Dr Rick Thompson
CEO, Findacure
Patient groups can play a large role in supporting patients living with rare diseases, but why do they not yet play a formal role within the NHS?
When we attend the GP with a problem, we expect our doctor to have the knowledge needed to identify the cause and treat it. However, if you have a rare disease, the doctor-patient dynamic can rapidly fall apart.
Patients often exhibit complex symptoms across multiple systems. These can seem unrelated, making a diagnosis harder and a referral pathway unclear. This kind of disheartening experience is hugely damaging to the patients involved. Doctors cannot know everything about every disease, but they can be taught to understand the signs of a rare disease and know how to support patients who present with one.
Whatever their mission, patient groups act as a hub of knowledge and, more importantly, help patients live with their rare disease.
Patient groups fill the void
Currently, the best sources of support, knowledge and guidance for rare patients are patient groups. These are communities affected by a rare condition. Many share personal experiences of life with a disease. Others drive research or collaborate with clinicians to form dedicated medical guidelines for their condition. Whatever their mission, patient groups act as a hub of knowledge and, more importantly, help patients live with their rare disease.
In some much rarer cases, these patient groups gain recognition within the NHS. Patient groups can provide direct support to clinicians and influence services designed to support their rare disease. They coordinate clinics, accept referrals of newly diagnosed patients and support clinical trial recruitment.
A more formal role for patient groups needed
Over the last year, the rare disease community has been actively discussing the Government’s new UK Rare Disease Framework, which is the UK’s latest policy designed to help improve the care received by rare disease patients.
Its major themes – diagnosis, education of health care professionals, care coordination and access to medicines – are all areas that patient groups are already engaged in and can help to drive change further. What they lack is formal recognition from the UK health system and the resources to deliver work at scale.
By fostering more collaborations with these experts in rare disease and finding efficient ways to fund them, patient groups can have a more formal role in delivering the services and support to rare patients around the UK, that they need and deserve. This simple collaborative approach would help the NHS’ mission to deliver equitable care for all.
