As an election year gets underway, pressure is mounting on political parties to explain how they will act on rare disorders care.
Rare Disease Day tomorrow marks the start of Rare Disorders Month and 583 days since the Government agreed to New Zealand’s first Rare Disorders Strategy. While a recent hui between Health Minister Simeon Brown, implementation agencies and stakeholders has been welcomed as a positive step by Rare Disorders NZ (RDNZ), formal implementation has yet to begin.
RDNZ says the delay of nearly two years continues to affect an estimated 300,000 New Zealanders living with a rare disorder, many of which start in childhood and are lifelong.
RDNZ Chief Executive, Chris Higgins, says the organisation has written to all political parties seeking clear commitments for how they would act on priorities important to the rare disorder community. These include early and accurate diagnosis, planned clinical care pathways, access to medicines, disability and social supports, workforce development, research and national data collection.
“Implementing the Rare Disorders Strategy is an important first step to progress improvements on many of these issues. Election year presents an opportunity for all parties to show how they would turn the Strategy into action for New Zealanders living with rare disorders and their families,” Higgins says.
For families, the consequences of delay in diagnosis could be life changing.
Sophia Ama was three days old when her mother Brooke Ama noticed her becoming grey, floppy and refusing to feed.
“She was quivering and I knew something was seriously wrong,” Brooke says.
Sophia was urgently transferred to Starship’s paediatric intensive care unit, where she was placed on life support and dialysis before being diagnosed with a rare metabolic genetic condition, Propionic Acidemia. Doctors told her parents that if treatment did not start that night, there was only a five percent chance she would survive.
“Early diagnosis gave Sophia a chance. Without it, she wouldn’t be here,” Brooke says.
Chris Higgins says, unlike Sophia, over half of New Zealanders with rare disorders wait more than a year for diagnosis.
“Each year during Rare Disorders Month in March we have seen the wider community show up for Rare, supporting one another. The question now is whether the current and successive governments will do the same and implement the changes that would improve diagnosis and other outcomes,” Higgins says.
Tomorrow night, 49 landmarks across the country will light up for Rare as the community gets ready for a month of activity to raise awareness.
Rare Disorders NZ is a charitable organisation that is currently the only source of support, data and advocacy for the 300,000 New Zealanders living with a rare condition.
