'Ballet' girl Emily baffles doctors

Emily Bate's condition has left doctors baffled ever since she was a baby and her concerned parents were told she would never walk as she struggled to crawl or even sit up.

She did, however, manage to walk, though largely on her tiptoes, but has since suffered problems with her speech while regularly falling and getting tired easily, leaving her family no nearer to finding out what is wrong.

Since she was one year old, Emily, who is now nine, has undergone a wide range of tests, doctors giving her lumbar punctures, blood tests and both MRI and CT scans, as well as putting casts on both her knees. But they are no closer to finding the answer.

As the clues may lie in her genes, the family had hoped to have her DNA analysed to see if there were any anomalies that could explain her condition.

But parents, Lian, 34, and Des, 38, from Castleford, have received a letter from the Yorkshire Regional Genetic Service saying they may have to wait a further 10 years for her to have the array CGH testing, which is not currently available on the NHS.

It said the service hoped to offer the test, which would analyse her chromosomes, by the end of the year but then it might be a "few years" before Emily made it to the top of the waiting list for an appointment and she could even have to wait until she was 20 before having the examination carried out.

It added: "Genetic testing does improve with time and it would be worth asking one of her doctors to refer her back to the genetics service approximately 10 years if no diagnosis has been made. We would clearly be happy to review her sooner than this if it seemed appropriate."

Mrs Bate said: "Emily's had so many tests she's been like a human pin cushion, and she's been seen by doctors in Leeds, Sheffield and London's Great Ormond Street.

"But we've not had any progress in the last eight years and this test, which studies Emily's chromosomes, could find out what condition she has."

She added: "When we received the letter it seemed to be saying to me that if we come back when she is 20 they may be able to find out what's wrong with her.

"I will never forgive myself if we finally get the test done in 10 years and they say we could treat it because she could have had so much treatment by then."

Emily was slow to develop as a baby and her parents were warned she might need to use a walking frame but she proved the experts wrong by finding her feet. It wasn't long, however, before she started perching herself on her toes like a ballerina.

Emily attends school and her parents say she does better when she has a helper but her school does not currently believe she needs full-time assistance.

A spokesman from Leeds Teaching Hospital said: "We are sorry to hear the letter has upset Emily's family, and we would urge them to contact us so we can more clearly explain the current position.

"In genetics it is useful to see a patient again when they reach an age where they may be starting to think about having their own children, to discuss the implications of this."