The Best Australian Science Writing 2014

by Ashley Hay

  As a result I’m not contagious. My partner, family, friends and the guy next to me on the train are all safe (my household is given mantoux tests, to be sure). Most blessedly I haven’t endangered the newborn nephew I visited in hospital weeks earlier. The phone call to his parents, before the all-clear, is the hardest I have ever made.

  Samples of my bug are sent to laboratories in Queensland and Melbourne and coaxed into growth. It will take two months for them to yield the details of my infection – what it fights off, what it will respond to. Meanwhile the strategy is to nuke the bugger with an arsenal of best-guess antibiotics, all tailored in a kind of chemical offensive to cover all bases and each other, although the doctors admit they are flying blind until the phenotypic analysis comes in – directly testing the grown organism against various drugs.

  There’s another option. Do nothing, and pray that I am among the one-third of patients who just miraculously recover. If there was even a moment of temptation it vanishes with the advice that I’d then run the risk of becoming infectious. Bombs away.

  I’m stabilised, transferred into the care of specialists at Monash Medical Centre and sent home, where I’m visited every evening by nurses. They run a 30-minute IV from the magazine rack perched over the sofa; check or change the dressing on my PICC; record my ‘obs’ and take my blood; gently ask about my state of mind (scatty and often stoned) and bowels (don’t let’s start); check the jam-packed dosette box to be sure I’m keeping on top of my medication. They are on my side, even nagging the final-year-of-high-school son in the front room to Get Off Facebook. Without them I’d be months in hospital.

  There are, of course, side effects to the drugs and there’s an enormous potential for surprising reactions. There are mundane complaints such as headaches and fatigue, thrush and diarrhoea, wild dreams and a terrible taste that overwhelms all food, ruins coffee and spoils the wine I shouldn’t have. There’s a perpetual ache in my chest (pleural scarring) that flares when I sigh or sneeze or laugh. My daily regimen now includes amikacin, cycloserine, pyrazinamide, ethambutol and moxifloxacin. I’m closely monitored for risks including hearing loss, eye damage, liver damage, kidney damage and, my personal favourite, psychosis. Of the latter, the kids want the doctors to explain: how would they tell?

  So far so good on all fronts, whatever you might hear otherwise.

  * * * * *

  According to the best guess of the World Health Organization, I am one of an estimated 650 000 MDR TB cases worldwide. But the real reach is impossible to know because the technology required to diagnose it is so expensive and specialised that only 5 per cent of TB patients are ever tested for drug resistance, says MSF’s Cathy Hewison.

  The vast majority of patients will never have a nurse drop by in the evening with their IV. They live in places like The Corners in Daru, PNG. That they might ever realise even the most pared-back version of my treatment is unimaginable. Their prescriptions will not be tailored to their conditions. They will likely suffer toxic effects – maybe lose their sight or hearing – from drugs that do them no good whatsoever, and miss out on therapies that work. If they have access to a program at all ‘the doctors might feel better’, says Hewison, but such regimes deliver little prospect of improvement to the patient.

  In nations such as PNG, Australia’s closest neighbour, where TB has raged largely unseen – thanks, until recently, to the lack of diagnostic tools – and often unchecked, fragile health systems are already overwhelmed by the burden of the disease. When epidemiologist Dr Emma McBryde, from Melbourne’s Burnet Institute, conducted a landmark survey of hospitals and remote aid posts in PNG’s Western Province in 2012, she was stunned to find almost every bed taken by TB, the disease sucking up scarce resources and limited capacity, marginalising other urgent health concerns. Some nations – notably South Africa – are considering bringing back sanatoria to confine the sick and contain the spread.

  The McBryde report estimated the prevalence of registered TB in Western Province at about 500 cases per 100 000 people, on par with acknowledged international hot spots such as Mozambique and Cambodia. ‘Nevertheless, the true incidence of TB is likely to be even higher due to poor access to health care and poor rural health services in the region,’ she reported.

