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

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.
Wellington Health Tech Network
5 July 2018
NZORD attended this event in June which offered an inspiring line-up of speakers with broad expertise in researching and then commercialising ground-breaking approaches to health technology.
Expectations for PHARMAC from Minister of Health
4 July 2018
A letter outlining the Minister of Health’s expectations for PHARMAC includes a focus on rare disorders medicines.
Setting up a support group
3 July 2018
Do you want to set up a rare disorder support group but are not sure where to start? NZORD can help.
PHARMAC call for applications for rare disorder medicines
2 July 2018
NZORD is pleased to report that PHARMAC is inviting pharmaceutical suppliers to submit funding applications for medicines for rare disorders.
Newsletter 2018 #3
27 June 2018
Rare is Everywhere: Meet Jessica | Greetings from the NZORD Chief Executive | Latest updates from our website | What have we been up to? | PHARMAC community consultation – have your say | Rare is Everywhere: Stories Project | NZORD sponsors prizes for best student presentations

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.