HEALTHY LIVING: ‘Our unique Lily-May is writing her own rules’

Lily-May who has a rare genetic disorder.
Lily-May who has a rare genetic disorder.
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When mum-to-be Rebecca Earp was told during her pregnancy that doctors had discovered a possible abnormality in her unborn child, she was told to expect a diagnosis of Down’s Syndrome.

But after the birth - when medics found no sign of the condition - Rebecca realised her daughter Lily-May’s situation would never be as clear-cut as it first appeared.

Following tests, Lily-May was found to have a rare genetic disorder so specific that she is thought to be the world’s only recorded case of a child with the condition.

The disorder, caused by a missing part of Chromosome 5, has left the three-year-old unable to walk or talk.

However, the rarity of her condition means her life expectancy and future development are something of a mystery.

“She’s writing her own rule book,” said Rebecca, aged 33, from Maltby, Rotherham.

“Because there are no other cases, I’m not setting limitations for her.”

The charity Unique - also known as the Rare Chromosome Disorder Support Group - says there has been a ‘sharp increase’ in the rate of diagnosis of children with rare chromosome disorders, estimating that around 30 per cent of youngsters with significant development delay in the UK have such an illness.

The organisation puts the increase down to improvements in genetic testing, but says the disorders are not as well understood as conditions such as autism and cerebral palsy.

Rebecca, a learning disability nurse, also has a younger son Jackson with husband Stephen, 42, who works as a team leader at a residential care home.

She had previously suffered the heartbreak of a miscarriage before falling pregnant with Lily-May.

“We were all prepared for a Down’s Syndrome baby, but when she was born they said she didn’t have it,” said Rebecca. “We thought we’d worried for nothing.”

Samples tested at Sheffield Children’s Hospital revealed the little girl was missing part of Chromosome 5.

“We asked the geneticist what it meant, and he said he was really unsure, because there were no other documented cases in the world of her condition.

“There is no family history - it’s just something that happened to Lily.”

Rebecca said her daughter, who attends Maltby Hilltop special school, had ‘astounded everybody’ with her progress.

“She’s coming on in leaps and bounds with the support at school. The therapist said she would never eat orally and probably never talk, but at school she’s eating two dinners, and chocolate sponge and custard.

“We’ve put no limitations on her. We’re just letting her show what she can do. Jackson is fantastic with Lily and very patient with her.”

She continued: “Personally, I think it’s a good think that advances in medical technology mean more children are getting these diagnoses. It feels like clarification.”

Lily-May’s particular chromosome deletion has been added to the Decipher database, used by experts around the world to match different cases.

“Say a geneticist in Australia came across a child with a Chromosome 5 deletion, they can look on the database and it would come up with Lily-May,” said Rebecca.

“At first I was against it, I thought ‘My daughter’s not a guinea pig’. But now I’m so glad we put her on it.

“I was in that position when Lily was born. If it helps other parents it can only be a good thing.

“We’re all in the same situation - it’s all unknown. We’re learning every day and having a disabled child has a massive impact on any family, but it’s normal to us now.”

Scientific advances have led to increase

Advances in genetic testing mean many children, previously labelled with developmental delay, autism or learning difficulties, are now having a formal diagnosis of a rare chromosome disorder, the charity Unique says.

Some people are profoundly disabled, while others appear outwardly normal but have problems with infertility or recurrent miscarriages, learning impairments or behavioural issues.

Across Yorkshire, Unique has 307 member families, compared with 118 in 2007.

Membership is free, and services include a helpline, the opportunity to meet other families and special guides written by experts. The charity has just held its first awareness week, with fundraising events held such as cake sales and fun days.

Chair of trustees Sophie Sainty - who has a 12-year-old son, Max, with a rare disorder - said: “The shock of having a child diagnosed with any disability or disease is devastating. But having a child with a rare chromosome disorder, often with no name to it, makes it even more difficult.

“Doctors don’t know how the children will be affected, and families, neighbours and the public don’t understand it. We are left feeling very isolated. “We hope the awareness week will help spread the word and reach new families who need support.”

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