What patients can teach doctors about rare diseases


Having a chronic disease can be frustrating, especially when the patient seems to know more than the doctor. Unfortunately, this situation may be familiar to the millions of Americans suffering from a rare disease. In June, I had the unique experience of attending a convention for patients and health care providers to learn about one such rare disease category, vasculitis.

Vasculitides (plural of vasculitis) are a family of autoimmune diseases characterized by inflammation of blood vessels, and often result in dysfunction of multiple organ systems.  The specific etiology of vasculitides is still largely unknown, and research is limited by the fact that these diseases are exceedingly rare. Indeed, estimates of prevalence in the United States range from 20 to 60 cases per million people. Diagnosis may be challenging given that patients may present with multiple seemingly unrelated symptoms. Physicians and medical students are generally trained to rule out common diseases before hunting for “zebras” (medical slang for extremely rare conditions), and as such, patients may wait several years and see multiple specialists before receiving a definitive diagnosis.

Patients often become experts on their disease when communicating with their general practitioners who may have never treated vasculitis. A role-reversal may occur, as patients bring the latest clinical trial data to their doctor visits, and inquire whether they may qualify for the newest treatments. For some patients, it can be disconcerting when a doctor is unfamiliar with their disease. In these situations, providers should respect patients’ knowledge about their own diseases, and coordinate with subspecialists before suggesting drastic changes in management. In general, it is beneficial for patients to regularly follow-up with specialists, although this may be unrealistic for patients without the financial means to frequently travel across the nation. Discussions about access and cost to care are especially salient in an environment of rapid health care change, and new legislation that may further exacerbate health care disparities.

Conferences such as the 2017 International Vasculitis Symposium aim to foster supportive patient communities, provide platforms for patients to ask their questions directly to leading researchers, and enable health care providers to network and discuss latest treatment innovations.

As a medical student, the most rewarding aspects of this conference were the patient stories. They contain nuggets of wisdom for providers treating any rare disease, not just the vasculitides. Here are some comments from patients about their interactions with the health care system that they wish health care providers knew:

  • Patients with rare diseases are often glad to work with medical trainees and increase awareness of their conditions in the medical system. However, patients generally do not appreciate being “exhibits,” and should be asked for their consent before having to interact with random trainees not directly involved with their care who just wanted to “see an interesting diagnosis.”
  • Multiple female vasculitis patients remarked that their providers immediately jumped to “anxiety” as an explanation for their seemingly unrelated symptoms. This clearly had a gender predilection; virtually zero male patients reported the same phenomenon. In general, providers should attempt to combat their own implicit biases when treating patients of all demographic backgrounds.
  • Pediatric patients with rare diseases need to grow up fast, and know a lot about their conditions. Therefore, health care providers should first attempt to engage the patients themselves rather than automatically deferring to parents.
  • Patients generally do not think less of a provider for not having definitive answers for their questions. Often, patients will have greater respect for a provider who is honest about uncertainty and engages the patient in ongoing thought processes.
  • One of the most jarring patient experiences is lack of care coordination among multiple specialists. Providers (and especially the primary team) should make extra efforts to keep subspecialists on the same page, and ensure that patients do not receive contradictory and confusing information about their treatment.

Since this conference occurred during the Muslim holy month of Ramadan, I was reminded of a verse from the Quran that speaks of resilience: “Verily, with every difficulty there [comes] relief” (Quran 94:6). During my own life, I always took this verse literally and believed that relief would come after any hardship I faced. However, I now realize that for many (especially patients with chronic diseases), hardship may just follow hardship. Finding any “relief” can be very difficult, and it can be tough to persevere when faced with such overwhelming odds.

I was especially inspired by patients who maintain a positive outlook and use their talents to support the disease community. A competitive runner who placed in the top 20 in the United States during the 2016 Olympic Trials started a charity, Victory over Vasculitis, that empowers patients to continue exercising and lead healthy lifestyles. A violinist has resolved to play a concert in all 50 of the United States that raises awareness and funding for vasculitis research. An author has published her story of recovering from a coma in an intensive care unit, and donates her proceeds to the Vasculitis Foundation.

In this time of controversy over health care and intense divisions in our country, it is helpful to focus on areas of unity. People of all backgrounds suffer from debilitating illnesses, and as health care providers, we are charged with not only treating these conditions, but also potentially serving as our patients’ advocates and confidantes.

I found one patient quote especially poignant. She said, “I see the word ‘hope’ as an acronym. It either means, ‘Hold On, Pain Ends,’ or ‘Having Only Positive Expectations.’ I choose to focus on the latter.” As I continue my medical training with the ultimate goal of becoming a vasculitis specialist, I strive to take the latter meaning, as well.

Aamir Hussain is a medical student.

Image credit: Shutterstock.com


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