He’s bouncing from right foot to left. He has a gappy grin so broad it’s as if he’s smiling twice.

Not long ago he had a photo shoot with a child modelling agency — they got three times the photographs in a third of the time it took for other kids. Ashley owned the lens. His large blue eyes are always the last to look away.

Ashley’s not like other five-year-olds. He has a rare, incurable and deadly disease. It almost killed him in the first year of his life.

Now, he is here — leaping over and over into the air in the hallway of his parents’ small rented house — only because of the charity of a pharmaceutical company.

He is on a drug the Federal Government won’t fund. The 300mg of medicine he gets each fortnight is the cost of a family sedan. That’s $240,000 a year.

With it, he is healthy and lives. Without it, he will get sick and die. It’s that simple.

But the terrifying reality is this: Ashley’s future depends on the goodwill of a multinational company. Or the stroke of a bureaucrat’s pen and a politician’s nod.

So his parents say a silent prayer of thanks whenever he gets his dose of liquid gold. That’s two more weeks for a priceless son.

THE bottom bunk is Ashley’s. He shares a small bedroom with his two brothers. Baby Ollie is in a cot in the corner; Lachlan has the top bunk.

A fluffy Elmo blanket lies on Ashley’s bed. When he gets crook, the blanket comes out.

It might be 40C on an outer-eastern Melbourne day and he’ll drag it to the lounge room. Curl up under it on the couch. It’s the first sign Jason and Kerri Grey’s son will be back in hospital again.

There are downsides to the drug he takes. He’s susceptible to serious infection and goes straight to hospital for tests and hefty antibiotics if he has a fever.

Eculizumab stops the part of the immune system from working that fights meningococcal and blood poisoning. They can take no chance with a high temperature.

Yet with it, Ashley can now grow into old age. Smart minds can’t find a cure for aHUS, but the unique treatment works well to rein in his roguish immune system.

Australian authorities don’t fund Eculizumab for aHUS. It was turned down a year ago for inclusion on Australia’s Life Saving Drugs Program. It failed to pass the stringent criteria.

The same could happen again when a panel of experts considers again next month if it should recommend the Health Minister approve it. It could change the lives of up 70 Australians if it does. There are no guarantees Alexion will continue to fund Ashley’s treatment.

The global juggernaut has lately turned down many further pleas from Australian patients who need it compassionately. They’re waiting for the Federal Government to start paying. And while they wait, people get sicker and sicker.

THE SNOW is 15cm deep outside Steve Squinto’s Connecticut office window. It’s 6C below freezing and blizzard conditions. One little boy whose life he’s helped change is 18,000km away right now running around in shorts and T-shirt.

Ashley is one of hundreds around the world. The drug works so well that governments in 40 countries are funding it for aHUS patients.

Some people call Squinto the Steve Jobs of the biotech world. But for years, the drug company he co-founded could have been a $1 billion failure.

That’s how much money has been invested in Eculizumab. When the Yale University researchers hit on a potential way to stop a rampant immune system, in the early 1990s, they turned attention to treating big diseases.

It looked like it was going nowhere. Two and a half years after setting up a small lab, there was still nothing to show. And a decade later, there were only limited wins. It looked grim.

But the persistence of a British haematologist, who wanted to try the drug on some of his patients with an ultra-rare autoimmune disease finally paid off. Almost a decade after Alexion started, the breakthrough came.

Squinto remembers it clearly. He was finishing the final mouthful of his evening meal with his wife. The phone rang. It was a call from the UK. The results were in. The 11 patients on the trial were getting better.

The brakes went on the big diseases and the Alexion team switched its focus to rare ones. They started applying it to people with Ashley’s syndrome. It worked just as well.

Ashley was at the more severe end of the disease. But we still had a chance to reverse it with the right drug

Selling off the company with its brighter prospects crossed Squinto’s mind but he and co-founder Leonard Bell decided to see it through. “We aren’t really ‘hand-it-over’ kind of guys,” he says.

In the following few years, after approval as a treatment for aHUS, calls came through from physicians around the world. Families were begging for the company to allow them on to their compassionate program. Nobody could afford it.

Kidney specialist Joshua Kausman, from the Royal Children’s Hospital, was one of those physicians. He first saw a very sick Ashley in 2009. Ashley was a candidate for the drug Eculizumab (or Soliris, as it’s sold) because he continued to founder, to go further into kidney failure, despite their efforts.

Kausman recalls: “He was at the more severe end of the disease. But we still had a chance to reverse it with Eculizumab.”

Within weeks of starting the drug, Ashley was getting better.

JUST before New Year, Diesel, a black Labrador puppy, gallops at Ashley’s feet on the back deck. The kids got him for Christmas. The boy bounces a Slinky by his side, a wish granted by Santa. It had topped his Christmas list.

As Ashley tries to recite the name of his disease — Atypical Haemolytic Uraemic Syndrome — Diesel nips his ankles. He falters through the words: “Acypital Heemic Uric Syndrome.” It’s a bold effort, a medical mouthful, for a little chap.

