Cystic fibrosis sufferer Sinead Brown, 12, of Dunedin, has waited her whole life for a drug that could save her but now may not be able to afford it.
Without the drug, Sinead is not expected to make it to her 16th birthday.
Kalydeco was approved for use in New Zealand in December, but the high cost means the Government is likely to deny funding.
Kalydeco costs about $361,000 a year, and Sinead would have to take it for the rest of her life.
She was born with severe respiratory and nutritional problems and has been to hospital more times than can be counted, her mother, Andrea Neame, said.
"On a scale of one to 10 ... so one being very well and 10 being - you know - really, really seriously close to death, I mean Sinead's always sat at an eight to nine from the first year of her life."
Cystic fibrosis is a genetic, fatal lung disease. Neither of Sinead's parents knew they carried the recessive gene and knew little about the disease before she was born.
Six years ago the family found out about the early trial stages of Kalydeco, which has been proved to dramatically impact the quality of life for cystic fibrosis patients with the gene mutation Sinead has.
It is now being used in the United States, parts of Europe and Australia.
For Sinead, Kalydeco is essentially her last hope.
"I want it. I want it now ... please," Sinead said.
She needs a lung transplant which cannot happen until she is 16.
Her doctors said without Kalydeco she would not survive until she was able to have the transplant, Neame said.
As it is, Sinead takes a minimum of 25 pills a day and on a good day can only eat as much as a 2-year-old would.
She burns the same amount of calories a day oxygenating herself as an adult running a marathon, so she constantly lacks energy.
Faced with the possibility of not making it past the next four years, Sinead has started battling bouts of depression.
"She doesn't see hope for her future sometimes," Neame said.
Because of the cost there is a high probability the government agency that allocates drug funding, Pharmac, will not approve the family's application, Neame said.
Without government funding there was a small chance Vertex, which produced the drug, could fund it on compassionate grounds.
Kate Russell, chief executive of the Cystic Fibrosis Association of New Zealand, agreed that to expect Pharmac to fund the drug would be a long shot.
"I'm pretty confident that they will turn it down ... it's an extremely expensive drug," Russell said.
The reason the price of this kind of drug was so high was because it cost Vertex a lot of money to develop and produce but it could help only a small number of people, she said.
Only 4 per cent of people with CF have the gene mutation Sinead does which Kalydeco targets. That is about 26 people in New Zealand.
Russell said the Government needed to revisit the rules on how it treated highly specialised medication.
She called for a pool of money dedicated to these kinds of rare drugs.
Last year Pharmac denied funding to a drug called Soliris that effectively treats a rare blood and immune disorder.
Pharmac said the $670,000 cost per patient per year was too high. The drug is funded in almost every other OECD country.
"Highly specialised medicines are always deemed to fail," Russell said.
That is heartbreaking for Neame, who said the value of Sinead's life could not be measured in any monetary way.
Kalydeco would give Sinead a light at the end of the tunnel, which was exactly what she needed, Neame said.
"That's what it means to her. There's something to work toward," Neame said.
"It is definitely the last hope."
- © Fairfax NZ News
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