Joining the hidden revolution in rare diseases: working with family support groups

Cockayne syndrome (CS) is a rare genetic disorder, characterised by impaired growth and microcephaly, developmental delay and premature pathological ageing. Affected children often develop cataracts, retinal degeneration, hearing loss, muscle weakness and contractures as part of the condition. The mean age at death is 8.4 years. When the authors first met, the Amy and Friends support group was only a few years old, having been established to enable families affected by CS to share and learn from each other’s experiences. Since then, the organisation has grown to be the largest provider of support and advocacy for families affected by CS worldwide, both in person and through social media. Jayne Hughes is founder and chief executive of the organisation and Amy’s mother. Brian Wilson joined the clinicians and scientists already associated with Amy and Friends as a clinical geneticist with a special interest in CS. Here we share some of the lessons we have learnt for effectively working together. Each year, families and professionals from around the world gather for the Amy and Friends family and medical conference. A recurrent concern raised by families was lack of awareness of CS among health professionals. Indeed, some mothers have been berated by clinicians who assumed their child’s problems had been caused by cocaine consumption during pregnancy, not realising that the disorder had been named for Edward Cockayne, the British paediatrician who first reported it in 1936. Families wanted practical information about what to expect for their affected child and how best to care for them. Many also wanted to establish whether issues they had experienced were unique to their child or unreported features of CS. Although almost 500 scientific and clinical papers had been published on CS, many questions could not be answered by the professionals. However, other families were able to respond, …