North Wales Freemasons have donated £1,200 to the local group Amy and Friends, who provide Cockayne Syndrome (CS) and Trichothiodystrophy (TTD) Support
Amy suffers from a rare DNA repair disorder called Cockayne Syndrome which gives sufferers an average life expectancy of just over eight years. Her mother Jayne highlighted the inspirational journey Amy has been on to promote awareness throughout the world and a better understanding of Cockayne Syndrome within the medical profession, uniting families together for support who would otherwise suffer the feeling of isolation
Jayne always thought something was not right with Amy when she was a child, but could not get a diagnosis from any doctor that gave a satisfactory explanation to her symptoms. Jayne was eventually put in touch with the Shriners in the USA, who had a research scientist who specialised in DNA repair disorders in one of their children’s hospitals. Jayne and Amy visited the scientist in Boston and Amy’s disorder was quickly diagnosed.
Amy is a remarkable individual and now 27 year’s old, but like many with the disorder she suffers from loss of sight, hearing, mobility, premature aging, and many neurological problems.
As a result, Jayne went on to start Amy and Friends and now has 13 groups meeting all over the world, including Rhyl and Flint. Jayne highlighted the pressure families face, with parents spending so much time caring for their ill child that other siblings have to take a back seat. The constant challenge to provide care means that often parents are unable to work, placing the family under financial pressure.
Amy and Friends now run annual conferences, where families can get together, socialise, share their experiences and learn about up to date research and treatments that may help. They can also participate in many different activities such as counselling through play for children, a sensory area for children who are losing their sight and hearing, one to one sessions with specialists and also confidence and team building to help with isolation and mental health.
Jayne said: ‘The cost of attending the conference can be a great barrier to families, with accommodation, food and travel. We are very grateful to North Wales Freemasons for their generous support which will provide a vital contribution to families attending our next conference. This donation will make a big difference to little lives.’