A month shy of her second birthday, Lower Hutt toddler Elenna McKinstry still wears size 0 clothing. At 8 months old, she was in the 0.001 percentile for weight.
Elenna has a condition so rare she’s falling through the gaps of New Zealand’s health system.
She is the only person in New Zealand with her genetic disorder and there is simply no box to tick on the Pharmac application form for the recommended growth hormone to help her live a life above five feet tall.
Small at birth and struggling to feed, Elenna was initially diagnosed simply as “failure to thrive”, says mum Rhiannon.
“Which basically means ‘we don’t know what the problem is’.”
Her eventual diagnosis was for an extremely rare, unnamed condition which affects just 100 people worldwide.
“She was diagnosed just before lockdown with a condition that doesn’t actually have a name, it’s that rare,” Rhiannon says.
“It is a deletion on the 15th chromosome… she is missing one gene in particular that people are worried about, which is a growth hormone receptor gene, so she is very small for her age.”
At this stage the condition is simply known as IGF1R deletion. On diagnosis, Rhiannon was handed a pamphlet with everything that was currently known about the condition, featuring literature on about 30 individuals.
“It basically goes through a catalogue of things that were wrong with people who have it, what the potentials are that might go wrong and that you might expect,” she said.
“It’s things like holes in the heart and diaphragmatic hernias and ectopic kidneys… Some people have seizures, some people have epilepsy – nearly every single one has some form of mental or developmental delay.”
Other than her short stature, Elenna’s other symptoms included a speech delay – she has just several words at nearly 2 years of age. She also has low appetite and eats very little.
With GPs having never heard of Elenna’s condition, and no specialist available in the country, Rhiannon has to be the best source of information available to her daughter.
“I’m in contact with a whole lot of other parents on Facebook, but basically I have to be Elenna’s advocate for what she needs because no one else in New Zealand really knows anything about it.”
Rhiannon’s concern is that without growth hormone, Elenna will be too short to drive.
“She’s likely to be less than five feet tall,” Rhiannon says.
“As well as being short naturally, because they don’t pick up as much of the growth hormone, they also have a much shorter time for growing.
“Bone growth happens a lot faster, so their bones are all going to fuse by the age of 8 or 10 rather than 15 or 16.”
At 2, Elenna would be eligible to apply for growth hormone – a drug called Somatropin -but the rarity of her condition excluded her from the Pharmac application form altogether.
“Elenna is too big to get the growth hormone even though she has a recognised, diagnosed, chromosomal problem involving the growth hormone change.”
Pharmac director of operations Lisa Williams says the drug Somatropin is funded for children, adolescents and adults with growth hormone deficiency who meet certain criteria.
“Some medicines in the pharmaceutical schedule, like somatropin, have clinical conditions that must be met before funding will be granted.
“These conditions aim to ensure that access to funded medicines is available for those who would benefit most from treatment.”
Williams says Elenna may be eligible for somatropin through a special authority waiver if her circumstances “meet the spirit or intent” of criteria, if not the technical requirements.
A Named Patient Pharmaceutical Assessment (NPPA) could also be used to consider a patient with exceptional circumstances.
Williams said Pharmac adjusted its funding application criteria in 2018 to improve access for sufferers of rare disorders.
“Unlike other medicines, rare disorders medicines are not required to have gained Medsafe approval before they can be considered by Pharmac for funding,” she said.
“Medsafe approval is required, however, before Pharmac will fund the medicine.”
But elsewhere in the world, better recognition for rare disorders in the health system mean a smoother pathway for patients such as Elenna.
“Lots of other people in the States and the UK are automatically funded for growth hormone because of their condition,” Rhiannon says.
“But New Zealand hasn’t quite caught up with the rest of the world in terms of a rare disorder framework.”
A national strategy for rare disorders – as is in place in many countries throughout the world – is one of the missing pieces that could stitch together a better treatment plan for people with unknown conditions.
An organisation called Rare Disorders NZ is the only body of support for the 300,000 Kiwis living with rare conditions. They have spent the past few years pushing for the government to fund them better and to provide an official framework of support within the New Zealand health system.
Rare Disorders NZ Chief Executive Lisa Foster said Elenna’s case was just one example of the “exceptional barriers” of having a rare disorder.
“Because she isn’t fitting the box, it’s always going to come with additional barriers… it may be education, way down the track when she’s got the growth hormone.
“It’s very easy to dismiss because it’s one person, but you add up all those people facing varied barriers that are accumulatively significant.
“It ends up being not a fringe issue, but lots of varied challenges … they’re a sizeable group of people.”
Around one in 17 Kiwis live with a rare disorder.
The organisation was in contact with the Ministry of Health about the development of a national framework, and an 8000-strong petition on the issue was taken to Parliament earlier this year.
A Ministry of Health spokesperson said a meeting in March had focused on “opportunities for improving data collection on rare disorders”.
“A range of work is under way, including the Health and Disability System Review,” they said.
“This will deliver a more integrated, patient-centred health system and improve the health and wellbeing of all New Zealanders.”
Foster said the Health and Disability System Review does little to include people with rare disorders specifically, but she was hopeful for some long-term change.
“There’s lots of engagement, the Ministry are very supportive and … I think there’s a lot of hope for aspirational future change in the long term,” she said.
“But in the short term we need action, in the short term we need funding, in the short term we need resourcing and we need some formal recognition.
“We just want to be included, it’s pretty simple. Don’t leave us behind because we’re not seen.”
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