North WalesFreemasons

Amy suffers from a rare DNA repair disorder called Cockayne Syndrome which gives sufferers an average life expectancy of just over 8 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. At the age of 12, Amy started to fall over and after another unsatisfactory visit to a doctor, Jayne answered her front door to a lady canvassing for a political appointment. Jayne was not in the best of moods and said she was not going to vote for any politician as nobody had helped her. The lady promised to do something and the next day a newspaper reporter called, shortly after, Amy’s story was published.

The day after publication, a man from across the road came over and offered to put Jayne in touch with the Shriners International 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 ageing, and many neurological problems.

Jayne went on to start ‘Amy & 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 & 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 on 20th to 23rd October. This donation will make a big difference to little lives.”

Here is Amy’s Story:

“When I was a little girl I could run and ride my bike but then I got tremors and began to lose my balance. I started to wear glasses and then couldn’t hear very well either. Lots of things started to go wrong with my body which made me sad for a while. Some people can’t understand what I am saying now but if you listen carefully and give me some time you will be able to. I need to use a wheelchair now because my silly legs won’t work properly. My kidneys have gone wrong and I have high blood pressure, an under-active thyroid, a brain tumour (which is unusual for CS), my back is bent, I have horrible acid and I have diabetes which makes me mad because I love sweets and hate needles! I have met lots of friends, some are little babies who I love to cuddle. Some can’t ever walk or talk, some can’t eat or drink without a tube, some of my friends have gone to heaven now – but all of my friends can smile and we smile – A LOT! I help with research programmes and I help to raise money to help the kids.