According to Sermo research, 60% of primary care doctors and 80% of specialists want to contribute to rare disease (RD) care plans and welcome the challenges they present. But while RD management is a fast-advancing and intellectually rewarding area of medicine, it poses unique challenges.
Read on as we detail RD management’s existing barriers, the importance of peer collaboration and six notable rare medical cases.
The value of discussing rare medical case studies
Medical cases don’t exist in a bubble. It’s uncommon for medical cases to be 100% unique, and there’s always a chance another doctor around the world has experienced the same thing. That’s why many doctors look to Sermo to ask their peers for advice, whether for diagnosis or for treatment.
Here are some more benefits of conversations around rare medical cases:
Advances medical knowledge
Funding is a barrier to rare and unique disease research, even in wealthy nations. The funding ecosystem is fragmented—funding stakeholders have distinct strategic objectives and measurements for success. Challenges in health economics, sustainability of funding streams and the inherent complexity and risk of RD research investments compound this issue.
When doctors discuss rare cases, they help fill research gaps and encourage more awareness about certain diseases. In some instances, these discussions even help doctors treat their patients.
For example, Sermo’s community of doctors has been collaborating on rare cases since 2007. In 2015, Canadian doctor Dr. John Fernandes posted on Sermo seeking clinical recommendations for a young girl battling an E. coli infection—the same strain that ended her brother’s life. While E. coli infection is common, very few strains become life-threatening. Nearly 50 doctors from around the world promptly responded to Dr. Fernandes, offering their guidance. “In your search for the contamination source, involve places visited, parties they went to, etc. Keep the patient in hospital until they are well. Add probiotics to the treatment,” a South African general practitioner advised.
Hones diagnostic skills
Uncommon diseases can be difficult to treat, especially when they lack proper research and documentation. While they may not find concrete answers, asking other doctors about their experiences treating similar (or even identical) cases gives many doctors the information they need to treat patients with more confidence.
Improves patient care and empathy
From a patient perspective, having a rare medical condition is isolating. In many cases, patients bounce from doctor to doctor to get answers—sometimes with no conclusion. This exhausting process means doctors should pay extra attention to patient care.
Researching rare conditions and discussing them with peers raises awareness and gives doctors more context for patient interactions. This allows for greater empathy and a better patient experience.
6 rare medical cases on Sermo
The following is a list of some uncommon cases, including interesting examples of ambiguity-reducing doctor collaboration and clinical insights.
1. Acute cerebellitis
A Sermo member shared the case of an 8-year-old girl who developed a headache, fever, dizziness and unsteady gait. Following ineffective initial treatment, clinicians diagnosed her with acute cerebellitis—a rare inflammatory pathology of the cerebellum. Acute cerebellitis presents with sudden cerebellar dysfunction and typically affects children. The Sermo member noted that the patient improved after 12 days in hospital.
Because acute cerebellitis often goes undiagnosed, its exact prevalence is unclear. One U.S. study examined children presenting with neurological conditions over 23 years at a single hospital. They identified 73 cases of acute cerebellar ataxia—0.4% of neurologic admissions. Only one of those 73 met stricter imaging criteria for acute cerebellitis. Another Israeli study followed a population of approximately 60,000 children over 11 years and identified 39 cases, corresponding to an incidence of 5.9 per 100,000 child-years.
2. Lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease. In most cases, TSC1 or TSC2 gene mutations underlie LAM. Its clinical course includes recurrent pneumothorax, progressive dyspnea on exertion and chylous fluid collections.
LAM primarily affects women aged between puberty and menopause, while it very rarely affects men. Researchers detailed a case of a 17-year-old male with tuberous sclerosis complex (TSC) presenting with spontaneous pneumothorax. Histopathologic and immunohistochemical analysis following surgery confirmed LAM, leading researchers to note, “We should avoid simple diagnosis and consider LAM as an underlying disease even in young teenage male pneumothorax cases if the tissue specimen can be obtained by surgery.”
