400,000 Kiwis’ rare diseases an “inconvenient truth” for the Govt

More than 400,000 New Zealanders living with a rare disorder are being let down by an ineffective support system, according to a national advocacy organisation.

It means problems with diagnosis, treatment and medication, and general support, said Rare Disorders NZ chief executive Lisa Foster.

“God forbid you get a rare disorder [in New Zealand]. You will be at the bottom of the pile. A lot of people are leaving [New Zealand] if they find out they have one. I would too.”

One sufferer said it took 37 years to be diagnosed, while another was only taken seriously by doctors when she tried to take her own life.

At least 50% of the 400,000 rare disorder cases would be children and of these, 30% would die before they’re five according to data from an English research, said Foster.

“People with rare disorders fall between the gap because the New Zealand system isn’t acknowledging them as a community. The average person gets misdiagnosed three times, and waits five years for a diagnosis. With no framework, there's no strategy, plan, no forward thinking.”

It took Nichola Smith 37 years to be diagnosed with the rare disorder Musculocontractural Ehlers-Danlos syndrome (EDS). As a result of her condition, her spine is severely curved, she has digestive failure, club feet and hypermobility.

Smith says she is frustrated and feels let down by the government, and the hardest thing is people not believing she has the disease.

“They [doctors] think I have a factitious disorder and I’m making it all up. You have to fight for your care. I had to book a half an hour appointment with my GP to educate her on my type of EDS.”

“Living with a rare disease is very isolating in itself, especially when your doctors don’t even know about it. You get very sick of it very quickly. I don’t want to be my own advocate - I’m too sick, and I’m too tired.”

Clinical geneticist Stephen Robertson, who diagnoses some rare disorders, says it is not a negative reflection of the Ministry of Health, but rather how rare these conditions are.

“We need access to new tests so that quick and accurate diagnoses can be made by people who are skilled at making them. In present time, we are under resourced to be able to do that accurately.”

An individual with three different rare diseases, who wished to remain anonymous, is struggling.

“It’s such a battle. When I’m sick I can vomit up to 15-20 times a day. The hardest part is getting medical people to believe that I’m sick and that it is having an impact on my life. I’ve fought for four or five years to get access to treatment.

“I ended up trying to take my own life. It was only after that, that my doctors started taking me seriously on what a big impact it [my rare disorder] has had on my life.

“If you don’t fit into certain boxes, there isn’t treatment for you. I have friends who live on under 1000 calories a day, but because their weight is stable, they can’t get access to things like feeding supplements.”

Foster says New Zealand is falling behind the rest of the world and wants the Ministry of Health to find more effective solutions for those suffering.

“We are behind because we are ignoring it, we are in denial that there is a problem, and a community out there that needs support. There are solutions, they have been enacted in other countries successfully, so why are we not doing it?”

A recent report by US healthcare multinational IQVIA ranked New Zealand last in the OECD for access to medicine. It also found that New Zealand takes twice as long to publicly fund medicine compared to other OECD countries.