For patients with rare diseases, impact goes way beyond the disease itself

It’s tough enough to be afflicted with one of the more than 7,000 rare and poorly understood diseases that plague the world’s population, but patients who fall victim to one or more of those conditions also have to cope with the emotional, physical and financial toll that comes with them. Rare diseases afflict some 350 million people worldwide. And even in the U.S. with its relatively high standard of health care, patients with a rare condition often face a years-long odyssey of misread diagnoses, visits to multiple doctors and severe economic and emotional strain before their condition is properly diagnosed and they can begin effective treatment. That’s according to the Rare Disease Impact Report from Shire Human Genetic Therapies, presented this month at the World Orphan Drug Congress.

For the hundreds of patients polled by researchers in the U.S. and United Kingdom, “it takes on average 7.6 years in the U.S. [and] on average 5.6 years in the U.K. 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.”

Doctors, patients and caregivers are plagued by a “lack of resources and information to address rare diseases,” researchers found in their survey of more than 1,000 patients, caregivers, doctors and payers. That means serious emotional and financial hardship for patients and their families, researchers report, “particularly for those where the hope of treatment is minimal.”

The health system is just not yet equipped to handle these patients. “The entire care journey for many patients is characterized by misdiagnosis, conflicting medical opinions and emotional stress,” said Nicole Boice, CEO of Global Genes RARE Project, a patient advocacy organization that participated in the research project.

What can pharmacists in any setting do to alleviate the hardship? Participating in more collaborative-care efforts can help — both by improving the decision-making platform on which diagnostic decisions and treatment regimens are created, and by integrating points of care and patient records as those patients go through the steps required to properly assess and treat their rare diseases. And, of course, pharmacists can be the patient’s most accessible source of counseling, ongoing concern and help in managing and monitoring a condition, if the pharmacist is working in collaboration with the patient’s complete network of professional care, and is kept in the information loop.

Any other thoughts on what role pharmacists can play for patients going through “the entire care journey?” Please share your thoughts by clicking on the comment link.


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