Overview of Experiences of Rare Diseases: An Insight from Patients and Families

There are over 6,000 recognised rare diseases each with different symptoms and prognoses, yet our research highlights that patients and families frequently face common problems regardless of which rare condition they are living with.

Some of the common problems experienced included:

• Difficulties in securing a correct diagnosis, with patients often reporting severe delays in diagnosis and multiple misdiagnoses.
• Patients and families struggling to access information on their condition and experiencing a lack of support with both their medical and non-medical needs.
• Patients reporting that their care is badly coordinated, particularly around the time of transition from paediatric to adult services.
• Patients having difficulties in accessing all the services they require for their condition.

Alastair Kent, Chair of Rare Disease UK, summarises our findings: “Many people living with rare diseases and their families have to go through years of medical tests and procedures before an accurate diagnosis can be made. Not only is it often a battle to get an accurate diagnosis, patients and families then struggle to find out the medical impact of a condition and how to manage it, on top of having to cope with day-to-day life without adequate support.”

While most patients face major difficulties, positive instances of timely diagnosis and good quality care and support were indicated by some. This highlights the inequalities that exist in services received by patients with different rare diseases, and even between those affected by the same rare disease in different parts of the country. This raises serious concerns about equality of access and fair treatment. Good practice should be the norm rather than the exception.

Alastair explains that the results hammer home the need for a coordinated UK-wide strategy “for the diagnosis, treatment and research of rare diseases. This is a hugely important issue that needs to be tackled; patients and families should not have to face an inequitable level of care from the NHS because they have the misfortune of their condition being rare.”

Patients and families often reported that patient organisations play an essential role in providing them with information and support. They provide help and assistance to patients with getting a diagnosis, and accessing appropriate services, information and support throughout the progression of their condition. They are also important sources of guidance for patients considering participating in groundbreaking research, vital to enable the development of new therapies, diagnostic tests and preventative measures.