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Life a daily battle with rare disease

DENISE PIPER
Last updated 05:00 19/02/2013
Amber
RARE GEM: Amber Jelsma is much rarer than a butterfly – she is believed to be the only child in Australasia with Niemann-Pick Disease type A.

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Whangarei Leader

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Laura Lopes and Dylan Jelsma say they are just an average Kiwi couple.

But the Tikipunga residents face daily battles unlike most families because their 19-month-old daughter Amber has the fatal genetic disorder Niemann-Pick Disease.

Amber has the rarest and most severe form of the condition, type A. Patients typically live for just two to four years and she is believed to be the only child in Australasia with it.

Niemann-Pick is one of 50 lysosomal storage diseases that eventually causes cell death and the malfunction of major organs.

Amber can sit but can't crawl, walk, talk or eat solids, and now has a nasal gastric tube to supplement her feeding.

Laura says Amber is one of many ‘rare gems' who will be supported on February 28 for Rare Disease Day.

The day is being hosted by the New Zealand Organisation of Rare Diseases as part of a worldwide awareness campaign.

The aim is to boost public awareness about the impact of rare diseases, raise funds for support groups that often go unnoticed and promote more research.

There are more than 7000 different known rare diseases affecting 8 per cent of the population. Half of those affected are children and 30 per cent may not live to see their fifth birthdays.

But Laura says it is difficult to get medical professionals involved in researching rare conditions due to the lack of funding.

"Research scholarships for rare diseases get their finances from the affected families, many of whom dedicate their lives to fundraising.

"We travelled to Nashville last year for the Niemann-Pick Conference and personally met a number of families who continue to fundraise and campaign for a cure, years after losing their child."

Laura has been trying to raise awareness of the day with a stand at Whangarei Central Library.

But she hopes other people will take on the challenge by holding simple fundraisers like a work mufti-day.

Laura admits it has been hard trying to organise anything in between Amber's medical appointments.

She sees a pediatrician, outreach nurse, occupational therapist, speech and language therapist, dietitian, and ear, nose and throat specialist.

Laura would also like to highlight more ‘rare gems' on the day and hopes to organise a coffee group for mothers whose children have health problems.

Contact Laura at lovely laura102@hotmail.com to donate or go to raredis easeday.org.nz.

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- Whangarei Leader

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