IMPORTANT DRUG INFORMATION

Metronidazole (also known as Flagyl® or Metrolyl®) may cause acute liver failure in children with Cockayne syndrome and should be avoided. Please alert your doctors to this.

Health professionals can obtain further information from
Dr. Brian Wilson

Any further drug reactions in this patient group should be reported to the regulatory authorities in your own country.
 
Amy was born early by C. Section and at around 14 months it was apparent that she had growth but not developmental problems. After birth Amy grew and put weight on very slowly.
  She was a very active baby and toddler but almost refused to eat until she reached the age of six.

Various tests were carried out on her but they were all inconclusive and she remained undiagnosed. At around the age of twelve Amy began to deteriorate, 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 was 'clinically' diagnosed aged 15 years. Doctors in the UK were unable to diagnose her and she flew to Boston children's hospital USA and was clinically diagnosed there.

In 2015 Prof Ogi in Japan found 3 mutations on xrcc4 gene in Amy.

Pictures to the left are Amy with Steven Gerrard & Amy with Louis Walsh

“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........”

The pictures below are Amy and Duchess of York and Princess Beatrice, Amy and Sinitta, Amy and Duncan Bannatyne.
 
           
 

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 Dr Kang (neurologist) 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 is a happy, loving, fun girl. She has a huge personality despite her many problems and when you are in her company you feel a tremendous sense of love.

To date: Amy continues to deteriorate but not without a fight - she is a source of inspiration to all those who know her.