Rare is different: why doctors are often stumped by rare disorders

Frieda Hernandez

Siren Interactive

(Continued from “Rare is different: how empowered patients and caregivers are changing marketing for rare disorders”)

As we continue with part two in our “Rare Is Different” series of posts, we look at issues that can limit a physician’s ability to effectively diagnose and treat rare disorders.

There are more than 7,000 rare disorders or “orphan” diseases, each affecting fewer than 200,000 people in the U.S.1 In Europe, a disease is considered to be rare when it affects one person per 2,000.2 Given the small universe of patients, a typical physician might never encounter a patient with a rare disease over the course of his or her entire career. It’s understandable that most physicians develop expertise to do the greatest good for the largest number of patients.

The zebra approach to diagnosis

Physicians are trained to arrive at a medical diagnosis by starting with the potential causes that are most common. The adage is “When you hear hoof beats, think horses—not zebras.” This is logical and effective if a patient has a common disease. But the diagnosis of a rare disease obviously requires a unique approach.

Some diseases are so rare that the only way they can be diagnosed is through genetic testing by a geneticist.

“Given the small universe of patients, a typical physician might never encounter a patient with a rare disease over the course of his or her entire career.”

If I read and memorized two medical journal articles every night,

by the end of a year I’d be 400 years behind.

Donald Lindberg, M.D., Director of the U.S. National Library of Medicine

Misdiagnosis is common

The most basic goal of a physician is to accurately diagnose a patient’s disease and to initiate an effective treatment as soon as possible. Tragically, many patients suffer their entire lives with a rare disease that is never diagnosed. For those who eventually receive a correct diagnosis, it’s common for the process to have taken from seven to 10 years.

Beyond the inherent frustration and expense incurred from this series of misdiagnoses, the patient suffers the adverse effects of disease progression without an effective treatment. In addition, they must endure the temporary, and sometimes permanent, side effects from misdirected treatments prescribed for the conditions that were incorrectly diagnosed.

A study published by the Mayo Clinic found that the true cause of an illness had been either missed or misdiagnosed in roughly 20 percent of patients who underwent autopsies after dying in the intensive care unit.

In a recent article in AARP The Magazine, William Gahl, M.D., Ph.D., director of the Undiagnosed Diseases Program of the National Institutes of Health, noted how patients who go for years without a diagnosis often are “medical disasters.3

They may be given diagnoses based on spurious test results that lead to treatments that are inappropriate or even harmful,” he says.

“For those who eventually receive a correct diagnosis, it’s common for the process to have taken from seven to 10 years.”

Patients can help educate physicians and connect to KOLs

Pharmaceutical companies have always played an important role in educating physicians about therapies. But patients and caregivers also help educate healthcare providers on multiple aspects of rare diseases by researching medical literature for information on symptoms, diagnosis and treatment. In addition, their input often includes identifying knowledgeable medical specialists and ongoing clinical trials for new medicines.

Nobody has a greater incentive for an accurate diagnosis and effective treatment than the patient suffering with an undiagnosed disease. Although not all healthcare professionals are receptive to information provided by the empowered patient, most physicians working in rare diseases welcome patient collaboration.5

• 80% of physicians use the Internet to verify information from a patient.

• 83% of physicians rely more on the Internet than in the past for clinical practice.

• 86% of physicians have used the Internet to gather health, medical, or prescription drug information.6

Figure 1: Catherine’s personal story is one of several featured in Uncommon Challenges, Shared Journeys: Stories of Love, Hope and Community by Rare Disease Caregivers7

Patients can help find and support researchers

Matt and Lori Sames are the parents of three beautiful girls. Their youngest, Hannah, was diagnosed with Giant Axonal Neuropathy (GAN), a rare genetic disorder, in 2008. At that time there was no treatment or foundation for GAN.

Neurologists who practice for 30 years never see patients who have this,” said Matt. “The doctors give you the death sentence and then you have to learn to cope. And we just couldn’t accept that.

Lori and Matt contacted GAN researchers around the world and invited them to a symposium in 2008. The 22 scientists who participated reached a consensus to develop a gene delivery treatment. Hannah’s Hope Fund was created to connect with researchers and families worldwide to raise awareness and funds for a treatment of GAN.

As a result, a gene delivery treatment has been developed and a final round of testing is being performed before embarking on safety studies required by the FDA to begin a clinical trial.

Pharma marketers of rare disorder therapies can more effectively partner with physicians by:

• Recognizing the limitations of physicians to diagnose rare diseases.

• Facilitating the collaboration of patients and caregivers in educating physicians about rare diseases.

• Helping to educate pediatricians and other frontline physicians to increase the diagnosis of rare diseases.

• Providing more patient information to help physicians meet the complex and diverse needs of rare disease patients and caregivers, and to increase treatment adherence.

Part 3 of this series – ‘Rare Is Different: Patients &amp, Caregivers Are Key Drivers of Diagnosis and Treatment’– will be published on 30th September.


1. http://rarediseases.info.nih.gov/Resources/Rare_Diseases_Information.aspx

2. http://www.orpha.net/national/GB-EN/index/about-rare-diseases/

3. http://www.aarp.org/health/conditions-treatments/info-06-2011/what-to-do-when-your-doctor-doesnt-know.html

4. http://primaryimmune.org/

5. http://sirensong.sireninteractive.com/participatory-medicine/can-a-patient-ever-know-too-much/

6. Hall &amp, Partners and Google Custom HCP Study, November 2009. http://www.gstatic.com/ads/research/en/2009_ConnectingwithPhysiciansOnline.pdf

7. http://press.sireninteractive.com/

About the author:

Frieda Hernandez leads business development, marketing and alliance activities for Siren Interactive, a relationship marketing agency focused on rare disorders. She upholds Siren’s reputation for authenticity and transparency in creating trust relationships with biopharmaceutical executives, patient advocates, opinion leaders and other key stakeholders in the rare disorder community. She is an avid participant in industry conferences and social networks to stay abreast of all the current issues in pharmaceutical marketing in the rare disease niche. For more information, email Frieda at fhernandez@sireninteractive.com, follow her on Twitter at http://twitter.com/#!/friedah03, or visit www.sireninteractive.com.

How can pharma marketers of rare disorder therapies partner with physicians more effectively?