Doncaster mum's fight for awareness of rare genetic skin condition

A young mum is calling for better awareness of rare diseases after waiting six years for her daughter to be diagnosed with an incurable skin condition.

By The Newsroom
Thursday, 13th October 2016, 2:40 pm
Updated Tuesday, 25th October 2016, 7:22 pm
Kory Leigh and Luke King, aged 25, of Sprotborough, with ther daughters, Tarley, 6 and Pearl, 3. Tarly has Netherton Syndrome, which affects her skin.

Kory Leigh and her fiancé Luke King, both aged 25, of Sprotborough first noticed that something was not quite right with their first child Tarly when she was just four days old.

Kory said: “She was born four weeks early, but everything had been fine. We’d actually been discharged from hospital, but then the skin on her foot blistered and came off so we took her back.

“Doctors said she had eczema. It does look like eczema, that’s what we thought she had until three-years-old. Then she had a skin biopsy and that came back negative for eczema.”

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Over the weeks and years that followed, Tarly saw 12 dermatologists, who told her parents she had ichthyosis, a condition which affects the rate at which the skin regenerates and causes a build-up of rough, scaly skin.

However, there are around twenty different types of ichthyosis and doctors were unsure of which one Tarly had, so the results of the biopsy were sent to specialists in London.

Finally, four weeks ago, Kory and Luke were given an official diagnosis and told that Tarly, now six, has Netherton Syndrome.

Kory said: “It means she doesn’t have the protein of the spink five gene, her skin gets very dry and itches a lot and she also can’t sweat properly and regulate her own body temperature.

“It was such a relief after all these years though to have a diagnosis. We know it is genetic, but we don’t know what’s caused it. Luke and I are still waiting on blood tests to find out if one of us carries the gene or if it’s a gene she has created herself.”

Little is known about the rare condition, but it affects most of Tarly’s body.

“Her face isn’t really affected, but it looks like she has a red pattern on the rest of her body.

“We apply cream to her skin six times a day to try and stop it from drying out, if she gets too hot she will sit in front of a fan.

“It’s quite hard when even the doctors don’t know a great deal, but we want Tarly to have a normal life. We treat her the same as her little sister, three-year-old Pearl, who does not have the condition. She goes to school and she does PE.

“She’s really good and she knows when she’s getting too hot and if she is she just sits out for a while. She does itch, it’s hard when you can see her itching all the time - even when she’s playing - but she does try and just rub it because otherwise her skin also becomes sore.”

She added that Tarly, who has to see specialist doctors in London around once every three months, is a very happy, bubbly confident youngster, but sometimes she can become upset.

“About three months ago she had a breakdown and started asking why she is the one who has this and not me or her sister or her dad.

“So, I had a tattoo on my leg to look like her skin. It was the only thing I could think of to make her feel better. She tells people that I have the condition too, even though she knows it not real. She loves it.”

Kory is now campaigning for more doctors to be made aware of rare conditions like these.

“I’ve taken her to A&E in Doncaster before when it got really bad and they tried to tell me she has having an allergic reaction. They’d never heard of Netherton Syndrome. We don’t want to move to London and we shouldn’t have to, all doctors should be aware of this.”

“We are hoping one day there will be a cure because they know what protein is missing, but until then we’ll make life as normal and as comfortable as we can for Tarly.”