‘It can take 10 years to get a diagnosis’ – Kiwis with rare diseases not reflected in statistics

A charity says it is likely there are more people with rare disorders than official numbers show, and New Zealand is falling behind on access to medicines for them.

Rare Disorders New Zealand chief executive Michelle Arrowsmith said while each type of illness was uncommon, collectively they affected 300,000 – or one in 17 – New Zealanders.

“There’s around 6000-7000 clinically defined rare disorders and there are many more rare disorders that yet don’t have a name or haven’t been fully clinically diagnosed,” she said.

“So we think actually that there’s probably over 10,000 rare disorders.”

The government had agreed on implementing a much-needed national strategy around rare disorders by the end of the year, Arrowsmith said, but in the meantime patients were struggling to get diagnoses and access to medication.

“Getting a diagnosis in the first place is really difficult, sometimes it can take up to 10 years to get a diagnosis,” she said.

“Often there isn’t a medicine for a rare disorder, but where there is we really fall behind many other countries across the world in terms of our medicines access. So the first thing is really to get this strategy, it’s the foundation document to be able to drive forward.”

Meanwhile, other countries were on their second or third iteration of a rare disorders national strategy, Arrowsmith said.

In some cases there were only one or two New Zealanders with a certain disease, so often they felt very isolated.

“When people do get a diagnosis they then need some support, you know, is there anybody else out there in the world that has the same diagnosis and the same issues that they’re facing?” she said.

“We have about 150 support groups across New Zealand for specific different rare disorders … and also sometimes we’re able to connect people internationally because sometimes the only support group is overseas.”

This month marks the first national Rare Disorders Month in New Zealand.