The Upside of Down (4 page)

Already panicked about studying at Stanford, half-convinced that my admission is some kind of an administrative mix-up, this doesn't help. I quickly excuse myself to have a crisis of confidence in the bathroom.

***

Two and a half years later two remarkable events had occurred. First, I was able to finish my degree without calculus. Second, a relationship emerged after that first dismal conversation and became a marriage.

Darryl was athletic, intelligent and attractive. About five years after our marriage, more or less in line with my supposed life plans, we had a baby. It took us a while to conceive, the pregnancy was slightly troublesome and then there was the surprise of Aidan turning up early. Those things happen. But apart from being premature, he came with fierce blue eyes, no hair, a curly toe and cystic fibrosis. In my naïve view of the world, this wasn't meant to happen.

But here we are, sitting in a room that is completely devoid of personality, furnished like millions of other hospital consulting rooms around the world. It's the day of Aidan's diagnosis and we're waiting for the doctor and geneticist to arrive. I look around at the pastel print on one wall, a clock on another, several stiff upholstered chairs and a small beige couch. It even smells clinical, sterile. When the doctor enters, he's carrying only a thin manila folder: Aidan's medical file. How long will it be before this file is too heavy to hold in one hand, each page representing a painful piece of his story?

We are given plenty of information at the hospital. Much of it bounces off me, hard; I'm battling just to absorb the shock. Looking over at Darryl, I recognise that focused look—emotionally distanced, he's processing the information like it's an economics lecture with material he needs to know. Despite my pained expression and glazed eyes, the doctor and geneticist press on; they gently supply the essential facts, knowing we may need these answers by the time we get home.

‘About every 2,500 births there's one baby born with two faulty genes on chromosome number seven,' explains the paediatrician. ‘And that gene leads to a failure of the cells to deal properly with chloride, which in turn leads to thickened secretions throughout the body.'

Secretions?
Though trying to speak in layman's terms, he occasionally drifts into a medical school lecture.

‘These thicker secretions can make digestion tricky because the body's normal enzymes, tasked with breaking down food, generally can't get through. So Aidan will need to eat extra calories, particularly fat, to make up for what he loses. And take enzyme supplements whenever he eats anything with fat in it.'

‘How long will he need enzymes?' I ask.

‘For the rest of his life.'

For my fragile five-week-old baby, born seven weeks premature (who's technically still negative-two weeks old) this is a long time.
Focus. Focus on what he's saying
. When I let my mind wander, the terror begins to press in on my throat, like strong hands tightening their grip, obstructing my breathing. I notice that I'm grinding my teeth in an effort to concentrate on each piece of information. I don't want to be in this room, having this conversation, watching our lives tipped upside down by these people and their unwelcome news.

The doctor is a tall, imposing man, beginning to grey in the temples. He leans forward, bringing his face close to the couch where Darryl and I are sitting, Aidan nestled up like a football in the crook of my arm, sleeping. He is polite, his words considered, maintaining an impassive detachment. Clearly he has given this talk before, forced to tell other parents this very same news.

The explanation turns a corner here from the digestive tract to the lungs.

‘However, the thick mucus is very problematic in the lungs, leading to repeated infections and permanent damage …' his voice meanders away, disappearing somewhere into his collar as he glances down. This is obviously his least favourite piece of the talk. I am uncomfortable for him, worrying how hard it must be to give this spiel.

What am I thinking? Hard for him? My therapist, if I had one—it's clearly time to find one—would probably call that misplaced empathy. Tonight our doctor will head to his house to relax on his deck with a cold Corona, while we'll be driving home to begin sharing our lives with a chronic illness.

What the respiratory specialist doesn't say, exactly, is that this damage can lead to broken-down lungs by early adulthood. Some people are given a reprieve through transplant but others aren't so lucky. He also doesn't mention that as recently as the 1960s people with cystic fibrosis (CF) were only living to be about four years old. Or that the current life expectancy in 1996, though much improved, is still only about thirty-two.

Sensing an awkward lull in the conversation, the geneticist takes over.

