W L
AMY AND THE LEGACY SHE LEFT HER FRIENDS …
“ Mum ” she said , with the hugest smile on her face “ She looks like me .”
That was the moment that took more than 10 years in the making . When Amy and her family from Wirral were told by specialist doctors in America that young Amy had a rare genetic disorder called Cockayne Syndrome .
Amy ’ s mother Jayne had spent many years trawling the internet , visiting libraries and speaking to anyone who may be able to help her . After Amy was born 12 weeks premature in 1991 , Jayne had noticed that despite her reaching her milestones in walking and talking , her growth was delayed , and she struggled to put on weight .
When Amy was a toddler , geneticists told Jayne that what was affecting her was something rare and that she may have a shortened life expectancy , but they didn ’ t know what it was .
By the age of 12 , Amy was still undiagnosed , and now , sadly , was suffering many other symptoms . Her growth was very restricted , and she now dragged her left leg when walking , lost her balance frequently and had developed a ‘ Parkinsonian type ’ tremor .
Then , as part of Jayne ’ s research , she found a picture of a child who looked remarkably similar to Amy . The child had a condition called Cockayne Syndrome . Searching for more information was difficult as there wasn ’ t a support group or any doctor in the UK with an interest in this disorder .
Looking for answers , the family told Amy ’ s story to a local newspaper , and the whole of the Wirral rallied around trying to help get a diagnosis . One of their neighbours sent the article to his friend in Boston who had many medical connections , and within days the family received a phone call from a specialist asking if they could make the journey over to the States .
That led them to the reception of a Boston hotel , where , in a crowded room , Amy met the first person that looked like her .
The doctors explained that while this was a rare genetic condition , there would be other children around the world like Amy . Jayne immediately called her husband , Mark , “ I just said we ’ re going to find them , and so our charity Amy and Friends was born .”
Amy and Friends which has its head office in Oxton , is now 17 years old and has over 6000 members . In 2019 , the very first Rare Disease Clinic for Cockayne Syndrome and a related disorder called Trichothiodystrophy ( CS and TTD ) opened its doors at Guy ’ s and St . Thomas ’ NHS Foundation Trust hospital in London , with Amy being the first patient .
The charity organises for families to have transport , an overnight stay , and a friendly team to support them during their visit . Five families are seen twice a month .
Every year , Amy and Friends holds an annual conference locally for families and specialists who travel from all corners of the globe . It is with pure delight that Amy ’ s family witness children meeting for the first time .
Tragically , Amy lost her battle against this dreadful illness on 1st January 2020 . Jayne said , “ She was the bravest and happiest person we have ever known . She lit up every room she entered , loved everyone she met . Even when she could no longer walk , she still insisted on jumping out of planes , snowboarding , or cycling to raise money to help her friends . She smiled and gave love right until the end .”
The following year , the second Rare Disease Clinic for CS and TTD was opened in Holland with the help of Amy and Friends Netherlands ; and Amy ’ s 22-year-old brother , Jonathan , is currently working on a master ’ s degree in Molecular Biology . Jayne said , “ It has been his lifelong desire to find a treatment or cure for these DNA repair disorders . We are extremely proud that he will be working with one of the specialists from the States on a gene therapy project that has just been awarded funding from the FDA .”
Jayne , and many people she has met along the way , continue to fight for the children , young people and families who live with this illness and for those to come . She keeps every family and the hundreds of children who have lost their lives in her heart on this vitally important journey .
If you would like to learn more , please visit www . amyandfriends . org or if you would like to volunteer or fundraise , please email Jayne at : jayne @ amyandfriends . org .
10 wirrallife . com