The last time the Rotorua Daily Post spoke to Rotorua mum Anna Sutherland, her son Heath was about to finally get his super powers.
Heath was diagnosed with Type1 Spinal Muscular Atrophy (SMA) at aged 15 months.
The result of a deficiency of protein called SMN, the condition affects a child's muscular development - the earlier the symptoms are noticed, the more severe the type.
In May last year the Sutherland's believed their dreams had come true after Biogen, the company that makes the drug Spinraza, decided to provide the drug free of charge to Type 1 SMA patients in New Zealand under the age of 18 through its extended access programme.
Spinraza is the only FDA-approved treatment for SMA sufferers and has produced incredible results in youngsters taking the drug overseas.
However not long after Biogen announced its decision, Heath's SMA was downgraded to Type 2 by a panel of professionals reviewing all Spinraza applications that had been put forward by specialists, and he did not qualify for the programme.
"Basically Type 1 SMA sufferers cannot sit unaided but Heath has always been able to sit," Sutherland said.
"We've never hidden that from the medical profession - in fact it's clear on Heath's social media page he's always been able to sit.
"It was the biggest slap in the face for us and honestly set us back months mentally."
Sutherland said she understood there were now only two Type 1 SMA sufferers in New Zealand and more than 100 with Type 2 and 3.
"We now have a pretty strong group of parents and friends of SMA patients. We're an angry group, we're really outspoken and not a particularly nice group to say no to.
"I believe Heath is the worst Type 2 SMA patient in the country and is getting weaker every day. Ironically his ability to sit is slowly being taken away.
"Slowly SMA will rob Heath of every physical ability he has. From holding his water bottle to cuddling his teddy. Eating, drinking, talking, smiling and eventually his ability to breath unassisted will all be stolen away from him."
While the group continue to plead with Pharmac and Biogen to publicly fund the drug's use, the Sutherland's are trying to raise the money for Heath's treatment through crowdfunding site Givealittle.
The SMA medicine Spinraza is government-funded in Australia but not New Zealand.
In his first year on the drug, Heath would need six doses, given as injections in the lower back, each costing $110,000 - a total of $660,000 for the year.
"Please, please help us save Heath and give him a better quality of life."
Sutherland said Heath urgently needed to start receiving Spinraza.
"This treatment is the only chance he has at a better, longer life. He's never been able to crawl or walk - at almost three years old his knees are already starting to lock in place and both hips are out of joint due to lack of weight bearing."
Sutherland said in spite of the SMA, Heath was a sassy, cheeky toddler who ruled the house.
Pharmac, the Government's medicine-buying agency, evaluated an application for Spinraza funding last year.
Its pharmacology and therapeutics advisory committee supported deferring a decision until studies on the longer-term benefits for patients on Spinraza, also called nusinersen, were published.
Committee minutes said the reported short-term outcomes were promising, "however, the outcome of sustained preservation of function and motor milestones needs to be demonstrated in long-term data to inform a recommendation".
"The committee noted the high health need of patients and families living with SMA and the high level of consumer interest in nusinersen.
"Members acknowledged the many personal submissions that were considered by the [rare disorders] subcommittee describing the impact of SMA. The committee considered that the expectations of benefit are not supported by the currently available evidence for nusinersen in SMA due to the short-term duration of the clinical trials."