Rare diseases burden patients, caregivers

For those suffering from heart or lung disease, cancer, systemic infections or other all-too-common conditions, the science of medicine has made extraordinary advances over the past few decades. But millions of patients afflicted with an uncommon and little-understood disorder often are consigned to the far margins of medical care, in many cases, for years.

More often than not, patients suffering from a rare disease face a years-long odyssey of misread diagnoses, visits to different doctors and severe economic and emotional strain before their condition is properly diagnosed and effectively treated. That’s the conclusion reached by researchers and unveiled in a report presented at the World Orphan Drug Congress in April

in Washington.  

Based on a survey of more than 1,000 American and British patients with rare conditions and their caregivers, physicians and health plan payers, the Rare Disease Impact Report “for the first time, identifies and quantifies the psychosocial and economic impact of rare diseases,” according to its sponsor, Shire. And that impact, say the report’s authors, can be devastating.

“According to patients surveyed, it takes on average 7.6 years in the United States [and] on average 5.6 years in the United Kingdom for a patient with a rare disease to receive a proper diagnosis,” noted the report. What’s more, researchers reported, “in order to get a proper diagnosis, a patient typically visits up to eight physicians,” including four primary care doctors and four specialists.

The rare nature of many uncommon conditions masks the impact they have when looked at as a whole, noted Nicole Boice, CEO of Global Genes RARE Project, a patient advocacy organization that participated in the research project. “While individual rare diseases are uncommon and disparate, there are 7,000 rare diseases that affect more than 350 million people worldwide,” she pointed out.

Among the survey’s specific findings:

• Doctors, patients and caregivers are plagued by a “lack of resources and information to address rare diseases” in both the United States and United Kingdom. In the United States, nearly all physicians surveyed said treating and diagnosing a rare condition was difficult and required multiple office visits. And roughly half of physicians said that “medical professional organizations do not give enough attention to rare diseases.” What’s more, both primary care physicians and specialists said they often don’t have the time to diagnose and treat such diseases;


• Diagnosing and managing a rare condition can wreak havoc on a patient’s finances, particularly in the United States, with its lack of national health coverage. “Although 90% of patients surveyed reported they had health coverage in the United States,” noted the report, “55% of U.S. respondents incurred direct medical expenses not covered by insurance, compared with 18% of respondents in the United Kingdom not covered by the National Health Service.” And 37% of respondents, noted the authors, “borrowed money from family and/or friends to pay for expenses in the United States, compared with only 21% of respondents in the United Kingdom.” Result: “The long road, which frequently includes numerous tests and physician visits, can become financially overwhelming, particularly for those in the United States,” the report stated. Payers also complain about “the lack of [coverage] standards and guidelines” for those with rare and hard-to-treat conditions; and


• Rare diseases take “a major emotional toll on patients/caregivers,” researchers reported, “particularly for those where the hope of treatment is minimal.” Indeed, U.S. physicians told researchers that 75% of their patients with rare conditions suffered from depression, and 86% showed symptoms of anxiety and stress. Feelings of isolation from family and friends afflicted 65% of those patients, according to the physicians polled. “The health-related quality of life is significantly lower for those with rare diseases,” noted the authors.

The lack of readily available information about little-known conditions also means that “patients and caregivers … must wear many hats” as their own disease researchers, care coordinators and advocates, according to the report. Two-thirds of the U.S. patients surveyed (67%) told surveyors they had to provide health professionals with their own information on their rare condition.

“When it comes to a disease that very few patients have, doctors often can’t provide answers to the many questions that arise,” noted the report. Among those questions is what causes the disease, whether it’s hereditary, what treatments are available, how the disease might progress, whether diet can slow its progress and what support networks exist.

“The entire care journey for many patients is characterized by misdiagnosis, conflicting medical opinions and emotional stress,” Boice said.

Shire spokesman Alec Drozdowski called the survey results “truly startling, showing that diagnosing and treating rare diseases is an extreme challenge within the healthcare community.”

Flemming Ornskov, a physician recently tapped as CEO of Shire, called the findings “sobering,” and expressed the hope that the report “will help drive forward a collaborative effort with the patient and medical communities to address the unmet needs identified.”