NZORD

Rare is Everywhere

Meet some of the 377,000 people living with a rare disorder in New Zealand and share your own personal story

Media release: Family hopeful of receiving rare disease drug available all over the world
14 August 2018
Elizabeth Hunt’s family in New Zealand may finally get treatment for their rare genetic condition – treatment available to other family members who live in Australia, and around 30 other countries.
Folic acid fortification
13 August 2018
A new report, commissioned by the Ministry of Health, has concluded that the benefits of mandatory fortification of bread with folic acid outweigh any possible adverse effects.
Unified voice for carers
7 August 2018
NZORD’s Relationship Manager attended the Carers Alliance meeting on 26 July, an alliance of 45 national not-for-profit organisations.
Dr Louise Bicknell: researching gene "growth"
6 August 2018
I am a Rutherford Discovery Fellow in the Department of Pathology, Dunedin School of Medicine, University of Otago.
Meet the Kiwi DNA detective helping kids across the world
23 July 2018
NZORD board member Professor Stephen Robertson is a world-renowned paediatric geneticist.
Running for rare disorders
10 July 2018
A science student is running her first marathon to raise money for NZORD and the rare disorder community.
NZORD funding update
9 July 2018
We have signed a new three-year contract with the Ministry of Health, with reduced funding each year.
NZORD submission to Consumer Voice consultation
5 July 2018
The patient voice should be included from the start to ensure equity for all people requiring pharmaceutical treatment.

Support for patients and families

Resources for support groups

Rare disease facts and figures

Featured rare disease: Homocystinuria (HCU): A treatable metabolic disorder

The homocystinurias are a group of inherited rare metabolic disorders caused by the build-up of the amino acid homocysteine and its metabolites. When these accumulate and reach high levels they become toxic. The most common type is known as classical homocystinuria (HCU), which affects 1 in 200,000 people worldwide. This affects the eyes, skeleton, nervous system and vascular system, with varying severity depending on the genetic defect involved and management with diet and treatment. In New Zealand, HCU is included in the disorders screened at birth by newborn screening. Unfortunately this screening does not detect all cases of HCU and does miss patients. HCU is treatable, with a treatment plan tailored to the individual, involving special diets and supplements. Early diagnosis is vital and awareness within the health sector so that the testing is completed when patients present with the range of symptoms is extremely important.