A new strategy may help people with rare disorders. (File photo) Photo: 123rf
A patient advocate hopes that the launch of New Zealand's first Rare Disorders Strategy can lead to clearer treatment pathways and more funding for rare patients in the future.
The strategy was released today by the Ministry of Health, two years after a recommendation from a Pharmac review and a directive from former health minister Andrew Little.
Rare disorders affect 300,000 people in New Zealand.
A recent survey by Rare Disorders NZ showed that one in five rare patients reported waiting over ten years for a diagnosis, and over half reported feeling that communication between different service providers was poor and that professionals were poorly prepared to support them.
A plan for rare disorders 20 years in the making
Jamie Christmas, whose husband died last year after a long struggle with amyloidosis, told RNZ's Afternoons that her family often felt they were left to "fumble in the dark" after her husband's diagnosis in 2013.
"We were really left to fend for ourselves, because basically nobody knew what to do with us."
Christmas said it took two years for her husband to get diagnosed, by which point much damage was already done - diminishing the effect of further treatment.
"Because of the lack of awareness, a lot of the physicians didn't really know what to do, so finally when the liver transplantation did happen, it didn't really help."
Christmas said the strategy is a good start to have the voices of rare disease patients heard.
"With this strategy at least we can get recognised, at least there is a voice for us, at least for once perhaps, society in New Zealand will kind of like pay attention to the fact that there's a huge population of people that have been overlooked."
Christmas said she hopes it could lead to clearer pathways for treatment and more funding towards this sector of the population.
Rare Disorders NZ, who have been working with the government to develop the strategy, said this is a significant moment for groups who've been calling for this for decades.
"It marks the first time we have high level documented intention to improve the health and wellbeing of this vulnerable population group," said board chairperson James McGoram.
Rare Disorders NZ's chief executive Chris Higgins said the strategy is a good foundation to start improving service delivery for people living with a rare disorder.
He said it is not perfect and that there are some significant omissions that still need to be addressed.