Shire has published an impact report highlighting "significant gaps" in the diagnosis and care of patients with rare diseases.
Shockingly, the report revealed that it takes, on average, more than seven years to be diagnosed with a rare condition in the US, with the UK faring only a little better with a five-year timeline.
Rare diseases encompass illnesses that affect just a small fraction of the population, and yet, collectively, there are around 7,000 different types impacting an estimated 350 million people around the globe.
According to the report - which draws from more than 1,000 survey responses and was developed by Shire and an external advisory board of experts across medical, advocacy, health policy and health economics fields - a patient typically visits up to eight physicians and receives two to three misdiagnoses before reaching the right one.
Key problems faced by patients right from the start include a lack of doctor access to resources and information and conflicting advice from healthcare professionals on treatment options.
The majority of physicians surveyed said it is more difficult to address the needs of a rare disease patient in a typical visit (92% in the US, 88% in the UK) and more consultations are necessary for the diagnosis of a rare disease (US 98%, UK 96%).
Also, the economic impact of the lengthy process of diagnosing less common diseases and managing them is significant. "The long road, which frequently includes numerous tests and physician visits, can become financially overwhelming, particularly for those in the US as compared to the UK," Shire noted.
Payors also found it difficult to make rare disease coverage decisions because of a lack of standards and guidelines, and almost all surveyed said there is less information/data available to help determine the standards of care (95% in the US, 90% in the UK agreed).
On the patient side, the problematic picture of diagnosis and care is also taking an emotional toll, the report claims.
Several emotional difficulties were reported by patients, including depression (75% in the US, 69% in the UK), anxiety and stress (US 86%, UK 82%), isolation from friends/family (US 65%, UK 57%), and worry based on future outlook of disease (US 90%, UK 91%).
Flemming Ornskov, Shire's chief executive designate, said the report's findings were "sobering", but also expressed hope that they will "help drive forward a collaborative effort with the patient and medical communities to address the unmet needs identified".