5 Things Every Med Student Should Learn About Dealing With Rare Disease Patients

1.) It's common to have multiple rare diseases.

If a patient has a rare disease in a specific category, consider whether they may also fit other diagnoses in that category.

2.) There often exist specific clinics or guidelines for dealing with a rare disease.

Often searching rare disease, center for excellence (UK) or Mayo Clinic Guidelines (US) will yield helpful diagnostic and treatment guidelines.

3.) Rare disease patients don't always present as the example case in medical school.

Don't rule out a rare disease based on factors like most common ethnicity or gender. Especially if the disease is a good fit for your patient. You are already dealing with a rare case so not fitting an extra guideline here or there is common.

4.) Rare disease patients are often experts in their disease.

If you are not the specialist for a patient's rare disease just ask them how it may affect your specialty. They will almost always have either a concise answer or a resource for you to reference.

5.) Rare disease patients understand we require patience and time to diagnose and then to educate yourself about their condition.

Rare disease patients are happy to answer questions about our diagnosis, our presentation of that diagnosis, and where you can learn more. We understand that random Emergency Departments or GPs won't have experience with our condition, all we ask is for them to listen to any relevant information and google our rare disease if it might affect our treatment.

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So longtime followers will know that in addition to myalgic encephalomyelitis, I also suffer from the rare disease, Behcet's. Just last night, I was reminded of that lovely fact with a folliculitis-looking rash all over my entire body that feels like little tiny bits of glass sticking out of me like a porcupine.

The disproportionate pain to the sore area as well as the accompanying migraine following the use of a new cleaning product tipped me off to the fact it was Behcet's disease alongside the strong response to steroids and nothing else.

If it were not for patient support groups online I would have no idea this is a common Behcets issue. Nowhere in the diagnostic criteria or med school description of Behcet's does it mention all body severe pain from folliculitis. While some skin issues are listed the severity of this pain and the way it presented was completely different from how skin lesions in Behcet's are typically described and how the ones that got me diagnosed presented.

This just goes to illustrate how important it is that doctors and medical practitioners listen to rare disease patients and learn from them about these diseases. Most of what we know about many rare diseases comes from case studies or very small sample sizes which means that cases can present quite differently from textbooks and it's important to separate the defining features of the disease from the list of symptoms your patient needs treatment for. For example, people with Behcet's can have complications in just about every organ of the body but knowing they have a Behcets diagnosis suggests that treating these complications with steroids could be life-saving even if say Kidney Issues aren't on the list of classic Behcets symptoms. "Wherever blood flows, Behcet's goes".

Finally, while this post is authored with an eye towards rare disease patients much of it is also applicable to chronic illness patients and those where research is new or quickly evolving like MECFS and long covid. While patients will rarely be doctors themselves, we are often the first to hear about new developments in our disease so listening to your patients can help you stay up to date on the latest developments.