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Caring for the Clinically Rare: Lessons and Resources on Rare Diseases

Op-Med is a collection of original articles contributed by Doximity members.

What makes a disease “rare?” And when it’s an infrequent or little-known condition, how and what can clinicians learn from it? On the topic of clinical rarity, the Doximity network discussed more than just incidence rates — commenters pondered the impact of misdiagnoses, shared how to work with few resources, and underlined the power of listening. They also shared the lessons they’ve learned from years of treating patients presenting with the uncommon. 

Rare diseases are actually common for Cheryl Garganta, MD, a clinical geneticist at the University of Florida. The most common conditions she diagnoses and treats are 1 in 15,000.

“I have seen several individuals with different recessively inherited conditions that have frequencies less than one in a million,” Dr. Garganta said. “I have also seen several people with different dominantly inherited conditions where there are only a handful of people known to have the condition, but I think the low incidence of these conditions is an artifact of limited testing.”

And what is familiar to one clinician may be unknown to another. Thomas Watson, MD, knew little about hereditary nephrogenic diabetes insipidus back in 1991, when he “relied on huge outdated textbooks and the medical library for information, both of which had very limited — and frankly erroneous — information about this rare disease.” 

“The most invaluable lesson learned by this green doctor and new dad was to listen to the [parents] of ill children patiently and never discount their concerns,” Dr. Watson shared. “Followed by: infants and toddlers will tell you valuable nonverbal information if you are open to their input.”

More common conditions can still mystify. When a 38-year-old woman presented with multiple orthopaedic injuries on a repeated basis, Ronald Graham, MD, “suspected petit mal seizures due to lack of memory of the events. Exhaustive neurology workup at a major university academic center was negative. Suggested viral/bacterial titers to the department chairman [showed] chronic Lyme disease!”

Comorbidities can compound and exacerbate a patient’s rare disease. Rachelle Janush, DO, attested to this in one patient’s case of central core disease (CCD). “[The patient] has other concomitant complex diagnoses irrespective of CCD which certainly enhances her difficulties,” Dr. Janush reflected. 

“She was diagnosed with CCD as an older adult with great difficulty in her late 30s, which was initially thought to be MS. Now 60, she does not ambulate and also has scoliosis and hip complications. CCD is part of the National Organization for Rare Disorders (NORD), an organization that I had previously not been involved [with].”

Seeing patients with a rare disease as complex and whole and listening to their stories is important in appropriately caring for them and their families. See below a list of some resources to guide your practice: 

What are your best practices for treating patients living with rare diseases? Share with the Doximity community in the comments below. 

Image by Luis Alvarez / GettyImages

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