Reflecting the broader need for expanded differential diagnoses, Sermo’s research indicates that most uncommon disease patients receive three incorrect diagnoses. The average time to diagnose a rare disease in the UK is 5.6 years, or 7.6 years in the United States. Broadening the differential diagnosis, particularly through peer collaboration, can reduce misdiagnoses and delays in diagnosis.
3. Multiple Symmetrical Lipomatosis
A GP on Sermo reported a case of multiple symmetric lipomatosis—also known as MSL or Madelung’s disease—which is a rare disorder characterised by symmetrical, diffuse lipoma growth in the neck, shoulders, arms and/or upper trunk. While MSL can occur in diverse demographics, it predominantly affects men aged 30–70 with a history of chronic alcoholic misuse.
MSL affects less than 0.014% of the U.S. population (50,000). It appears more frequently among patients of Mediterranean and Eastern European descent. Its clinical manifestations vary widely but commonly include abnormal adipose tissue morphology, arthralgia, gait disturbance and multiple lipomas.
4. RRM2B-related encephalomyopathic mitochondrial DNA depletion syndrome (RRM2B MDDS)
RRM2B MDDS is an autosomal recessive disorder, resulting in severe mtDNA depletion and rapid, multi-organ failure. It’s an extremely rare condition that has a high mortality rate—29% survive past six months and 16% past one year.
The 2017 case of 9-month-old Charlie Gard brought attention to RRM2B MDDS and caused debate among doctors globally. Charlie Gard’s doctors agreed that no known viable RRM2B MDDS treatment or cure exists and recommended withdrawing mechanical ventilation. Charlie’s parents rejected the British doctors’ assessment and raised £1.3 million for experimental nucleoside therapy—a therapy that demonstrated limited success in treating TK2-related MDDS.
Now-retired High Court judge, Justice Nicholas Francis, wrote, “No one in the world has ever treated this form of MDDS with nucleoside therapy. There is no evidence that nucleoside therapy can cross the blood-brain barrier which it must do to treat RRM2B.”
The High Court of England and Wales first heard the case. After it ruled to withdraw life support, Charlie’s parents appealed to the Court of Appeal, the Supreme Court of the UK and the European Court of Human Rights.
Doctors offered their opinions on Sermo. One Anaesthesiologist posted, saying, “This is a decision for the parents to make, not the doctors or the courts… There may not be much hope for this child, but we should not be in the business of taking away hope from patients or parents.” Another doctor offered a countering view, saying, “All who have reviewed the case see it as hopeless and cruel to continue treatment.”
5. Brown recluse spider bite-induced necrosis
A Sermo member posted on how brown recluse spider bites can trigger significant tissue necrosis, particularly in patients with high venom exposure or who experience delayed treatment. These cases may require surgical removal of dead tissue and months of recovery. Severe necrosis from such bites, however, is rare—affecting fewer than 10% of brown recluse spider bite cases.
6. Plastic bronchitis
A general practitioner posted a photo on Sermo of one of the more interesting medical conditions: a branch-like mass that a 14-year-old boy had coughed up the day before. Sermo’s community promptly identified it as plastic bronchitis—a very rare condition characterized by the formation of gelatinous, branching bronchial casts. These casts replicate the anatomical structure of the airways. This timely diagnosis saved the boy’s life and helped educate the near-4,000 doctors who viewed the post.
Gain insight from other doctors by joining Sermo
“Rare diseases are just that: rare,” says Teri Willochell, a Sermo member and internal medicine doctor. “Doctors don’t see them frequently and very few doctors have experience with them… connecting doctors with experience with these diseases with doctors who may not have that knowledge to medically crowdsource and solve these tough cases faster.”
On Sermo, you can discuss obscure medical conditions with other doctors—whether to learn or contribute experience. Sermo is the world’s largest community of doctors, where 1+ million doctors discuss the topics that matter to them and their patients.
Join the conversation. Become a Sermo member today.