A couple of years ago, he had it perfect. That he has forgotten is a good sign. For too long, his disease consumed the family — Mum, Dad and five children, including sisters Tahlia and Mikayla, who share the room up the hall from the boys. That unpronounceable disease isn’t talked about so much any more.

Now, Kerri and Jason (below) can value simple things. And they do. A family day at the beach with the dog. Camping at a caravan park. A backyard full of green grass. The din of small feet and voices. The swing set creaking with the to and fro of one child or another.

Kerri celebrates her son’s birthdays with tears through smiles. Five have passed, but those celebrations don’t lose their gloss. His start in life was so rough, she never believed he’d even see his first.

PART TWO

ONE word changed things for Australians like Ashley. “Substantially.”

It was inserted into Criteria 4 of the Life Saving Drugs Program in 2009 after a review. It was one of the more significant changes. People with rare diseases believe it’s helped nudge the program — and lifesaving drugs — out of their reach. All promise, but no delivery.

Criteria 4 now states for a drug to be accepted on the program, the Pharmaceutical Benefits Advisory Committee has to “predict that a patient’s lifespan will be substantially extended as a direct consequence of the use of the drug”.

In the world of medicine, rigour is everything. What does “substantially extend life” really mean? Megan Fookes, who lives with a rare disease, thinks the word made the process less objective. More ambiguous. She is the director of a growing force in rare diseases advocacy — Rare Voices Australia.

Ashley is just one person her group represents. But he is luckier, by far, than most. There is no doubt that his freebie medicine offers him a longer life. Substantially longer.

He started out as the simplest of babies. He always slept and fed as he should have. Bliss for a busy mother.

Kerri’s maternal attentiveness is framed on the wall of their home — she had moulds made of each of the children’s hands and feet when they were a week shy of five months. All done, despite the growing brood.

Two months after Ashley’s feet and hands were captured in plaster he became unsettled. Something triggered Kerri’s sixth sense one Sunday night and she took him to a new medical centre fearing something was terribly wrong.

“Jason told me to give him Panadol and put him to bed.” Her husband grins, sheepish, next to her on the couch.

The GP suspected he had anaemia. They told her to take him to Box Hill Hospital’s emergency department.

The consultation room was crammed with medics. There was chaos, hurried conversations, drips inserted, nurses rushing about with stainless steel trays of with needles and tubes. And pitying glances.

“That’s the first time I went ‘Oh, s..t, this is serious,” Kerri says. “They took him by ambulance within an hour to the Royal Children’s — in the meantime I’m still worrying about little things, like what I should do with the pram when I’m in the ambulance.”

She was about to learn how unimportant those things really were. For the next year aHUS became everything.

Once diagnosed, Ashley received the usual treatment for patients with aHUS. But it was only partly working. He had dialysis and plasma exchange. But his kidney function was dropping. It looked like Ashley wouldn’t grow up.

Chief among the big things to hit her was how much it would cost them if she and Jason had to pay for the wonder drug to keep Ashley alive. It was impossible. It is the most expensive drug on the planet.

Despite its costliness, it’s worth considering this: each taxpayer in Australia would forfeit just 1.9 cents every year to keep Ashley alive. If every known aHUS patient were to be funded, $2.22 every year is the most every taxpayer would pay. Most likely far less because it’s not effective with every patient.

It is not much. But for these people, it’s what their lives are worth.

It’s known as an orphan drug. They are usually expensive because they are developed for niche markets of ultra-rare disease patients. That very reason makes them easier for a public health system to stomach — so few people actually need to use them.

Megan Fookes says the Australian health system, despite more drug company research into rare diseases, isn’t supporting their successes once the results come in. To her it’s a sign that the small, rare disease cohort is considered second class at the highest levels.

She got her hopes up last year. A review of the LSDP was announced a month before the federal election. About 20 people hooked into a teleconference — department bureaucrats and representatives for rare disease patients, drug companies and doctors. There was a guarded but hopeful buzz on the lines.

But there has been nothing since. No emails, no calls.

Fookes is still hopeful. “I welcome the review. We need it.” She is supposed to be on the review panel. “We’re worried that the LSDP will go from bad to worse.”

Australia’s celebrated rigour in its medical research seems to be tripping up rare disease funding. Orphan drugs often fail the test to be on the program because rare disease groups are so small they often can’t meet the strident double-blind clinical trials of drugs for common diseases.

Medical practitioners venture that if this approach isn’t throwing the baby out with the bathwater, it’s getting pretty close.

And Fookes is bewildered.

“For some reason, rare diseases patients have to plead for their lives. People like Ashley aren’t sick from overeating, or smoking, or taking illegal drugs. They’re born with the disease. But as far as the Federal Government is concerned, it’s bad bloody luck”.

JASON raced to the hospital from his job in Geelong the day they learned Ashley might die. How he didn’t get a speeding ticket was pure good luck. He sat next to Kerri in the Royal Children’s Hospital ED cubical as Kausman explained what the tests had revealed.

In that room, Kausman was telling them something like this: A part of Ashley’s immune system — the “complement” — had been triggered into uncontrolled action. How? They didn’t know. Most likely a genetic defect. It was constricting the blood vessels, making platelets form clots and putting physical pressure on his oxygen-carrying red blood cells, which were breaking apart. He needed dialysis. There was no cure. The disease was deadly. Their son could die.

