Experiences of Rare Diseases: An Insight from Patients and Families Unit 4D, Leroy House 436 Essex Road London N1 3QP tel: 02077043141 fax: 02073591447 [email protected] www.raredisease.org.uk By Lauren Limb, Stephen Nutt and Alev Sen - December 2010 Web and press design www.raredisease.org.uk WordsAndPeople.com About Rare Disease UK Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. Our membership is open to all and includes patient organisations, clinicians, researchers, academics, industry and individuals with an interest in rare diseases. RDUK was established by Genetic RDUK is campaigning for a Alliance UK, the national charity strategy for integrated service of over 130 patient organisations delivery for rare diseases. This supporting all those affected by would coordinate: genetic conditions, in conjunction with other key stakeholders | Research in November 2008 following the European Commission’s | Prevention and diagnosis Communication on Rare Diseases: | Treatment and care Europe’s Challenges. | Information Subsequently RDUK successfully | Commissioning and planning campaigned for the adoption of the Council of the European into one cohesive strategy for all Union’s Recommendation on patients affected by rare disease in an action in the field of rare the UK. As well as securing better diseases. The Recommendation outcomes for patients, a strategy was adopted unanimously by each would enable the most effective Member State of the EU (including use of NHS resources. the UK) in June 2009. The Recommendation calls on Member States to adopt plans or strategies for rare diseases by 2013. Contents Chair’s Foreword ........................................................................................................................2 Introduction ................................................................................................................................3 Summary of Key Findings ...........................................................................................................................4 Research .......................................................................................................................................5 Carl Tilson’s story.......................................................................................................................7 Diagnosis .....................................................................................................................................8 Jayne Hughes’ story .................................................................................................................12 Anna Pickering’s story..............................................................................................................13 Jo Grey’s story .........................................................................................................................14 Patient Care, Information and Support ...................................................................................15 Anne Begg MP’s story .............................................................................................................18 Rhya Homewood’s story ..........................................................................................................19 Fiona Fisher’s story...................................................................................................................20 Coordination of Care ................................................................................................................21 Kay Parkinson’s story ...............................................................................................................25 Craig and Gemma Mitchell’s story ...........................................................................................26 Toby Mildon’s story .................................................................................................................27 Charles and Miranda’s story.....................................................................................................28 Access to treatment ..................................................................................................................29 Gillian Thomas’ story ...............................................................................................................31 Annex 1: List of conditions represented in the survey ..........................................................32 Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences Rare Disease UK (RDUK) | 1 Chair’s Foreword Advances in scientific research over the last two decades have highlighted the emerging possibility of addressing the needs of patients and families with rare genetic disorders in ways that would have been dismissed as science fiction only a few years ago. This gives rise to great optimism about the future. However, future possibilities must not blind us to the situation of patients and families struggling with the daily reality of life with a rare disease today. This survey, reporting the The evidence reported in the experiences of nearly 600 pages that follow highlight families with rare diseases across the need to act now to bring the UK, is one of the largest services and support together that has ever been carried out. in a strategic, coherent plan to The picture it paints is a bleak utilise knowledge and resources one, with significant numbers effectively and in so doing, reporting delays in diagnosis. produce the best possible benefits Wrong diagnoses are common for patients and families given (sometimes happening two, three current scientific understanding of or more times). Access to specialist good clinical practice, delivered in knowledge and expertise is too a timely, user-friendly way. often fraught with difficulties and unnecessary institutional obstacles get in the way for patients and families seeking the help and support they need and should be able to expect. Alastair Kent Chair of Rare Disease UK Director of Genetic Alliance UK Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences 2 | Rare Disease UK (RDUK) Introduction Over the summer of 2010, Rare Disease UK (RDUK) carried out a survey of patients and families affected by rare diseases. The aim of this survey was to find out more about the experiences of people living with a rare condition in the UK, and to identify some of the common issues and problems they frequently face. At RDUK, we are too Of the 570 valid responses, 47% in Wales and 3% in Northern often told of the were from the patient themselves, Ireland. The remaining 1% of 49% were from a carer or family responses were patients living in difficulties patients with member of someone with a the Channel Islands. This is broadly rare diseases experience rare disease, and the remaining representative of the population in getting a diagnosis and 4% were from other interested of the UK as a whole and as such accessing appropriate parties which included healthcare demonstrates that we are able services, information professionals responding on to suggest that our findings are behalf of a patient, and carriers of a good representation of the and support throughout a rare disease. general situation in the UK. the progression of their condition. We A total of 119 different rare The results support the need for a therefore felt that it was conditions are represented in national strategy for rare diseases important to conduct a the survey. A full list of these in the UK and complements conditions can be seen in Annex RDUK’s work in investigating survey to gain a better 1. These conditions ranged from what should form the basis of understanding of these ultra-rare to the more “common” a strategy. We believe that a issues and to better rare diseases and included national strategy would reduce understand the scale of chromosomal, single gene, the fragmentation of services the problem. multifactorial and non-genetic and ensure that patients of rare conditions, as well as undiagnosed conditions are able to access The survey covered multiple conditions, “The survey also equitable, high and patients quality care, aspects of rare diseases which highlights inequalities in our members have informed us who suffered information and they experience problems with from multiple the services received by support in a timely different rare manner, whilst including, diagnosis, coordination patients with different of care, awareness and diseases. Despite at the same time participation in research, access the wide rare diseases and even making a more variation in efficient use of NHS to drugs and services, and access between those affected to thorough, reliable information the symptoms, resources. and support. prognoses by the same rare disease and medical Throughout this in different parts of the The online survey was sent out to needs of these publication we all of RDUK’s members, including conditions, the country” have included case patient organisations, many of survey indicated studies of a number which forwarded it to their own commonalities in experiences in of patients or families affected by members. Paper copies were regards to their care, information rare diseases to provide detail on available for those who requested and support. The survey also their experiences and to put some them. highlights inequalities in the of