‘The exact gene was identified in 1989. The team who located the gene was in Toronto, in Canada … It was a phenomenal breakthrough for both genetics and CF.' She explains that finding the gene specifically responsible had swung the door wide open for a genetic cure. It sparked an eruption of joy and optimism within the CF community worldwide. And, in fact, some big advances towards a cure came initially. Within a year of the discovery, scientists had managed to repair the faulty gene, at least in the lab. Unfortunately, the next stage in the process, which requires getting the good copies of the gene into the lungs, has turned out to be much more complex than originally thought.

The idea is that one day affected people will be able to inhale doses of the normal gene into their lungs in the time it takes to smoke a cigarette. Since lung cells regenerate about once a month, this would only need to be repeated monthly. But the problem is that genes need to hitch a ride into the lungs on something like a virus, a safe one, to carry it into the heart of each cell. Finding the right virus has turned out to be exceptionally tricky. While the cure is still likely to come one day, the medical community, the geneticist tells us, has become more sober in their predictions of the timeframe.

I stumble out of the initial appointment, dazed. Darryl is holding Aidan and I am hugging a mountain of information, contact numbers for the physiotherapist (to teach us the daily chest physiotherapy we will need to do), a return appointment with the doctor for the following week and scripts to be filled that day. After Darryl goes back to work and we return home, my parents offer to find a pharmacy and sort out the scripts. I can tell they need time on their own to soak up the news, manage their sadness, and learn how to respond to ours. Several hours later they walk back in with a small shopping bag full of medications. My mom pulls out a bottle of enzymes about the size of a family jar of peanut butter.

‘That ought to last us until Christmas,' I joke. ‘Why did he prescribe such a big bottle?'

‘It looks like Aidan may be taking quite a few of these each day, depending on how much he eats,' my mom responds. ‘The pharmacist thought this supply might last a month.'

The thought of him taking hundreds of pills in just thirty days turns my stomach. I am tempted to march back to the pharmacy and say ‘No, thanks. These aren't for my son. Wrong person. Wrong, wrong, wrong.' As though refusing to accept reality might somehow change it.

‘He said you'll need to open each capsule, mix it with a spoonful of applesauce and feed that to Aidan before each meal.'

‘Did he realise our son's only five weeks old? Can we give solid food to a baby that age?'

Early that evening Kevin arrives at our house with a load of relevant medical papers and journal articles he has printed out from the internet. He and Darryl sit at the kitchen counter pouring over the material, talking and even joking, as though they're working on the morning crossword. Their frivolity is inconceivable to me with darkness dropping like a curtain, blotting out the light which existed just yesterday. The laughter grates against my throbbing pain, isolating me from Darryl and his seeming indifference.

A few days later my parents head back to California, where my sister has just given birth to a four-kilo, full-term baby boy: Aidan's new cousin. They leave us hesitantly, regretfully, knowing the serious work and adjustment we have ahead of us. Though it has been such a lift having them around, the truth is we need to face the future on our own.

***

The next few weeks are a challenge. One of the hardest parts of my new routine is learning how to do chest physiotherapy on a baby whose chest is about the size of my Visa card. In fact, after taking one look at Aidan's bony little torso the hospital physiotherapist said, ‘Uh, yeah, so maybe you should start off just tapping his chest with two fingers until he gets a bit bigger.' Respiratory physio, in New Zealand at the time anyway, involves clapping firmly against the chest with the palm of the hand cupped. The aim is to dislodge any plugs of mucus in the airways and keep them clear. My little finger tapping on Aidan's chest twice a day for twenty minutes seems totally ineffective; however, the screaming that accompanies it—from a baby who doesn't want to be pinned to his mother's knee and ‘clapped'—probably does the trick on clearing out those lungs.

Apart from the difficulty of the physio routine, the mornings in my new life are the worst. Darryl scoots off to work while I creep out of bed to survey the damage: stray enzyme capsules, emptied of their contents, and little jars of applesauce lay scattered around the house like discarded beer cans and cigarette butts the morning after. They are evidence of messy middle-of-the-night feeds and futile efforts to get the miniature medicine beads to the target. Now I know why newborns aren't fed solid food: their puny little mouths only open a crack and close almost instantly. It's like spoon-feeding a goldfish. ‘Got it in!' ‘Drat, I missed,' I yell to an empty house, while balancing a kitten-sized infant on my knees. Combined with the paraphernalia of nappies, dribble-splattered bibs and soiled outfits, the house looks like it has been ransacked.

