"Watershed moment" - Government's commitment to developing a national rare disorders strategy

According to Chief Executive of Rare Disorders New Zealand Michelle Arrowsmith it was a watershed moment for the rare disorder community, who had been campaigning for a framework like this for several years.

"In 2021 we formally launched our Fair for Rare campaign calling for a New Zealand National Rare Disorder Framework with seven strategic priorities we had identified as essential to ensuring equitable healthcare for all people living with a rare disorder."

She says the foundation is working with the Ministry of Health to ensure the lived experience voice is included in developments. 

Arrowsmith says the strategy will formally acknowledge the rare disorder community as a population group with complex needs and unique challenges, helping them find the support they need.

One of the issues of rare disorders is there isn’t much awareness or education around them which often makes diagnosis a long and difficult road.

The strategy's first priority is early and accurate diagnosis, which for people like Janneth Gil would have made the world of difference.

The Colombian-born but now Christchurch local has Pemphigus Vulgaris, a rare autoimmune disease that appears as painful skin blisters and erosion, equivalent to third degree burns.

The condition is extremely rare, affecting only one in every one million Kiwis.

For Gil, it was her own research that led to her finally getting her condition officially recognised.

“Some people didn’t take me seriously, they just started giving me antibiotics and other people just didn’t believe me that it was something more sinister than a little blister.”

Gil’s experience is not abnormal, Michelle Arrowsmith says living with a rare disorder can be incredible isolating and lonely.

“For many people they feel invisible and lost in the system.”

She often hears from people who don’t know where or who to turn to for information and support...and of individuals having to fight for the care and services they need to lead a somewhat normal life.

The diagnosis process for a rare disorder is difficult, however finding and funding the correct treatment can be even harder.

One option for treating Gil’s condition was Rituximab, a type of treatment usually used for treating rheumatoid arthritis and some kinds of cancers.

Unfortunately, funding was only approved by Pharmac for cancer patients at the time Gil needed it.

“At that stage, treatment and administration was very expensive, about 10,000 dollars for one dose.”

In the end friends started a Give-a-Little page, raising more than $10,000 so she could get just one dose.  

However having the money didn’t make things any quicker, because in her experience priority of the medication was given to cancer patients in the private sector, even if her disease has the same or greater mortality rate and isn’t curable.

“I think is unfair from a patient point of view that some people get medications funded for some health conditions and others don't get the same medication funded other health conditions. Where is the equity in that?”

Another priority is establishing a National Rare Disease order. Arrowsmith says New Zealand doesn’t currently have a definition for rare disorders and without this or a register it’s impossible to know exactly how many Kiwis are affected.

The remaining priorities include workforce development, and research to better understand and support both rare disorder patients and the staff treating them. It also prioritises more access to disability and social support and planned pathways for clinical care to ensure everyone in Aotearoa has equal access to the services they need.

Janneth Gil runs a photography business but has to say no to many clients because her condition leaves her feeling physically drained. She’s struggled to get funding for support because of the lengthy application process and the fact her condition isn’t well known or understood.

“I don’t look sick, which makes things more difficult, I feel I don’t get treated fairly. Except for those health professionals that go the extra mile. They made a huge and positive impact in our lives.” 

She says it’s important to implement a strategy that closes the equity gap and takes into consideration the different needs of people.

She encourages communication between different health organisations and staff because treating rare conditions require multiple specialists' input.