Rare disorder makes Georgia completely dependent on others

Georgia Uphill is four years old but has the mental age of an 18-month-old.

She does not speak and needs help to walk. She hyperventilates and easily becomes anxious.

Georgia, who lives in St Thomas, Exeter, with her mum Katie, dad Ben and seven-year-old brother William, has Rett Syndrome. She was diagnosed with the rare genetic neuro developmental disorder, which affects one in 10,000 girls, at the age of three.

When Georgia was a baby, Katie, 29, noticed one of her eyes was flickering, and the little girl was referred to a paediatrician. It was feared she may be having epileptic seizures, but an electroencephalogram (EEG) did not show any sign of epilepsy.

But Katie was still concerned. Georgia’s growth was slow, she was not feeding properly and couldn’t crawl until she was 12 months old. She didn’t sleep well and often woke up screaming.

The paediatrician sent Georgia to Honeylands, a specialist children’s centre in Exeter, where staff were concerned that Georgia could not walk or even stand without support, but were encouraged by the fact she could speak a few words. However, by the time she was 18 months old, Georgia had regressed, losing skills like waving and clapping, speaking and feeding herself.

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Georgia was referred to a geneticist, who tested her for Rett Syndrome. The test came back positive and she was diagnosed just before Christmas 2007.

Although she had looked up Rett Syndrome on the internet and realised Georgia had the symptoms, Katie was still stunned by the diagnosis.

“It was a massive shock,” she said. “I think nothing prepares you for it.”

Georgia has tight Achilles tendons, meaning she is on tiptoes when she stands up, so wears splints on her feet and upper legs to help keep her heels down. She also has kyphosis — curvature of the spine — and feeding problems.

To give her parents some respite, Georgia attends Ellen Tinkham School and, once a week, is looked after by her grandmother or aunt. At home, Georgia is completely dependent on her parents, who wash her, bathe her, lift her in and out of her wheelchair and have to be with her all the time.

Because she has no sense of danger, Georgia has a bed she cannot get out of as, if she had a normal bed, she would roll off. During the night, she often breathes irregularly, hyperventilates, cries and screams.

Katie said: “The hyperventilating is the worst thing. You can’t get her out of it and it can go on for a couple of hours.”

Georgia has music therapy, physiotherapy and hydrotherapy at school. The Rett Syndrome clinic at London’s Great Ormond Street Hospital has also given her medication for the hyperventilating. Although Katie has spoken to parents whose daughters have been helped by the medication, it has not made a big difference to Georgia, and staff at the clinic are considering trying other treatment.

Last year, locals at the Barley Mow pub in St Thomas raised £1,700 for Georgia with a fundraising pub crawl, karaoke and disco. The money will go towards private treatment at the Brainwave therapy centre, which helps children with cerebral palsy.

“I think we have got to give it a shot,” said Katie, who is now the local support group organiser for the Rett Syndrome Association. “I have heard a lot of good things about it. I think Georgia needs a chance.”

Copyright 2009 This Is Exeter.