  While Western Province has attracted wide media interest and huge investment by AusAID and other agencies, that’s more likely due to political sensitivities and geographic proximity to Australia than to its situation being any more deserving or its systems any more burdened than some other parts of the country. Experts say that while Western Province is likely to have one of the worst TB profiles in PNG, there are other critical hot spots, including in settlements in the major cities. Research presented at a TB symposium in Melbourne in June 2013 indicated a prevalence of more than 1000 per 100 000 in adjacent Gulf Province – second only to Swaziland. [The data was published by BMC Infectious Diseases in February 2014.]

  ‘I think we need to be worried,’ Dr William Adu-Krow, the WHO chief in Port Moresby, had said when I interviewed him the previous December (three months before my interest in the subject became more personal). WHO’s own updated and stillto-be-published findings were also ‘very dramatic’, he said, ranking PNG amongst the ‘worst in the world’.

  ‘Papua New Guinea is one of the few countries with a prevalence rate of more than 500 TB cases per 100 000 population. It was 534 in 2011, which is more than triple the regional average of 138 and the global average of 170 in 2011.’

  The arrival of new diagnostic technology in 2012 is signalling a drug-resistant TB epidemic which is, he says, ‘off the charts’ in Western Province and neighbouring Gulf Province. About half of the TB-positive sputum tested in Daru Hospital after the arrival of a geneXpert diagnostic machine in May 2012 was showing as multidrug-resistant (MDR) TB.

  Those early findings ‘gave everyone a shock’, though they were likely biased in that samples from the most suspect cases were the first to be tested, says Ben Marais. ‘But overall … these are alarming numbers, and cases are far more widespread than anticipated.’

  * * * * *

  When I visited in August 2011 the hospital wards were derelict and overcrowded. There were too few nurses and drugs were in short supply. There was no doctor to be found. The X-ray machine was broken. ‘Poor old South Fly,’ one veteran Australian aid official told me, ‘seriously, God forgot them’.

  Since then there have been substantial investments in health in Western Province – by Australian taxpayers (more than $30 million in that province alone), the Global Fund and aid agencies led by World Vision – all aimed at improving what were recognised as desperate conditions. As well as the new specialist 22-bed TB and isolation ward, the coveted geneXpert diagnosis machine and a new X-ray machine and there’s a commitment by PNG and Australian authorities to recruit specialist medical staff to Daru, although this has proved an ongoing challenge.

  Cure rates for people with TB in Western Province improved from 45 per cent in 2012 to well over 60 per cent in 2013, according to World Vision PNG country director Dr Curt von Boguslawski. He gave much of the credit to programs extending support inside communities like The Corners – health workers reaching in to locate and support people with TB, making sure they take their medicine. ‘There is still a lot of work to be done – 85 per cent is the world standard.

  ‘There is a lot happening. It’s on the agenda now, people are talking about it,’ he says. ‘At times it is very frustrating ... [but] for the first time we have some hope. For the first time in PNG we have country-wide reporting of TB cases. And for the first time we have secure access to TB drugs.’

  Less optimistically, the capacity of organisations such as World Vision and others is largely determined by the machinations of the wider realpolitik. Support from the Global Fund – which pools private donations and state money, including from Australia, and is now the world’s largest financier of HIV, TB and malaria programs – has been precarious for PNG programs, but a $13
million grant was locked in to tide the programs over until late 2014.

  The Global Fund is itself strapped for cash. It wants the PNG government, enjoying the windfall of a resources boom, to channel more of its own money into the critical task of tackling TB. Meanwhile an audit has undermined confidence in the capacity of the PNG Department of Health to administer Global Fund grants. And wealthy nations, including Australia, continually review their capacity to invest in international aid according to domestic budgets, priorities and pressures.

  For a minute, quite early on in the hospital phase of my treatment, I imagined that at least I might now claim a bona fide affinity with the people I so often write about. Michael Leunig has a prayer called ‘Blessing in Disguise’ in which he gives thanks for the common cold: ‘Nature has entered into them; Has led them aside and gently lain them low to contemplate life from the wayside; to consider human frailty; to receive the deep and dreamy messages of fever ... the insights of this humble perspective.’

