There’s a common saying in medicine: when you hear hoofbeats, you should think of horses, not zebras. It’s a roundabout way of saying that common conditions are more likely to be the cause of a patient’s distress as opposed to rarer, less obvious, or unusual conditions. However, just because a diagnosis is unlikely doesn’t mean it should be dropped from consideration completely, especially without proper assessment and screening. 

Our team at The France Foundation is dedicated to equipping health care providers with the knowledge and tools necessary to identify, diagnose, and manage rare diseases effectively. February 28th is Rare Disease Day, so we’re reflecting on the work we’ve done in these often-overlooked areas of continuing medical education and reaffirming just how much it matters—and it’s a lot more than you might first think.

Why Rare Disease Education Matters 

Rare diseases often alter the trajectory of a patient’s entire life; they can be disabling or even life-threatening and have a lasting impact on not only the patients themselves but their caregivers as well. In many cases, these conditions affect pediatric patients who require specialized care and rely on their support system of family, friends, and providers to be their advocates at all stages of disease progression. 

As Sean Conlan, one of our directors of educational development, notes, “The unmet needs in rare disease are often immense, which is all the more reason to educate appropriate clinicians to help them recognize the signs and symptoms and put these patients on the right path towards and treatment.”

Our Expertise in Rare Diseases: A Tailored Approach to Learning 

The France Foundation has a long history of strong educational programming in rare diseases found in many different specialties. One of the key points behind our programs is the understanding that patients will often see several specialists for an accurate diagnosis and treatment, as rare diseases notoriously affect various body systems and have overlapping symptoms with common disorders. Therefore, we make it our mission to educate an array of health care providers who could encounter rare diseases such as: 

• Duchenne muscular dystrophy (DMD), a genetic neuromuscular disorder that affects multiple body systems and largely impacts pediatric patients assigned male at birth

• Immune Thrombocytopenic Purpura (ITP), an autoimmune disorder where the immune system attacks platelets, leading to increased bleeding risk and impaired blood clotting

• Spinal Muscular Atrophy (SMA), a genetic neuromuscular disorder characterized by the degeneration of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy

• Idiopathic pulmonary fibrosis (IPF), a progressive interstitial lung disease that causes scarring of lung tissue with no clear underlying cause

• Rett syndrome, a genetic neurodevelopmental disorder that affects multiple body systems and largely impacts patients assigned female at birth

• Sickle cell disease, a genetic disorder characterized by the production of abnormal hemoglobin. This condition predominantly affects individuals of African descent and results in chronic hemolytic anemia, recurrent episodes of severe pain, and other multi-system complications 

• Myotonic dystrophy type 1 (DM1), a genetic disorder that affects multiple body systems including cardiovascular, neurological, muscular, and gastrointestinal functions, impacting patients across different age groups

We recognize that rare disease education requires an approach as unique as the diseases themselves: a flexible, innovative, and individualized approach to meet the needs of both early-career and seasoned health care professionals. One-size-fits-all isn’t nearly as effective as finding the right formats to deliver critical content. Here are just a few we use: 

Grand Rounds & Other Live Events: Designed to engage specific audiences, ensuring information reaches the right learners through dynamic, in-person sessions. 

EXPLORE Programs: A customizable online learning format that allows health care providers to access information they want in whatever order they believe is best for their professional growth. You can experience this in our activity on myotonic dystrophy type 1 (DM1) here.

Microlearning & Other Flexible Online Formats: Creating multiple online learning modalities catering to clinicians of all experience levels and varying degrees of free time allows accessibility and adaptability. Experience this learning format in our activity on Duchenne muscular dystrophy (DMD) here.

Keeping Content Current & Partnering With Advocacy Groups 

Medical advancements are constantly emerging in the rare disease space: clinical trials advance, treatments are approved, new information comes to light, and our team takes extra measures to ensure we stay up to date on all relevant content and adapt our educational materials as developments occur.  

In the interest of staying at the cutting edge of innovation, we partner with advocacy organizations that act as the voice of the patients and enhance our educational initiatives. Their partnership with us ensures alignment with the evolving needs of both patients and caregivers; while they educate policymakers and community members, we bridge the remaining gap by educating health care providers. 

You can read more about our prior work in rare diseases like Duchenne muscular dystrophy with patient advocacy groups here.

Amplifying Patient Voices & Driving Change in Clinical Settings 

The patient’s perspective is at the heart of effective rare disease education. Our programs prioritize expert-led education while incorporating real patient experiences wherever possible. Creating meaningful changes in clinical settings requires a collaborative approach between our educational developers, program managers, the faculty they work with, the patients that faculty members treat, and the caregivers who support the patient. As complex as the process can get, the lessons learned are far from linear. The patients can—and do—teach learners just as much as the faculty!  

As we continue into the future of research and development in medicine and increased patient-reported outcomes, we will continue to emphasize the need for rare disease education. Though it’s true that the number of patients affected might be smaller, the impact of these diseases is felt just as strongly by patients and their communities as any other. As Sean Conlan highlights, “Helping health care professionals understand what they can do, even in the absence of a true cure, is key to our education. It’s about focusing on what we can do and understanding what’s possible as progress is made.” 

Sometimes, the hoofbeats do belong to a zebra—recognizing that comes down to acknowledging that it’s a possibility to begin with and knowing how to properly identify it. The France Foundation is proud of the work we’ve done thus far and committed to continuing our work in rare disease education, because at the end of the day, every patient deserves to be truly seen, understood, and treated with the highest quality of care.