The Rare Reality: An insight into the patient and family experience of living with a rare disease

Specialised help and services for children and adults with rare or undiagnosed conditions has always been hard to find - or non-existent - and often, parent carers and patients themselves have found the only way to find the treatment and support they need is to get involved themselves.

rduk reportPatient groups like Genetic Alliance UK and many smaller groups collaborated on the UK Strategy for Rare Diseases that was released in 2013. As a result of the report and the annual Rare Disease Day, (29th Feb 2016) the spotlight on improving the lives of everyone with these 6000+ conditions has never been brighter. Rare conditions are now higher up the agenda for clinicians, policymakers and the media than they have ever been.

Over the summer at Genetic Alliance UK, we carried out a survey to get an up-to-date picture of patient experiences to see if anything has changed since our first report on patient experiences in 2010. The next couple of months were spent analysing the survey and conducting in-depth interviews with patients and family members in order to further our understanding of their experience of rare disease. The final report was launched this week.

Sadly, the report showed that very little has changed for rare disease patients in the last five years. Patients, both children and adults, are still experiencing difficulties in diagnosis, accessing information about their condition, receiving appropriate coordinated care, accessing treatments and finding out about research. The report highlights the reality of rare disease patients, putting an emphasis on their experiences in their everyday lives. That reality is that changes in the lives of patients, as a result of awareness, are not living up to our expectations. This makes the implementation stage of the UK Strategy for Rare Diseases even more important.

The family experience of life with a rare condition

The report was launched at the Rare Disease UK (a part of Genetic Alliance UK) conference and key findings of the report include:

  • Patients and families are given very little information about their condition. 70% of respondents did not feel they were provided with sufficient information following diagnosis.
  • Patients are frequently left to research their condition alone. Patients often become an expert in their own condition and are often left to inform and educate the medical professionals they encounter.
  • Patients face significant delays on their journey to secure a diagnosis. 45% of all respondents waited over a year.
  • The majority of patients (52%) receive at least one incorrect diagnosis/diagnoses, and visit numerous doctors, before they receive a final diagnosis. 37% receive 3 or more incorrect diagnosis.
  • Patients can experience issues in persuading medical professionals to believe their symptoms and describe how their condition is initially written off as ‘psychological’ or, parents are described as ‘neurotic’.

RDinfo2rare disease info

We also calculated the ‘estimated average’ for a number of key issues around rare disease, including diagnosis, misdiagnosis and coordination of care. One parent said:

“We were given no information at all when Katie was diagnosed at the age of thirteen. I asked the doctor, who said he didn’t have any and that I should Google it when I got home. It was terrifying: there was simply nothing available then. Fear of the unknown is horrendous. . I did find a forum for IIH patients and families, which has since become a registered charity, IIH UK, for which I am treasurer. Being able to speak to other people, other parents who were going through the same experience as us, was a tremendous help.

Everything’s running smoothly now and it’s how I wanted it to be. If I could change one thing it would be that the information and support which is available now would have been available to us in the early days when we found out she had IIH. There was nothing, no information, no care plans, no treatment plans or anything. Even now, doctors will just treat their patients however they think they should be treated. We’re lucky Katie has better coordination and the treatment that’s right for her but there’s no care plan even today – and we’re working to change that” Shelly, mother of Katie who has idiopathic intracranial hypertension.

You can read the report which has lots more information and family stories  here.

You can see a summary of the meeting as it happened on Twitter below:

Emily Muir, Genetic Alliance UK
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Emily Muir, Genetic Alliance UK

Policy & Public Affairs Officer at Genetic Alliance UK
I studied Biomedical Sciences at the University of Warwick and previously worked in the field of Learning Disability - interning for the Challenging Behaviour Foundation. I firmly believe that the patient experience should inform all aspects of policy and public affairs.
Emily Muir, Genetic Alliance UK
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