These were designed to capture the patient experience of living with one of three specific rare diseases – Congenital Hyperinsulinism, Wolfram syndrome, and Friedreich’s ataxia – as well as rare diseases more generally.
For each report they assembled a panel of people affected by a rare disease, and asked them to share and discuss their experiences of the NHS, the treatments that are available to them, their experience of clinical trials, and the costs of the disease to themselves and their family.
These discussions were designed to highlight the need for new treatments for rare disease patients, as well as improved support and care from the NHS and society at large.
The overall findings from the focus groups include:
- While rare diseases have gained increased attention and interest in the last few years, there is still a lot of work to do. Diagnosis remains a major challenge for the healthcare system, as does the coordination of care for complex, multi-systemic rare diseases.
- Specialist centres for rare disease treatment provide a source of specialist knowledge on rare diseases, and access to the multidisciplinary care they need; however the demands on travel time are high and can be in appropriate for many conditions. Furthermore, information from specialist centres is not always disseminated successfully to local practitioners.
- Coordination of care is a fundamental challenge for all rare disease patients, and patients who try to take control of their own treatment often face a battle to be taken seriously.
- Few rare diseases have available on-label treatments, and the majority that are available are expensive, and may struggle to secure reimbursement. Off-label prescriptions are far from un-common, but lack uniform access and proper monitoring.
- Loss of work is the major cost of rare diseases to patients. This impacts both their finances, but also their social and emotional well-being. Furthermore, lost work is a significant cost to society, both through increase welfare payments, and the loss of many potentially productive people from the workforce.
The findings have been used to produce a series of reports, entitled “Rare disease perspectives”: