Oct 22 2007 by Liam Murphy, Liverpool Daily Post
amy garton hughes
A TEENAGE girl from Wirral could be the first in the world to have a pioneering anti-ageing treatment to combat a crippling genetic illness.
Amy Garton-Hughes, 15, from Wallasey, has a rare genetic disorder which leaves her bent double, and losing her sight, hearing and teeth.
Thanks to generous local fundraising and a determined mother, Jayne, the youngster has made regular trips to America for treatment.
Now, just back from Boston, she has been told she could receive a drug expected to become available early next year and which could halt the progress of the debilitating Cockayne’s syndrome.
The drug is so new it is not yet licensed and has not even been named, but contains key chemicals which Amy’s family hope will slow the development of her illness.
Jayne Hughes said: “They have used it on mice and say it has been working to slow the ageing process. I don’t know the precise details but they told me it uses a sugar already found in the body and a protein which encourages the cells to repair themselves.
“Potentially this could prevent Amy going blind. I don’t think it can undo damage which has already been caused but it may slow down further damage.
“Amy will be the first child in the UK and possibly the world to begin the trial.”
She said during their latest trip to America they met others with the same rare illness, many in more advanced stages than Amy, and it had been “heart-breaking”.
She said: “There was another girl there, Caitlyn, who was 19 years old but less than two stone
Mrs Hughes has campaigned for better funding of treatment for children such as Amy and has used the Downing Street website petition to raise awareness of the illness.
She said doctors in the UK were unable to diagnose Amy’s condition.
Instead, the family raised the money to take her to the US where specialists at Boston children’s hospital diagnosed a rare type of Cockayne’s syndrome.
Since then the family have been working hard to raise awareness.
TO SIGN the petition, go to http://petitions.pm.gov.uk/butterflys/
liammurphy