A national survey is hoping to change the way rare disorders are dealt with in Aotearoa.
Advocates estimate around 300,000 Kiwis are living with a rare disorder or condition, and although health officials want to help, data is scarce across the country.
Heather Kalisch is a mother of a 2-year-old with a rare disorder named "prune belly syndrome". It gets its name as weak or missing abdominal wall muscles make an infant's belly look wrinkled. Those with the rare disorder can have kidney or urinary tract problems.
Kalisch told Breakfast there is a lack of information on treatments in New Zealand, and said she has had to look overseas to get additional support for her son's condition.
On top of that, Kalisch said a surgery would be self-funded and can be "at least $100,000".
Although Rare Disorders NZ has been working on this issue, chairman James McGoram said there is a "great deal more" that can be done to help officials with the problem.
"We've been working just recently on co-designing New Zealand's first rare disorder strategy with the Ministry of Health.
"This is crucial work. We often hear in media stories of people who can't get medicine that’s not funded in New Zealand, but that's one aspect of quite a complex issue.
"There isn't enough support around families with a rare disorder, it is often really difficult to connect to specialists or to expertise, and often just getting a diagnosis is next to impossible, and people will be waiting many years to even get that simple step of what's happened to them."
To make this process smoother, McGoram said they plan on linking doctors and specialists to a "centre of expertise" which will connect doctors to a resource they can use to find support around or identify a rare disorder.
McGoram is headed to the Ministry of Health today to share the "bottom lines" on helping health professionals deal with treating rare disorders.
"We've brought this proposal forward, we've worked on this strategy over the last couple of years, but we really now need to see some of those results, we need to see some of those bottom lines come through."
McGoram added he would like to see the incoming government continue to support the strategy work.
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