Amy was born 12 weeks early by caesarean weighing 2 pounds 11 ounces.  She was a poor feeder,  from the start, with no interest in feeding. Amy was very active as a baby/young child and almost lived her life on ‘fast forward’.  She grew very slowly and struggled to gain weight, she had no interest in food.  She met her development milestones.

From the age of 18 months, various genetic tests were carried out on Amy, in the UK, but they were all inconclusive and she remained undiagnosed.  At age 5 Amy weight 28 pounds.  Amy began to deteriorate after her 11th birthday onwards, her balance and gait became unsteady. She began to walk with a stooped posture and began falling, her speech deteriorated and she developed a tremor. She then began to wear strong glasses and had moderate hearing loss.

Amy travelled across the UK in search of a diagnosis and eventually visited Boston Children’s Hospital USA.  A blood test discovered a variation on ERCC6 and this, together with her appearance and symptoms led to a ‘clinical diagnosis’ of Cockayne Syndrome.

In 2015, Amy’s DNA sample was sent to Prof Ogi in Japan who found 2 further variations on XRCC4.

Amy’s doctors were asked by her parents if she could be given a Parkinson’s disease drug to help with her tremors, they were then sent to meet Prof Peter Kang who agreed to trial Amy with a drug which proved successful. Within ten days Amy’s tremors had essentially gone, she was more ‘switched on’ and able to do basic tasks again.

Amy (2009) “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 underactive 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.”

Amy (2020) “My name is Amy – I am 28 and on 1st January 2020 at 12.15 I became an angel. My life has been amazing – a doctor once said that because of my degenerative illness (Cockayne Syndrome) I would have no friends – how wrong you were – I literally have thousands and thousands of friends.

When I was 10 a headteacher of my school said that I would never be like others – I’d never have a job – I have had and still have the most important job ever – my job was and is to teach the world about Cockayne Syndrome/XRCC4/Trichothiodystrophy and I have done my job with dedication. I have helped mummies, daddies, brothers, sisters, friends, doctors and people I don’t know. I have taught them how to love, how to laugh, how to never give up.
I have taken my final earthly breath and now I am free to fly to my many friends who are waiting for me. Imagine the joy I am experiencing.

To those of you that I leave behind – I know you’ll cry for me – I want you to cry for a little bit and then I want you to stop and live your lives – make sure you live them well.
Do as I once could – dance, light up the room, sing as loud as you can – who cares if you’re not in tune! Take time for your friends – have a cuppa with them – tea was my favourite, 2 sugars (Mum I know you only put half a teaspoon in but I made everyone else put 2 teaspoons in!!) Take joy from the smallest of things and most of all love with all of your heart.
Know that I am keeping you in my heart and we will meet again one day.

A lovely Indian doctor once gave me a name Diyaa (pronounced dear) – he said it was a little clay lamp that shined brightly giving warmth and light to everyone who saw it……I will keep shining and sending you lovely warm fuzzy feelings when you think of me….

In the meantime look for rainbows, butterflies and Minis (my ultimate dream was to buy a pink mini, drive to my true love Nick and go on a road trip to Disney!)

I love you all – but you know that already.

Share my story and think of me – I love you!”