But the emotional ransacking is worse than the state of our house. Suddenly, unexpectedly, here I am enrolled in the crash-course in genetics and clinical medicine that I skipped at university. It turns out that we are facing the most common life-shortening genetic condition among Caucasians. About one person in twenty-five carries the gene, most without knowing it. It's recessive, which means for Aidan to have the condition both of us had to pass on our affected gene rather than the normal one; we have one of each. For us there's a one-in-four chance in every pregnancy that our baby will have CF. From a statistical perspective, I guess we have been unlucky.

Genes are the invisible blueprint of who we are and what our kids will be. While pregnant we speculate: ‘Will the baby have my mouth or my husband's nose?' ‘Will she have a knack for art or have plenty of fast-twitch fibre and be a sprinter?' We think of all the possibilities. While pregnant with Aidan I remember wondering whether Darryl, who stares vacantly at the alarm clock every morning before asking me ‘What time is it, honey?', would pass on his poor eyesight to our baby. I hoped that my family tendency for low cholesterol and good metabolism might somehow squeeze through the gene machine. But now I would commit my child to a lifetime of bottle-thick glasses and high cholesterol in a flash if I could re-sort his genes.

***

Several weeks after Aidan's diagnosis Darryl's mum, Raewyn, and sister, Sharon, drive down from Auckland for a brief visit. Like my mom and dad, they pitch in, helping with nappies, cooking meals, holding Aidan and holding us. One afternoon, we sit around the living room, nursing cups of tea. Eventually the conversation comes around to health.

‘He's a lovely little guy, so content. Once you get a bit more weight on him, he'll be fine,' says Raewyn, the tireless optimist.

‘Yeah, well that's what we're hoping. He seems pretty much like a normal baby apart from his weight. Of course, it's hard to know what the future will be like …' Darryl's words fade away.

Sharon pipes up. ‘Maybe Aidan will be good at computers or something like that when he gets older, rather than being sporty.'

Her words sting, sharp and unexpected in their trajectory. My neck muscles tighten as I clench my fists. ‘No.' My breath barely gives voice to the word, but it's clear in my mind. I'm not willing to imagine my beautiful boy unable to enjoy sports or an active life because of lungs that can't keep up. Sharon means to encourage us, to paint a picture we can live with, but for me this only highlights a potential future that I'm unable to accept. We have been told to expect a decline of three per cent in lung function per year. That's a lot to lose by the age of ten.

By the end of the first month at home, his second month in the world, things are not going in a good direction. Aidan's bottom is sore, raw and bleeding because he's not properly digesting his food and the enzymes are travelling through his system and burning him on the way out the door. He's in agony. And he still hasn't returned to his puny birth weight. His face is gaunt, skin hanging off his cheekbones, legs like chicken wings, meatless. Our baby is starving.

I phone the doctor.

‘Look, we're going crazy trying to get these enzymes and breast milk into Aidan. It's just not working. His diarrhoea is terrible and constant. We don't know what to do anymore, but we have to do something for him.'

I sound like the fraught, worried mother I'm becoming, and swore I would never be. But this is no time for hiding my concern. I'm desperate.

‘Pack a bag and bring him in to the hospital. I'll do the paperwork to admit him this afternoon,' the doctor answers without hesitation.

By the end of a week-long admission, remarkably, Aidan has added nearly fifty per cent to his body weight. Just as exciting for us is the appearance of his first-ever solid poo; Darryl and I consider framing the dainty little log as we were beginning to wonder if his digestive system would ever get its act together. Though hardly chubby, he looks a lot better after a week on a foul-smelling but effective ‘partially digested formula'. I briefly ponder the question of who digested it the first time, but I would feed him horse food right now if it helped put on kilos.