But what Jason heard was all muddled. None of it made sense. The words wouldn’t sink in.

“I remember sitting there with the doctor, turned to Kerri and asked her: “Kez, what’s going on?”

“She was just crying, saying: ‘I don’t know, Jase’. That’s when I knew it was serious.”

Haematologists, nephrologists, immunologists, surgeons and paediatricians assessed the critically ill boy that day. By 6pm he was in surgery to prepare him for dialysis. Compensation for failing kidneys.

Jason threw in his job with a mattress company so he could care for their three children back home. (Ollie was born three years later.) Kerri spent a year with Ashley in hospital. She operated on autopilot for weeks at a time, then would fall in a heap for a day, pick up again and reset to autopilot.

Jason became like a single parent to the other children. For a while he kept a distance from his sick boy with the pool-blue eyes.

“Deep down I think I must have decided if I didn’t get close ...” Jason falters, “it would make losing him easier.”

THE figures don’t look good for the Government. Since 2009 — when “substantially” was inserted — treatment for only one new disease group has been added to the list of beneficiaries from the program. That group was already 80 per cent through the approval process anyway.

Another drug was also added, but it was an update to a disease already covered before 2009.

Pharmaceutical Benefits Advisory Committee chair Dr Suzanne Hill declines to be interviewed about the life saving drugs program. She responds politely that it would be inappropriate to answer even general questions with the Eculizumab-for-aHUS decision pending.

A rare diseases representative, speaking on condition of anonymity, told the Herald Sun, that a meeting with Hill was particularly frustrating.

“She listened to what we said and seemed sympathetic. But at the end, she said: ‘It’s the politicians you need to be speaking to, not me’.”

Kerri Grey, who established Australia’s aHUS support group, believes the Government has more money it could spend, but doesn’t. The dollar figures are enveloped into broader programs.

“The programme is demand-driven depending on need,” stated an email quoting chief medical officer Professor Chris Baggoley in response to a request for an interview.

The idea of the program was to allow access to these targeted rare disease treatments that can’t pass the Pharmaceutical Benefits Scheme’s cost-benefit test. Fookes says that worthy aim has been diluted over time.

“As more drugs for rare diseases become available, it is harder and harder to get them listed,” she says. “I think they wanted to slow up the program, but they basically stopped it in its tracks.”

ASHLEY’S parents see how close he sits to the cliff edge. Kerri had frantic contact from a Queensland mother just before Christmas. She often hears stories that might be Ashley’s without Eculizumab.

Bianca Scott (right) lies in a Gold Coast hospital bed, tired and ill. For hours a day she has dialysis to do the work of her failing kidneys. She has plasma exchange to try and switch off her crazy immune system. The treatment is not working.

Bianca Scott had aHUS as a baby. Three weeks ago, her mother, Tammy Hamawi, listened to the rasp of her daughter’s fluid-filled lungs struggling for air as she slept. Would that breath be the last? She thought that night might be the time she’d lose her only child.

Bianca had aHUS as a baby, but went into a surprise remission. Looking back on some of her school leavers’ formal photos from October, she was pale and drawn. It was the start of her rapid drop.

The disease is in Bianca’s family. Some relatives from decades before died young from kidney disease, now known to be caused by aHUS.

Eculizumab is beyond Tammy’s reach. She’s asked Alexion for a discount price, but it has turned her down. Kidney experts have told her Bianca has two months before her kidney damage is irreversible. She’s now trying to find hundreds of thousands of dollars to pay for her girl’s life.

While experts ponder and politicians delay, children like her slide. Still, Tammy is an optimist. She hopes Bianca might be the first in her family to break the aHUS curse. But she’s running out of time. And, with it, hope.

ASHLEY darts ahead and around the corner of a corridor at the Royal Children’s Hospital. By the time his mother spots him again, he’s leaning in close, pulling down his bottom lip and showing off the gap in his teeth to a cleaner who’s crouched down to chat.

He got $5 for that. And there’s another one loose beside it. That’ll be $10 in just a week.

The RCH staff have seen Ashley bottom out with his disease, founder on invasive treatments, then bounce back with his $9000-a-dose drug. Hearing about their little patient’s tooth fairy visit is warming. Kids should feel well enough to celebrate the small things.

One nurse remarks they love being rostered on when Ashley comes in for his fortnightly infusion. There’s no fuss. He smiles and pulls up his T-shirt for the drip to be connected to his portacath, just under the skin to the left of his heart.

He doesn’t know much about his disease.

His “special medicine” is part of life, like vegetables for dinner and brushing his teeth. He doesn’t know how close his parents came to losing him. He doesn’t know what his life costs. Nor should he.

Instead, Ashley Grey falls asleep in his car seat on the way home from hospital. His head slumps to the side. He dreams of being a dolphin when he grows up, of yipping puppies and Slinky springs. And how he’ll spend his $10 fortune.

For more information on rare diseases, CLICK HERE.

ruth.lamperd@news.com.au