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How to Care for Patients With Very Rare Diseases

Physicians who diagnose and manage very rare diseases need to coordinate care and obtain approval for tests and treatment.

As a doctor, you’ve learned the textbook facts about very rare diseases by heart. You know the presenting symptoms, genetics, risk factors, differential diagnosis, treatment options and prognosis. But diagnosing a disease that you’ve never seen and taking care of a real patient who is literally “one in a million” is a different story.

When you suspect that your patient might have an unusual disease, you undoubtedly want to make sure to identify every detail that needs to be taken care of as you strive to provide the best care. Here are four steps to take.

1. Keep an Open Mind

The difference between a human doctor and an algorithm is that a human physician can consider subtleties that aren’t necessarily on the patient’s formal “problem list.” For example, when your patient has a slightly droopy eyelid or a subtle skin color variation, these clues could lead you to consider unexpected illnesses, such as an atypical neuromuscular eye disease or a rare liver condition. As a physician, you have a huge advantage when you look at your patients with fresh eyes and consider all the possibilities before reaching a definitive diagnosis.

It can be tough to avoid jumping to the most likely diagnosis, however, when you’re rushed and seeing too many patients in a short amount of time. One thing that can help is to routinely keep the door open to diagnostic possibilities when communicating with your patient and with other healthcare providers. Rare diseases may masquerade as more common illnesses that present with similar symptoms. For example, a case report published in BMC Surgery describes a patient who has unicentric Castleman’s disease (UCD), a condition that can mimic pancreatic cancer. The authors explain that only 53 cases have ever been described in the literature, but they suggest that “although a rare disease, UCD should always be considered when a solid asymptomatic abdominal mass is incidentally found.”

When you’re dealing with unsolved cases or atypical clinical presentations, it can be beneficial to consider rare diseases, especially those that don’t improve with the standard treatment routinely used to manage more common conditions.

2. Follow Your Instincts

When identifying and diagnosing a condition that occurs with scarcity, you may encounter some skepticism from other healthcare providers. You will undoubtedly hear the old saying, “When you hear hoofbeats, think of horses, not zebras,” as doctors often refer to rare medical conditions as zebras. But there are indeed zebras, and you could end up with regrets if peer pressure causes you to change your mind and delay getting the best treatment for your patient.

Even if you haven’t seen a rare diagnosis up close before, that doesn’t mean you won’t see one. And sometimes unusual cases come in clusters. I recall seeing two patients who both had Rett syndrome within just a few months of each other with a senior pediatric neurologist who hadn’t seen a child with the rare syndrome in many years.

3. Prepare to Make Your Case

When you believe your patient might have a rare condition, you could face a frustrating uphill process trying to obtain approval for the care your patient needs. You may be required to provide highly specific evidence of patient symptoms and physical examination signs so that your patient’s health insurance will authorize uncommon or costly diagnostic tests. This can be time-consuming for you, and it may delay diagnosis and treatment.

In the early stages of the evaluation, you may see some signs suggesting that your patient has a rare illness, but if your patient needs to have confirmatory treatments done, you have to home in on the unique characteristics of that illness for a quicker diagnostic evaluation. This can mean detailing unusual symptoms, exam findings or family history in a prominent portion of the patient’s chart — or even taking time out of your busy schedule to call the insurance company to argue for approval.

4. Help Your Patient Feel Less Isolated

Some people may become overwhelmed and discouraged when they find out they have a rare illness. Directing your patient to a specialty clinic can help alleviate some of their anxiety if they fear that no one knows how to manage their situation. Of course, if you’ll be the main director of their care, you may need to reassure your patient (and/or yourself) that you’re ready to do so. Consider taking a continuing medical education (CME) course to become up to date on the best management options.

Another way to help your patient cope with a rare disease is to direct them to a support group. Depending on the medical condition, some support groups meet in person and others lend each other friendship and share information online. In fact, an article in Archives of Disease in Childhood describes support groups as the force behind a hidden revolution in healthcare. The authors note that support groups provide tremendous value for patients with Cockayne syndrome (CS), an uncommon illness, reporting that “although almost 500 scientific and clinical papers had been published on CS, many questions could not be answered by the professionals.” The article further explains that support groups were better able than healthcare providers to direct patients to optimal care when information was lacking due to unfamiliarity with the disease.

Primary care physicians are often on the front lines when it comes to diagnosis. Regardless of your specialty, though, you may find yourself taking care of patients with very rare diseases. Know that you have what it takes to play an effective role in their care. Every detail might not always be right at your fingertips, but you can efficiently reach the right diagnosis and create a plan to give your patient the best care possible.

Heidi Moawad MD

Heidi Moawad MD

Heidi Moawad MD is a neurologist and a medical writer and editor. Dr. Moawad is the author of Careers Beyond Clinical Medicine and founded nonclinicaldoctors.com.

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