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A helping hand for gene illness sufferer, 3; Coleens mother offers support to family of girl with rare disorder.

Byline: BY DAVID HIGGERSON Daily Post Staff

THE mother of Coleen McLoughlin has been helping a stricken girl who is only the 17th child in the world to be diagnosed with a rare genetic illness.

Little Mia Loudon, aged three, has been left permanently disabled from the rare disorder as a result of a faulty gene which has caused her to have up to 16,000 seizures.

The tot was diagnosed with having CDKL5 and holds devastating odds of being the 17th child in the world to suffer from the rare genetic condition.

And, in a further blow, doctors confirmed Mia has the most severe case of the disease that causes a child to have infantile spasms, fits, physical and mental problems.

Mia also has impaired vision, will never be able to walk or talk, is fed through a tube in her stomach, and needs 24-hour adult care for the rest of her life.

But, as the condition is a form of Rett syndrome, Mia's parents, Paula and Rob, have gained invaluable support from Coleen's mother Colette, whose daughter Rosie suffers from a similar condition.

Housewife Paula, 31, of Warrington, Cheshire, said: "I was devastated to find out Mia wasn't well as I had a normal pregnancy and everything appeared to be fine when she was born.

"But when she was two weeks old her arms suddenly shot out and her legs went very rigid.

"I didn't know at the time that she was having an infantile spasm and it was difficult to get my family doctor to accept there was anything wrong with her, as it's virtually unheard of for a baby to have a fit at two weeks old.

"The doctor thought it was colic rather than a seizure, but as I'd had a child before I knew they were mistaken. It was a difficult process getting her diagnosed as I even went for her six - week check and felt I was being rushed through the questions so that she ticked all the right boxes.

"I was asked whether Mia was smiling yet - as that always indicates whether a child is well enough - and as she is capable of a little half smile I hesitated.

"I said not really, but as I wasn't sure, they ticked the box anyway and that's how the evaluation went.

"It was a long process getting her diagnosed but when they eventually did, I was able to join a support group for other children with Rett syndrome and this has been an immense help.

"Coleen's mum is a member of the support club and she's lovely We go out for lunch together as a group."

In her short life, Mia has been admitted to hospital up to 20 times and has been treated in the high dependency unit and intensive care.

Before doctors accepted there was anything seriously wrong with Mia, she was suffering between six and 15 fits a day. But when she experienced one of her infantile spasms in hospital, it caused doctors in the Accident and Emergency department of Warrington Hospital to take action.

Initial tests on one-year-old Mia suggested she might have epilepsy, but when she was referred to two neurologists at Warrington Hospital they determined she was experiencing global delay.

The youngster was then transferred to Alder Hey Children's Hospital in Liverpool where geneticists diagnosed her with a rare form of Rett syndrome.

Paula said: "When we finally knew what was wrong with Mia, I cried with relief.

"The not knowing has put a terrible strain on our lives and Rob seemed to be coping with it by pretending everything was all right.

"But as I'm at home with Mia 24 hours a day I knew differently."

Despite Mia's condition, she is described as a happy child with smiling eyes who gets lots of attention from her five-year-old sister, Amy.

Mia has recently undergone a further operation to reduce the size of the opening to her stomach in an attempt to stop vomit getting in her lungs and causing chest infections.

Her fits have become less frequent and she is expected to have another operation on her stomach later in the year.

Paula said: "I'm so proud of my little girl, like other Rett's sufferers, she's beautiful.

"And although she can't communicate, I've been told she can recognise my voice, which is so heartening."


Little Mia Loudon is only the 17th child in the world with CDKL5, a rare genetic disorder. The three-year-old, who has suffered up to 16,000 seizures, is pictured, centre, with mother Paula and sister Amy
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Publication:Daily Post (Liverpool, England)
Date:Sep 5, 2006
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