Wednesday, 13 January 2016

Sharing perspectives on rare diseases between families and clinicians

On the 20th November SITran hosted a study day on rare diseases. A rare disease is defined as one which affects less than 1:2,000 people. While rare diseases are individually uncommon, the large number of rare diseases (>6 000) means that they collectively affect a significant proportion of the population, 1 in 20 people by some estimates.The study day was designed to allow dialogue between rare disease clinicians and families affected by a rare disease.

The Sheffield hospitals (Royal Hallamshire, Northern General and Sheffield Children’s Hospital) collectively provide clinical services for a wide range of rare diseases and Sheffield clinicians gave several talks. Dr Meena Balasubramanian spoke to the audience about how rare genetic forms of “brittle bone disease” (osteogenesis imperfecta) are diagnosed and treated. Dr Oliver Quarrell discussed Juvenile Huntington’s disease and models of care for this. We were also fortunate to host Dr Brian Wilson, Great Ormond Street Hospital, who gave a talk on how to work with patient support groups to facilitate research, and Dr Marion McAllister, Cardiff University, who described methods of measuring the clinical value of genetic counselling. Representatives of the Syndrome without a name charity ( gave powerful accounts of their experience of living with children who have a rare disease for which a diagnosis has not been reached. 

In the afternoon there was an informal discussion group, facilitated by Rosie Duncan, Sheffield University, with family members on the challenges of living with a rare disease. Several important points emerged from this. Families felt they had considerable expertise on their relatives’ illness and wished clinicians to pay more attention to their opinions. It was felt that it would be more useful to involve families in the design of clinical services and training of clinicians. Family members expressed the feelings that it was frustrating to have to repeatedly recap their relative’s medical history to different medical teams, and that clinicians should read notes fully before appointments. Patient support groups were felt to be very valuable, especially for “signposting” further sources of help. The general points to emerge from the discussion were fed back to the whole group at the end of the meeting to help clinicians understand the perspective of families affected by rare disease. 

The meeting was generously funded by the SPARKS childrens charity 
( and Kindness for kids ( The SPARKS grant enabled us to provide travel and accommodation for our external speakers and family members attending for the day. The Kindness for Kids grant enabled us to hire the venue, pay for lunch and coffee breaks. This meeting would not have been possible without the generous funding of these two charities and I thank them.

By Dr Alisdair McNeill

Alisdair is a Senior Clinical Research Fellow in Neuroscience & Clinical Genetics research at @INSIGNEO & SITraN groups and a Honorary Consultant in Clinical Genetics at the Sheffield Children's Hospital. You can follow Alisdair on Twitter @am_sheffgenet and on Researchgate.

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