Amy Garton-Hughes
Age :16

Hiya, my name is Amy and my date of birth is the 28th August 1991.  I have two younger brothers (who are pains!) and a younger sister (who moans a lot!).  I love to go to the cinema and my favourite film is Hairspray.  I also love High School Musical which I listen to almost every day.  I love listening to music and like clothes and having my hair done. 

I like to go out for a meal at least once a week, my favourite food is Chinese and I enjoy sweet and sour chicken with rice!! 

The best thing I have ever done in my life is fly to America and meet my boyfriend Nick.  He is almost the same age as me and last time I saw him he asked me to marry him! 

I have met lots of people who have helped me, football stars, tv stars but mostly other CS kids and my lovely doctors in Boston. 

Sometimes I am very lonely but mostly I am happy. 

Amy was born prematurely weighing 2lb 11oz, she was delivered by C. Section.  She was diagnosed as 'failure to thrive' but despite this began to walk, talk and develop in line with her peers. 

At around age 11 Amy began to have difficulties with gait, falls, tremors, dressing etc.  She developed moderate hearing loss which remains the same today.

Amy's weight, height and head circumference fall below the 3rd percentile.  Her weight is around 75lbs, height around 135cms and head circumference around 45cm.

Amy was given a 'working' diagnosis of Cockayne Syndrome last year by Dr. Ed Neilan at Boston Children's Hospital USA.  Up until then she remained undiagnosed by doctors here in the UK and it wasn't until we met Dr. Neilan that Amy, at last, began to receive physiotherapy and the necessary medical treatment.

Dr. Neilan has found one mutation on the CSB gene and is working to find the second. 

Amy began trialling carbidopa/levadopa last year for her tremors which has worked amazingly well and helped her with every day tasks.  She was also diagnosed with an underactive thyroid and high blood pressure which is caused by kidney problems. 

We have flown to Boston several times over the past year with money raised by the kind people of our local town. 

Amy is always at my side - in fact my elbows were invented for her to link!!  She needs love and attention constantly and gives it in return.  In this harsh world she is a light in the dark.  Her past head teacher once said of Amy 'what she lacks in physical stature she makes up ten thousandfold in spirit' and I remember this always.