LET DOWN: New Plymouth's Laurie Hill is dying from Pompe Disease and has gone public with his story to try to convince Pharmac to fund a treatment to help prolong his life.

Laurie Hill can't afford to live.

The 49-year-old New Plymouth man has a rare medical condition and without an expensive treatment – which Pharmac says will cost almost $1 million a year and may not even work – he believes he is being sentenced to an early death.

Mr Hill is dying from Pompe Disease, caused by an enzyme deficiency which causes muscle damage.

An enzyme replacement therapy treatment called Myozyme became available in 2006 and 45 countries provide it with government support. New Zealand and Australia have chosen not to.

Pharmac, the New Zealand Government's drug funder says it has not seen enough evidence to justify the high expense but says it will look for more information about the treatment.

Mr Hill, one of only four people in New Zealand with the condition, says the decision not to provide the treatment is an opportunity lost, which will lead to lives lost, including his own.

He says the treatment might not offer a cure but it does offer stability of deterioration and the possibility of increased muscle strength.

"When you're dying of a disease that sort of offer is huge."

He was unhappy after the four New Zealand sufferers met Pharmac in April to try to understand why the treatment was not being funded.

"They were anything but sensitive. They tried to make us feel guilty for having the disease and wanting to save our lives."

Mr Hill says despite the cost, it's not unreasonable to give the treatment a chance.

"I'm dying of a disease and treatment is available, but I'm not stupid.

"If the treatment isn't working two years down the track then we will put our hands up and say it's not working and pull the pin.

"None of us have an interest in wasting money, we just want a chance to see if it works," Mr Hill said.

Pharmac has a fixed budget of $710 million.

"This means we have to take a careful approach to choosing the funding options that represent the best value for money to patients and taxpayers," medical director Peter Moodie said.

Some other similar disorders are funded. Eighteen patients with Gauchers Disease receive support valued at $1.5m a year and funding is provided for one patient with Hunter's Disease at $500,000 per year.

Dr Moodie said the door was not closed for sufferers of Pompe Disease and Pharmac was seeking further evidence on the enzyme replacement therapy's effectiveness.

Mr Hill, a father of two, was diagnosed with the disease after a near-fatal tractor crash while farming in Waikato in 1990.

"It was a huge blow when I was told what I had, especially when doctors said I only had six months to live – but at the time they were wrong. "To not see your kids grow up is the worst thing imaginable as a parent."

It was 12 years before Mr Hill sat his children down and told them he was dying.

"The kids were four and five when I was diagnosed and they were 16 and 17 when I really told them the truth."

He said raising his children in a normal environment was important to him and he didn't want his children to worry or pity him.

After the accident he was no longer able to perform physical labour and took up possum trapping.

Eventually the disease wore him down to a point that he needed to re-train and he moved to Taranaki where he spent 20 years primary school teaching.

He worked at Woodleigh Primary and then Mimi School, near Urenui, before spending eight years as deputy principal at Marfell. He quit because he felt he could not provide his students with the energy they deserved.

He studied for his masters in counselling, graduated in 2009, and has been working as a counsellor with domestic violence victims at Tu Tama Wahine o Taranaki for almost a year.

Mr Hill has been restricted to a wheelchair for five years and describes his prognosis as "not good". The most common cause of death for Pompe sufferers is lung failure.

"I'm terminal. There's no doubt that I'm dying."

Mr Hill could go into respiratory failure at any time and already requires breathing assistance while sleeping.

He said his call for funding wasn't about excluding money from other areas or people but about being given a chance of getting medical treatment.

"The people of New Zealand are the most important thing in this country. Nobody cares about flowers and chauffeurs and rubbish like that. That's money that should be put in to health," he said.

More information on Pompe Disease and New Zealand's four sufferers is available at the New Zealand Pompe Network website, www.nzpompenetwork.weebly .com/index.html.

POMPE FACTS

Named after Dutch pathologist Johann Pompe, who characterised it in 1932.

Damages muscle and nerve cells throughout the body.

Leads to progressive weakness in the heart, muscles, liver and nervous system.

It is thought 5000-10,000 people worldwide have the disease, which is caused by an inherited gene mutation.

Treatment with Myozyme would cost $1 million per patient each year.

The "rarest" disease Pharmac is providing treatment for is Hunters Disease, with one patient at an annual cost of $500,000.