4 Mar 2024

Rare disorders aren't unusual enough to ignore

From The Detail, 5:00 am on 4 March 2024

March is Rare Disorder Month, where attention's drawn to the 300,000 New Zealanders who are uncommon, but who have a lot in common.

Ursula Christel

For Ursula Christel, her son's diagnosis was a relief. Photo: Davina Zimmer

When Ursula Christel's son was diagnosed with Angelman syndrome, she felt relieved. 

"I now had something in my toolbox that I knew how I could handle. I just had to research it, everything was step by step." she says.

Angelman syndrome affects about one in every 15,000 babies but the condition is a spectrum, and all 500,000 people globally who have it are affected differently. 

"Not every person with Angelman syndrome might have severe seizures, or there might be some with very severe seizures, and then they live in the neurology department, whereas my son had a little bit of everything. 

"I was flitting between all sorts of specialists." Christel explains.

Ursula with her sons William (left), Peter (right), and Andrew (front)

Ursula with her sons William (left), Peter (right), and Andrew (front) Photo: Ursula Christel

With such an uncommon condition, it isn't really surprising that the internet is the main first choice of source for information about treatment, care and support. 

Christel says social media has been a great way to connect with other families who have Angelman children, and share research and experiences. 

Together they've become a community of experts, finding new information, and feeding it back to doctors here in Aotearoa. 
"There are different ways you get Angelman syndrome, it's quite complex, the genetics. So I booked an appointment with the geneticist, and I took along all the information that I had, and afterwards we sat together, he listened to me a little bit and then he went online, and he started googling my website! 

"And that's when I thought, okay you better know that that's my website... I actually know everything that's in there already, I came here because I wanted you to tell me something." she laughs.

Her son Andrew is one of about 300,000 New Zealanders living with at least one of the more than 7,000 known rare disorders.

It's not actually that rare to have a rare disorder. 

But there's no official rare disorder register so it's difficult to know exactly how many people are actually affected. Chris Higgins, Chief Executive of Rare Disorders NZ, says they tend to be more conservative with their figures, and the number could actually be higher.

"The other thing that happens is that the number of rare disorders increases anyway as we understand that what we might have considered to be a common condition is actually made up of a number of sub-conditions, some of which will be rare."

March is Rare Disorders month, an opportunity to acknowledge and celebrate the approximately 300,000 New Zealanders who have something that makes them a little bit different.
But the latest survey from Rare Disorders New Zealand paints a continuing picture of isolation, lack of timely and accurate diagnosis, and poor treatment.

One response was, 'there's nowhere to go and I feel unheard and forgotten because I'm in the too hard basket'.

Many people said they felt invisible in the health system, and one in five who've successfully been diagnosed say that diagnosis took them more than 10 years.

 "It has to do with the lack of clinical knowledge around particular rare disorders that are in the system." Higgins says.

Listen to the full podcast to find out what Rare Disorders NZ wants that would change the lives of these people. 

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