Survey: Rare diseases in the UK

Rare disease patients are getting lost in the system

“I have a genetic disease but was not diagnosed until I was 42, although I had attended a chest consultant regularly since the age of seven,” says a patient with primary ciliary dyskinesia who responded to the survey. This is just one of the many shocking stories that Rare Disease UK (RDUK) collected as part of their patient survey and the picture is indeed a bleak one. Delays in diagnosis, misdiagnosis (often multiple times), great difficulties in accessing correct information, lack of support, poorly coordinated care, lack of effective treatment, inconsistencies in access to medicines, lack of information and opportunity to get involved in research… There is not a single aspect of a rare disease patient’s life that comes out unaffected in the report entitled “Experiences of Rare Diseases: An insight from patients and families”.

A questionnaire was sent out to all RDUK’s members (over 600) and many of their patient organisation members also forwarded it to their own members. 570 valid responses were received and a total of 119 different rare conditions are represented in the survey. “We are very aware of the problems faced by patients and families affected by rare diseases in the UK. We hear from patients time and time again that they face similar issues regardless of the disease they are affected by. We were eager to capture these in a quantifiable way to support our arguments,” says Stephen Nutt of RDUK. The British National Alliance will be launching a report outlining their recommendations on a strategy for rare diseases in the UK on Rare Disease Day 2011. “We conducted the study at this time, both to gather evidence to inform this report, but also as a more patient-experience focused tool to help us in raising awareness of the issues faced by patients and families.”

The report on the study has been disseminated widely to raise awareness and the launch was well covered by the media. This is the first study of this scope in the UK and the massive response reveals a lot of frustration and expectations on the part of patients and families. “What is perhaps even more concerning is that the majority of people that responded are in contact with patient organisations and many have specialist services for their condition. There are probably many more patients that are completely lost in the system with no support. I worry that in actual fact, the situation might be even worse than the study suggests,” says Stephen Nutt. One recurring feeling that patients confide in the study is how isolated they feel in the system, having to visit multiple specialists, many hospitals, often travelling long distances for medical appointments, repeating their story over and over. “You are made to change from children’s services to adult services at 18 and immediately you find out you’re now left with no direction. For example, adult services don’t continue checking your heart and breathing function until you ask for it”, reveals Carl Tilson, a young man from Manchester who has been living with Duchenne muscular dystrophy for 23 years and was diagnosed when he was five.

The theme of Rare Disease Day 2011 being “Rare Diseases and Health Inequalities”, RDUK’s study could not be more timely. The experiences of patients and families of diagnosis, for example, can vary greatly, raising concerns about equality of access and fair treatment in different parts of the country. “The results of RDUK’s survey hammer home the need for a co-ordinated 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 National Health Service because they have the misfortune of their condition being rare,” says Alastair Kent, Chair of RDUK.

Some statistics of the UK survey:

• 46% of patients with rare diseases had to wait over a year for final diagnosis. Of these 20% waited over five years and 12% over ten years
• 46% were given incorrect diagnoses
• 52% of respondents felt they hadn’t been given enough information on their condition following diagnosis
• 25% of patients attend 3 or 4 different clinics
• 45% were not aware of a specialist centre for their condition
• 57% had not participated in any research
• 37% of patients do not have someone who they can approach with questions on their condition.

Read more:
A summary of the key findings
Full report

This article was first published in the February 2011 issue of the EURORDIS newsletter

Author: Nathacha Appanah
Photo credits: © Rare Disease UK