Archive - Wednesday, 29 January 2003


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'Help us raise funds to find a cure for Sophie'

LITTLE Sophie Casper-Gilbank, from Rillington, is being treated for one of the most rare complaints known to the medical profession in Britain - nail-patella syndrome.

Now the seven-year-old's mum, Jacquie, is running a St Valentine's disco and supper to raise funds for research into the illness. It will take place at the Ryedale Indoor Bowls Centre at Norton on February 15.

Explained Jacquie: "Most cases of the syndrome have absent finger nails, especially thumb nails, and the knee cap is either not there or very small."

In addition, say medical experts, dislocation of the knee joint can occur and a sufferer's elbows may also be affected. Blood and protein levels have to be constantly monitored and in severe cases dialysis or a kidney transplant may be needed, but not usually in children.

It was last June that Jacquie and her husband Steven, of Woodlands Road, Rillington, discovered something was amiss when they took Sophie to the family doctor after finding a small lump on her knee. It was found she had virtually no knee cap.

She was later seen by a paediatrician who diagnosed the syndrome and since then Sophie has been having treatment at the famous St James's Hospital, in Leeds.

"It was a big thing to come to terms with but we have now done so and everyone has been marvellous - the doctors and nurses at Jimmy's have been wonderful," said Jacquie.

Apart from being restricted in playing energetic sports because of the risk of a knee dislocation, happy-go-lucky Sophie leads a normal life and shines at the local village school. "She always smiling - she's a smashing little girl," said Steven.

Research has shown that the syndrome is a new mutation and not hereditary, said Jacquie, who has only traced two other cases, at Hull and Glasgow.

Now, she is working with two friends, Christine Atkinson and Carol Butler, to raise money to help find a cure for the complaint and their first event will be the St Valentine's Day disco where there will also be a champagne draw and a supper.

Tickets for the event are on sale at £8 from Rillington Post Office, The Cutting Room hair salon and Calladene's Hair Studio, in Norton, or from Jacquie on (01944) 758486 or (01653) 693201.

Information about nail-patella syndrome can be obtained from NPS-HUK, PO Box 2645, East Kilbridge, Glasgow G74 1YW.

Updated: 10:14 Wednesday, January 29, 2003