The Listener article: Seeking action
An article in this week's The Listener magazine highlights the challenges faced by those living with a rare disorder and the need for a National Rare Disorder Framework to address those challenges.
The article states:
Lisa Foster is the Chief Executive of Rare Disorders NZ, an umbrella group that works to connect people, raise awareness and campaign for equitable healthcare. She says even getting a diagnosis can be fraught, as doctors may not have encountered a particular disorder before.
"On average, you'll go through three misdiagnoses and it'll take four years to get an accurate one," says Foster. "Other countries have faced the same issue and they've reduced the diagnostic oddtset by bringing in genomics. So if you're in a situation where your doctor doesn't know what's wrong, they'll do whole genome sequencing, then, hopefully, get a faster diagnosis."
About half of those who suffer from rare disorders are children, and there are few targeted treatments available. A 2019 survey by Rare Disorders NZ showed that for most people, the only option is drugs to manage the paing and inflammation. Knowing where to go for medical and social support isn't straightforward either.
Says Foster, "If you have a child with Down syndrome or autism, you have a clear path of care and specialists who know what they're doing and have done it before. But with something rare or more complex, a person can fall through the gaps."