Today marks the start of the first Aotearoa Rare Disorders Month in recognition of people who have been largely ignored.
Unlike most OECD countries, New Zealand doesn’t have a national strategy for rare disorders and advocates say there’s an urgent need for action to improve the health and wellbeing of more than 300,000 New Zealanders who live with a rare disorder.
Misty Kimura is the mother of Khy-Noa, who has a rare chromosomal disorder called Mosaic Trisomy 9. Khy-Noa is the first New Zealander and one of 300 people worldwide with the disorder.
The disorder means the entire ninth chromosome appears three times (trisomy) rather than twice in some cells of the body.
She communicates via sign language and understands both English and te reo Māori.
Bringing more awareness to rare disorders in Aotearoa.
Kimura says it’s taken 10 years to get a diagnosis, explaining the challenges to teaomāori.news.
“It has been a journey. I think we had two misdiagnosis of cerebral palsy and Angelman Syndrome, two skin biopsies taken, one when she was two and I fought for another when she was nine years old. She was being put under general anaesthetic for her growing rods, so I pushed and said ‘are we able to get to get a skin biopsy?’”
That second biopsy, years later, confirmed it was Mosaic Trisomy 9.
“It also meant that we weren’t alone. Then we were able to connect with other whānau and their children around the world.”
Having lived most of their life in Australia, Khy-Noa and Misty returned to Aotearoa three years ago after Khy-Noa didn’t qualify for Australia’s National Disability Insurance due to being born a New Zealander.
“I thought ‘yay, we’re coming home, we’re going to have access to this funding’ because this is our country. It hasn’t been that.
“Having a rare disorder, there are so many complications to it. She has a disability because of her rare disorder and it’s really hard We live in Pāpāmoa and we’re having to see her orthopaedic surgeons up at Starship and her dentist in Whakatāne.
“Being Māori, we need to be more inclusive of our whānau when it comes to a rare disorder - without having our voice she can’t be heard because she’s non-verbal.”
While advocate group Rare Disorders NZ does its best to connect those with their specific support group, Khy-Noa’s condition meant there has been nothing set up. But a parent guide launched in Government House yesterday “is a great step,” says Kimura.
“Being Māori we do things differently and we want to make sure we are connecting with our whānau Māori to make sure they are being seen in this parent guide and that’s something that I’m working on with Rare Disorders NZ.”