  But TB is not a cold. The neon-flashing revelation, when it comes, is that by virtue of sickness I am now further removed from the wayside of The Corners than ever. Some 95 per cent of TB deaths occur in low- and middle-income countries.

  I’m the most privileged TB sufferer in my wide acquaintance – an otherwise healthy white woman in a wealthy country, attended by a small army of specialists and devoted carers, with unfettered, unbilled access to expensive, albeit frighteningly toxic, pharmaceuticals.

  Not once do I contemplate having to confront the obstacles and agonies endured by TB patients I have met in places like Daru. Indeed, all being well, the worst consequence for me will be life interrupted, a spanner thrown into plans for work and travel. I am not one of the fevered, long-suffering patients I have seen wilt and expire while they wait for treatment.

  I may have fluffed the getaway. But I was born with my ticket out.

  Weather and mind games

  Massimo’s genes

  Massimo’s genes: Medicine at the genetic frontier

  Leah Kaminsky

  As soon as the midwife placed my newborn son on my belly, moments after a 23-hour labour brought him into the world, I started counting his fingers and toes. I checked his fontanelle wasn’t too big. Or too small. Or bulging. Or sunken. I looked closely for a squint, unusual lumps on his ears, a receding chin, any sign of respiratory distress. I ran my hand slowly along his spine. Most parents I have spoken to over the years describe the first meeting with their baby as it emerges into the world in radiant or spiritual terms; a moment of exaltation. I, on the other hand, spent those precious moments at the starting line of our life together, scanning my son’s tiny 2.9 kilogram body for imperfections.

  It’s how I roll. I have dedicated much of my working life to routinely checking newborn babies. I always set aside a halfhour slot so I have time to examine them thoroughly. Sometimes because of this I can run quite late, keeping the next set of young parents anxiously waiting. I hate it when this happens. Not only are they often shattered by lack of sleep, but they are also weary from Baby Tourism – that endless stream of relatives and friends popping in to visit, staying way too long, expecting to be served cake and coffee, oohing and aahing as they peer into the crib – ‘he has Uncle Freddy’s nose’, or ‘she has Grandma Zelda’s earlobes’. The truth is though, most parents are anxious as they wait to see the doctor because they want the security of knowing their baby is healthy.

  One wintry day back in 2008, Stephen and Sally Damiani walked into my office, proudly holding their first newborn son. It was particularly frantic at the clinic, so I bypassed the chit-chat and went straight over to little Massimo. There is a fixed routine for examining a neonate head to toe. You need to completely undress the baby. First weigh them. Measure length and head circumference. Check the colour – pink is good, blue is definitely not. Palpate the fontanelles, look for symmetry of the face, insert a gloved finger into the mouth and use a torch to make sure there is no cleft palate, feel the tiny space between the skull bones, listen to the rapid lubdub of the fledgling heart. Feel for clicks in the hips as you splay their legs out like a frog. The stepping reflex is always good for a laugh – I tell parents their baby is a genius who already knows how to walk. Leave the Moro reflex for last, because as you hold the baby’s hands together and then let go, it will inevitably startle and let out a shriek. In essence, when you examine a baby, always look for something you don’t want to find.

  Irish author Anne Enright writes in Making Babies of ‘the anxiety of reproduction, the oddness of it – and how it feels like dying, pulled inside out’. Up until recently I’ve been in the habit of breathing a sigh of relief at the end of a normal examination, as I say to the parents, ‘Your child is perfect.’ It rolls off the tongue so easily and is the quickest way to engender beaming grins all around. But lately I’ve been thinking about this seemingly innocuous phrase and have substituted the watered-down, ‘Everything seems to be okay’. I remember as a young paediatric resident working at Prince of Wales Children’s Hospital in Sydney, calling a senior consultant once when I had found some abnormality during an examination. He told me to check for two more imperfections – ‘things come in threes with FLKs.’ In those days we used this coded term when the parents were present beside the crib for a baby who in some way seemed unusual and warranted further investigation. FLK: Funny Looking Kid.

