disease Diagnosis, Care and Treatment in the US: A 30-Year Comparative Analysis, National Organization for Rare Disorders

Rare Diseases, U.S. Government Accountability Office report to Congressional Committees

Pharmacy and Medicine Students' Self-assessment of their Knowledge about Rare Diseases, Journal of Pharmaceutical Research