Project Story: Amy and Friends – Vision Foundation

Project Story: Amy and Friends

Amy and Friends was founded by Jayne, mother to Amy, the soul and inspiration of Amy and Friends. Amy was clinically diagnosed with Cockayne Syndrome at the age of 15 in Boston, USA after doctors in the UK were unable to find the cause of Amy’s symptoms (sight and hearing loss, problems with mobility and tremors).

When Amy was 10 a headteacher at her school said that she’d never be like others – never have a job – but she did and she has left the most important legacy ever – her job was and is to this day to teach the world about Cockayne Syndrome/XRCC4/Trichothiodystrophy.

Amy and Friends has helped thousands of families around the world with not only medical support but a community. The organisation hosts an annual family and medical conference, twice monthly clinics at the Rare Disease Centre at Guy’s and St Thomas Hospital in London and daily support both online and on the telephone.

On 1 January 2020 at the age of 28, Amy passed away. Jayne, Amy’s mum continues to raise awareness of Cockayne Syndrome/XRCC4/Trichothiodystrophy as well as funds for research. Most importantly Jayne, through Amy and Friends, provides a community and support network to people all around all the world who are affected by this life limiting condition.

 Little-blond-girl-with-glasses-lying-down-on-carpetClinics at the Rare Disease Centre at Guys and St Thomas Hospital

Our funding is helping families attend clinics arranged by Amy and Friends in London.

There is no other support like this available in the UK which means families travel from across the country to access these twice monthly clinics. The clinics are a combination of appointments with all the relevant departments, which are currently dentistry, ophthalmology, audiology, genetics, dietitian, dermatology, OT, psychotherapy and neurology. Rather than have to attend these appointments on different days these can happen all on the same day. For families dotted around the country this saves a great deal of stress, money and frees up valuable time that they can spend together as a family, rather than in hospital.

Amy and Friends arranges transport and accommodation the night before where the families can meet up and the children and young adults can hang out together. Between appointments on the day of the clinic, the organisation provides fun sensory activities and refreshments and a comfortable place to sit before the next appointment.

Find out more about Amy & Friends, Cockayne Syndrome/XRCC4/Trichothiodystrophy and the annual conference.