Opinion: Olympic Rowers Louise and John Storey Open Up About Rare Disease That Changed Their Lives
The recent announcement by Olympic rowers Louise and John Storey that their daughter Ava has 1p36 deletion syndrome showcases the harsh reality of living with a rare disease. The couple has opened up about their struggles since discovering their daughter’s genetic disorder, which affects one in every 5000 to 10,000 births.
As March marks the first Aotearoa Rare Disorders Month, it brings attention to the more than 300,000 New Zealanders living with one of over 6000 rare disorders. It is disturbing to learn that unlike most OECD countries, including Australia, New Zealand doesn’t have a national strategy for rare disorders.
The absence of a national strategy has resulted in difficulties for people with rare disorders to seek accurate diagnosis and treatment. Surveys by Rare Disorders New Zealand (RDNZ) revealed that more than 50% of people with rare disorders took more than one year to receive a diagnosis, while one in five had to wait for more than a decade. The lack of a coordinated approach to rare disorders, coupled with the shortage of specialists, contributes significantly to this delay.
Opportunities during the awareness month will be provided for communities throughout Aotearoa to gain a better understanding of the challenges people with rare diseases face. It is hoped that raising awareness of these issues will lead to the development of a national strategy to improve diagnosis and treatment options, and increase support networks for people living with rare disorders and their families in New Zealand.
1. According to the RDNZ report, around 50% of rare disorders develop during childhood, with many beginning at birth or during early childhood.
2. Approximately 80% of rare diseases are caused by genetic abnormalities.
3. There are over 3000 doctors and 600 nurses in New Zealand specializing in rare disease treatment.
It is crucial to develop a national strategy to identify and support people living with rare diseases in New Zealand. The development of a coordinated approach will help reduce diagnostic delays, increase treatment options, and provide support networks for affected individuals and their families.
The news from the Storey family highlights the urgent need for the development of a national strategy and support network for people living with rare diseases in New Zealand. The awareness raised during the Aotearoa Rare Disorders Month is an excellent starting point to improve the quality of life for those living with these disorders. It’s time for the government to understand the impact of rare diseases on affected individuals and their families and take decisive action for their support.