Dos and Don’ts: Caring for Patients With Rare Diseases

Physicians must recognize that patients with rare diseases are often the experts on their conditions.

With an estimated 25 to 30 million people in the United States living with a rare disease, much remains to be studied and understood about these conditions. For patients with a rare disease, it is easy to feel unheard, alone, and in grave need of guidance and support. Therefore, physicians must make extra efforts to ensure they provide these patients with adequate medical advice. Some Dos and Don’ts of communicating with patients with rare diseases are outlined below.

DO recognize that the patient is an expert in his or her disease.

There is a general lack of evidence, research, historical studies, and treatment options concerning rare diseases.1 Subsequently, patients who are living with a rare condition are often compelled to equip themselves with as much data as they can gather. As a result, when a person with a rare disease comes to a clinic appointment, it is likely that he or she will be well read and — unless you are a specialist — is also likely to know more about the condition than you do.

Cheryl Velba, a patient with a rare disease and an advocate, says, “It is important for my physicians to know that I research everything. It has been my experience that most patients with rare diseases and their caregivers are very knowledgeable and savvy. They have educated themselves on the disease, treatments, and complications. Most of the people I have met who are patients or caregivers keep up on advances. They take charge and are not afraid to question the medical staff.”

Gavin Jones, Director of Rare Disease at the health communications group OPEN Health, has spent 15 years developing a specialist interest in rare diseases. He suggested that physicians “must recognize that patients and their families are ‘experts by disease’ and have often been on a long odyssey toward diagnosis.”

Essentially, unless a physician is a specialist, he or she cannot be a medical expert on any rare disease. Indeed, it is the patients with these conditions who have the expertise, gained from direct experience with the symptoms and the burden of illness. Learning from them is one of the quickest ways for a physician to understand the condition before determining what specific medical care should be provided.

DON’T pretend you know what the condition is.

You will not get away with pretending to know about a patient’s rare disease, and doing so will only lead to a loss of patient trust. For example, when Alex Buckley visited his physician not long after being diagnosed with Chiari malformation by a specialist, the physician claimed to know about the condition. “I could tell straight away that he didn’t know what Chiari malformation is,” said Mr Buckley. “This eroded trust. I don’t expect a physician to know everything, especially with a rare condition, so I would have been fine with him not knowing. In fact, I would have been really impressed with his honesty.”

By pretending to know about a condition, physicians are also preventing patients from communicating their needs. “You are silenced from sharing things that are important to a productive consultation,” says Mr Buckley. “It takes away any team work and gives the message that the physician is putting the doctor-patient hierarchy above the need to understand the condition/patient.”

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DO take time to listen before you advise.

Despite that patients with rare diseases dedicate a large amount of time to learning about their illness, they will still have multiple unanswered questions. It is important to recognize that consultations with patients with rare diseases can be very different from the usual physician-patient interaction. You must take the time to listen to the person at a much deeper level than might be necessary for a common illness that you have treated time and again.

Patients with rare diseases are hypervigilant to any potential signs of deterioration because of the lack of general understanding around their condition. “Don’t rush me through my examination or dismiss me. I expect all of my questions to be clearly answered,” said Ms Velba. Rushing through the conversation with a patient can come across as downplaying their symptoms, even if these appear to be unrelated to the disease. “Don’t jump to explaining unusual symptoms as being psychosomatic or caused by stress. Always be willing to dig a little deeper,” added Mr Jones.

Listening first before giving medical advice can also assist patients with identifying gaps in their knowledge about their condition. “It is extremely important for the physician to clearly listen to the patient,” said Ms Velba. “My gastroenterologist is a perfect example. While we were chatting during my examination, she picked up on 2 things I mentioned that both turned out to be a medical issue.”

DO direct patients to a facility or organization that can provide better guidance.

Addressing the frustrations of patients and their families is a critical step in addressing the needs of patients with rare diseases. Physicians may need to ease that frustration by acknowledging that they alone may not be able to provide comprehensive medical guidance and will require the support of specialists. Addressing patient frustrations is particularly important for the newly diagnosed, according to Ms Velba. “They need someone with experience to guide them. I don’t believe a [primary care] physician is the right person for that. They need to immediately connect with NORD [National Organization for Rare Disorders] to find someone to guide them. They should get at least one other professional opinion and find the best facility for treatment.” NORD also offers free online Physician Guides, enabling people to research specific rare diseases to facilitate diagnosis, referral, and treatment.2

It is also helpful to provide patients with information on where they can find social and emotional support. According to Mr Jones, “You have to identify patient groups who may be able to support patients and families and be able to connect them with other patients, thereby reducing isolation.”

The bottom line…

Physicians may not be able to provide the complete care required by people with rare diseases, but physicians are in a position to point patients in the right direction and ensure that patients feel valued and heard. Directing patients toward additional evidence-based resources and the appropriate health organizations can make a huge difference to patients with rare diseases and their care providers. Most importantly, physicians must be open about what they do and don’t know about a condition, acknowledge gaps in understanding, and take steps to try and fill those gaps, first and foremost by listening to the patient.


  1. National Institutes of Health National Center for Advancing Translational Sciences. Caring for Your Patient with a Rare Disease. Updated January 30, 2018. Accessed March 27, 2019.
  2. National Organization for Rare Disorders (NORD). Physician Guides. Accessed March 27, 2019.

This article originally appeared on Medical Bag