Research on the rare disease community is, well, rare. So it was with anticipation that I reviewed Shire’s “Rare Disease Impact Report: Insights from Patients and the Medical Community.” The results provide additional data that support Siren’s six rare disease insights. The report can be downloaded and I advise reading it for all the details, but here are the key findings.
The first finding is around the diagnosis and treatment of orphan conditions. According to the patients surveyed, it took an average of 7.6 years in the US and an average of 5.6 years in the UK to receive an accurate diagnosis. This process typically included two to three misdiagnoses. This long journey to diagnosis can have a significant physical, emotional and financial toll on patients.
The report recommends:
“Greater collaboration among physicians and access to specialists in rare diseases. Patients and physician responses point to the need for increased awareness, more educational programs and additional networking opportunities or platforms connecting general practitioners and patients with appropriate specialists. This may help to expedite the lengthy process to a correct diagnosis.”
The second finding addresses the fact that most rare diseases do not have a treatment and result in higher levels of depression, anxiety and isolation for both patients and caregivers. In addition, finding a knowledgeable physician to manage their rare disease is often difficult and involves travel. The doctors also are challenged. One physician was quoted as saying, “You never see enough of them to build up the experience.” The survey found while it may be necessary to coordinate with other physicians when managing a patient with a rare disease, 76 percent of physicians in the US and 88 percent in the UK said they found it difficult to do so.
As a result of the difficulty to diagnosis, lack of approved treatments and physician specialists, rare disease patients and caregivers often find themselves being the primary drivers of diagnosis and treatment. The data showed that more than 60 percent of patients and caregivers needed to provide healthcare professionals with their own information on their rare disease. More than 50 percent of patients and caregivers said they received conflicting information from different healthcare professionals about treatment options for this rare condition.
The report recommends:
“Additional resources for patients and caregivers to navigate the emotional impact of rare diseases, particularly for those where the treatment outlook is limited. There is a tremendous amount of emotional burden involved with finding credible information and qualified specialists as patients and their caregivers fight and pay for care for an uncommon ailment. Resources or care coordinators that help to navigate this process or ease the emotional burden are warranted.”
Need for more research
The third finding highlights the need for additional research on rare disorders. As a result of a lack of awareness, information and treatment options, these patients and caregivers also often become advocates and start organizations that fill these needs. Lori Sames is an example of a rare disease caregiver who was activated by her daughter’s diagnosis with giant axonal neuropathy. Their organization is now the primary driver and funder of a phase I gene therapy clinical trial.
The report recommends:
“A need for more research to expand the current rare disease body of knowledge. Additional academic and clinical research will ultimately offer patients increased options and provide physicians with more tools to diagnose patients, all while equipping payors with evidence-based guidelines upon which to base coverage decisions.”
The survey was fielded online in January 2013. A total of 144 patients and 132 caregivers responded in the US and 487 patients and 124 caregivers responded in the UK. A total of 466 diseases were represented and included those where treatment is and is not available. The survey respondents included 50 US physicians and 50 UK physicians with experience treating and managing rare diseases. The survey was completed by 20 payors in the US and 20 in the UK and 11 thought leaders in the US and five in UK. The report provides more details about the survey methodology.
A big thanks to Shire for fielding this research and sharing it publicly. The data helps to provide a deeper understanding of the rare disease community.