  Massimo Damiani had a 2-millimetre skin tag at the base of his spine. I remembered my professor’s warning of the Trinity of Affliction and so spent time scouring the baby’s body for any other signs or anomalous structures. The rest of his examination was thankfully unremarkable, but an X-ray revealed unusual tethering at the base of his spinal cord, a malformation that would most likely need surgery further down the track. Stephen and Sally were devastated. None of us realised then that it was only the start of this little guy’s journey into the world of the unknown.

  From my notes in Massimo’s file: ‘Parents have been trawling the internet for information. They have multiple questions I cannot answer.’

  * * * * *

  When the Eagle landed in Tranquility Base in 1969, I was a little girl seated on the rug in our living room, watching the live broadcast on a black and white TV screen. For a kid who had never travelled much beyond the sleepy Melbourne suburb of Elsternwick, let alone been able to imagine a voyage into space, watching Neil Armstrong step down from his lunar module onto the Moon’s surface, I felt anything was now possible.

  Years later, floating weightless in the International Space Station, Colonel Chris Hadfield, a Canadian astronaut, says you can’t live a worthwhile life without taking risks – it is only in this way that dreams and fantasies are turned into reality. He spoke about overcoming his fears via a satellite link-up to William Shatner, aka Star Trek’s Captain Kirk.

  ‘You have the opportunity to go around the world every 90 minutes with the view of Earth from your window. All you have to do is flip yourself upside down and suddenly the rest of the universe is right there at your feet.’

  Turning things on their head is exactly what Stephen Damiani has done in the worldly sphere of personalised or genomic medicine. A friendly, unassuming guy, who sports glasses with bright red frames, he has no college-level medical training. From his home-base ‘Mission Control’ in Elsternwick (the same suburb I grew up in during the ’60s) Damiani has been the architect of a complex family genetic project, organising to have his wife Sally’s, son Massimo’s and his own genomes – the complete set of genetic material (DNA) carried within each cell of the body – mapped and compared. Inspired by his childhood astronaut heroes, Stephen was driven by the need to find a diagnosis for his son’s unknown genetic condition, which became apparent after his first birthday when his development deteriorated rapidly. He was presumed to have some form of leukodystrophy that is characterised by a disorder of myelin, the substance that coats nerve fibres and enables transmission of electrical impulses throughout the nervous system.

>   ‘Like any small boy I was always fascinated with aviation, aerospace and all things pointy and fast,’ says Damiani. ‘I remember staying up late to watch the first space shuttle launch when I was in grade four and was in awe from that point. The space program always seemed to be at the cutting edge of science, technology and engineering, going further, faster, higher and into new frontiers with every step. It was an era when science was inspired by imagination and anything was possible. When we reached the end of the road in trying to diagnose Massimo in December 2009 we needed to engineer a miracle. If we were to achieve a diagnosis we needed to separate science from finance and allow researchers to be inspired by imagination, rather than be hindered by ivory tower ethics, bureaucracy and budgets.’ He set up a charitable fund called ‘Mission Massimo’.

  Stephen follows in the footsteps of parents like Augusto Odone, whose story inspired the 1992 film Lorenzo’s Oil, starring Nick Nolte and Susan Sarandon. Augusto was told 20 years ago that his son Lorenzo suffered from a rare, crippling genetic disease called adrenoleukodystrophy (ALD) and had, at most, two years to live. He and his wife were determined to find a cure for him despite being told this may be impossible – 50 per cent of leukodystrophies remain undiagnosed. They were warned that with no medical training they would be unable to understand the specialised medical literature and, like the Damiani family, that there was little hope for their son.

  ‘I cast my mind back to the start of perhaps one of the most extraordinary periods of advancement in science, technology and engineering, the 1960s space race,’ says Stephen. ‘President Kennedy’s challenge to the American people of landing a man on the Moon and returning him safely to the Earth before the end of decade. The Apollo program may have been politically motivated, to some degree, but it united a nation into achieving a common goal and the results were nothing short of spectacular. Massimo needed an Apollo program.’