Little Ellie really is one in a million...

Jul 3 2007 by Chris Robinson, The Journal

ELLIE Luther was born with a condition so rare doctors had difficulty diagnosing it when she was born.

The seven-year-old suffers from Harlequin ichthyosis which affects just seven children across the UK.

It means she grows as much skin overnight as a healthy person would in a week.

The South Shields youngster endures hours of discomfort every day to scrub away excess layers of skin and is covered in a greasy cream and bandages to protect her from infection.

But doctors have now discovered that Ellie is lacking vital vitamin D. She is also underweight for a girl her age.

Throughout the past month the youngster has also suffered painful problems with skin on the soles of her feet cracking.

Father Will, 30, from The High Road, Harton, said his daughter’s condition means her body works overtime.

“Ellie can’t spend a lot of time in direct sunlight because of her skin and she has to wear bandages.

“It is affecting her Vitamin D levels which are a little bit lower than they should be.

“Because her skin grows twice as quick then her body is working overtime to protect itself so that’s why she’s underweight.”

The one-in-a-million condition, which has no cure, still baffles doctors across the world. The oldest survivor is in her late teens and lives in the South of England.

Although the condition is hereditary the Luther’s three other children, Bethany, nine, Riley, three and one-year-old Hope do not suffer from it.

“When she was born it was difficult because no-one knew about the condition,” added Mr Luther.

“We thought, ‘Had we done something?’ But the doctors explained it was genetic.

“As soon as she was born we had to start creaming her and cutting away at her skin, I just couldn’t bring myself to do it because she was so small and fragile.”

Ellie still goes for check-ups at Newcastle’s Royal Victoria Infirmary every six months.

Her condition also means she was born with no eye-lids or ears.

Her eye-sight has also deteriorated over the past year and she now has to wear glasses.

However teachers at Bamburgh School, South Shields, which caters for children with special needs, have praised the youngster’s enthusiasm and she received top marks in her recent Maths SATS assessment.

As she grows older her parents are noticing their daughter look at herself more in the mirror.

Mother Melanie, 31, added: “She is starting to notice more how she looks, but the school is great and they have a no bullying policy.”

The family said it was often the public’s ignorance which made the situation even more unbearable.

But Ellie’s confidence has allowed them not to shy away from going out with her.

Mr Luther added: “We once heard someone say, ‘That’s why mummy doesn’t let you play in the kitchen,’ which was very upsetting.

“But Ellie is strong, one boy was looking at her and she said to him ‘I was born like this, what’s your excuse?”

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Many do not survive

MANY babies born with Harlequin ichthyosis do not survive beyond the womb.

Harlequin ichthyosis is the most severe form of condition congenial ichthyosis. Because the skin can crack it leaves the body prone to infection, which can prove fatal.

The skin forms large diamond-shaped plates separated by deep cracks. Skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and restrict movement of the arms and legs. The condition is likely to be inherited in an autosomal recessive pattern, which means two copies of a gene called ABCA12 in each cell are altered. For a child to inherit the condition, both parents must have the double gene.