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Home / Rotorua Daily Post

Celebration highlights girl's rare disorder

Katie Holland
By Katie Holland
Deputy editor·Rotorua Daily Post·
18 Feb, 2013 10:30 PM2 mins to read

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Like most children Jhyoti Helmbright loves to laugh, but a rare disorder means her smile is permanent.

Jhyoti, 4, is believed to be the only person in Rotorua with neuro-genetic disorder Angelman syndrome, formerly known as "happy puppet syndrome" due to sufferers' permanently happy demeanour.

Her early childhood centre, Te Puna Akoranga o Ngati Whakaue, celebrated International Angelman Day last Friday by dressing up in yellow - the colour of smiles and sunshine - along with yellow cupcakes, balloons and face painting. Jhyoti's mum, Courtney Helmbright, said the day was about raising awareness of the disorder.

"We wanted to acknowledge Angelman syndrome, to say we have got her and she has got it ... she's in the community," she said.

The syndrome affects 1 in 20,000 people and is often misdiagnosed as autism - Jhyoti was not correctly diagnosed until just before her 4th birthday.

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Miss Helmbright said Jhyoti was affectionate, obsessed with water (a common characteristic of the syndrome) and understood English and te reo Maori.

However, her development is severely delayed - she has the mental age of a 2-year-old and the logic of a 9-month-old.

She can't speak and it's unlikely she ever will. She learned to walk just five months ago but her out-turned feet make balancing difficult.

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Like most people with the syndrome she suffers from epilepsy, in her case it's severe.

Yet to the other kids at Te Puna Akoranga o Ngati Whakaue, she's just "baby Jhy" and without having to be told, they know she needs a bit more care.

Teacher Purukamu Wallace admits working with Jhyoti can be hard work, but it's worth it.

"I see the rewards, she's learned lots," she said.

"It's about inclusion, she's one of them [the kids]."

Miss Helmbright said since starting at the centre 18 months ago, Jhyoti had made progress despite having funding to attend only four mornings a week.

"It's changed her ... just being around the other children," she said.

"I don't know what she would be like if she hadn't come here."

The single mum, who has put her own plans to study nursing on hold, is optimistic about Jhyoti's future despite the challenges ahead.

"We take it day by day. Hopefully she will live a simple but really happy life."

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For more information about Angelman Syndrome, see the website www.angelmannetwork.wordpress.com.

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