Creating memories that will be cruelly snatched away is what Dylan Jelsma grapples with every day when he plays with his daughter Amber.

Amber, 16 months, is a lovely girl who loves to giggle and has a beautiful smile, he says.

But she has been diagnosed with a rare, fatal genetic disorder Niemann-Pick Disease.

Amber has the rarest and most severe form of the disease, type A, where patients typically live for just two to four years.

"It's very much a case of seeing your hopes and dreams disappearing in front of you. She's a delightful child and it's so important that we grab everything we can while we've got it," Dylan says.

Niemann-Pick type A is a metabolic disorder which eventually causes cell death and the malfunction of major organ systems.

Dylan says Amber's brain development has been affected, stopping when she was 6 or 7 months old. She can sit but can't crawl, walk, talk or eat solids. Amber is fed specialised formula and homemade pureed food.

Her mother Laura Lopes has to constantly get up to feed her during the night.

As Amber is believed to be the only child in Australasia with Niemann-Pick Disease type A, the family has gone abroad for information and support.

Dylan says thanks to the help of family and friends he, Laura and Amber went to the recent Niemann-Pick Disease Foundation conference in Nashville, United States. The medical and family support conference gave them some good advice, like getting a feeding tube into Amber as soon as possible.

They also met Chip and Deanna Bourgeault, whose daughter Kaitlyn died of the same disease in March.

"Deanna and Chip were a godsend for us. They were able to tell us what worked and what didn't."

The family is better equipped to care for Amber but Laura needs to give up work, Dylan says. Community support is needed so the couple don't lose the home.

GARAGE SALE

To help support the family, Amber's early childhood educator Educare North is holding a monster garage sale this Saturday.

Dylan says Educare North has let her come along to the Norfolk St centre for free since her diagnosis.

The garage sale is at the Anglican Hall on the corner of Kamo Rd and Deveron St, Regent, from 7am to noon.

The event includes a barbecue, coffee, cakes, raffles and a "mountain of stuff" for sale.

There will also be live music and face painting.

All proceeds will go to Amber's care.

Donations can also be made to Amber's BNZ account 02-0494-0109232-00.

- © Fairfax NZ News

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