Family fundraising for rare syndrome
Happiness part of having Angelman syndromeKELSEY FLETCHER
Ashhurst boy Joel Cherrie-Hope is always full of smiles and giggles - being gloriously happy is part of having the rare Angelman syndrome.
The 4-year-old is described by his mother Kathryn as "the cheekiest kid I've ever met" and is known in the community as the Ashhurst Angel.
Mrs Cherrie-Hope said less than 10 children in the Manawatu region were diagnosed with the complex genetic disorder, which primarily affects the nervous system, and awareness was low.
"When Joel was diagnosed, the paediatrician said, ‘I know nothing about this, I'm learning with you'," she said. "Being a teacher, I picked up on something, that he wasn't hitting the milestones and took him to the GP at 10 months.
"At 18 months they were checking him for cerebral palsy, which is one of the things they commonly misdiagnose it with, along with autism.
"The doctor at the time asked me to do some more tests and found it wasn't cerebral palsy but it was Angelman syndrome."
Mrs Cherrie-Hope said the diagnosis came as a relief after struggling for months to figure out why her son wouldn't talk or sit up normally.
"The way we see it, all kids have something going on," she said. "We explained to our 8-year-old daughter that she had diva syndrome and to our 11-year-old son that he had monkey man syndrome, and it was just that Joel had Angelman syndrome."
The family are part of New Zealand's Angelman Network, which brings children like Joel together with others and provides information to parents.
"There is no specialist in New Zealand, it's so rare and there is no funding or financial support so there is the Angelman Network to connect us," Mrs Cherrie-Hope said.
She said she was overwhelmed by the community support earlier this year, after $3000 was raised to help get them to a conference in Australia. "It was that generosity that has got us to do a 15-kilometre walk-a-thon to raise money back into a kitty for other angel families in New Zealand," she said.
"We want to raise $5000 on November 30 to help other families get to Australia, or otherwise the network is also trying to bring a specialist to New Zealand." The 15km walk-a-thon will be held from 9am, November 30 at the Ashhurst Domain car park.
Visit givealittle.co.nz/cause/teamjoelwalkathon for more information.
- © Fairfax NZ News
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