Louise tiptoed down the stairs, hoping that by avoiding the squeaky step, she might also avoid waking Pete, sleeping in the spare room. They couldn’t bear to be near each other now. She didn’t have time for another fruitless argument this morning, not if she was going to make it to the conference centre in Birmingham on time. Since accepting the job last week, she’d been out of the house every day and, given Pete’s current attitude, that was something of a relief.
She had been full of trepidation on her first morning at work, worried she’d be viewed as a dinosaur, she’d been out of the workplace for so long. However, Professor Larssen was an incredibly loyal employer, and most of his team had been working with him for two decades, so everyone had been welcoming, respectful, even. Her colleagues respected the knowledge she had about Rett and had asked her advice on all sorts of aspects of the trial. They were cracking on with the recruitment for it now and she was an important part of the process, communicating with parents and discussing their concerns.
Being consulted, being respected, being valued: she realised now that she had wanted a job not just for the money, but also for the recognition that came with it. She had forgotten how good it felt to be valued as an individual. She had been dismissed as only ‘Patience’s mother’ for far too long. Motherhood was an extraordinary privilege, she knew that, but she also felt that mothering a disabled adult was like wearing an invisibility cloak. Your herculean efforts went entirely unnoticed by society. In this job, however, she was actually being seen.
There were some really impressive women on the professor’s team, she had discovered; some really successful women, and she had found their different paths both fascinating and inspiring. The most prominent of these was the professor’s wife, Magda. She was a scientist – a geneticist – originally from Hungary. She had brought up two children while learning a new language and forging her own career. She was as chaotic as her husband, but she had a brilliant mind, a sparkle in her eye and a laugh like a hyena. Louise had warmed to her immediately. She hadn’t laughed so much in the past year as she had done in the past week.
There wasn’t much laughter at home, though. The hideous mix of angry silence and flaming rows that had defined Pete’s home leave had been exhausting. She had started leaving early every morning to avoid seeing him at breakfast, leaving him to wake Patience and deal with the carers all day. Having him at home had at least meant that she could deputise that responsibility for a short while.
Today was leaving day, however. When he’d gone, she’d be entirely in charge of Patience once more, and that would be some juggling act, mixing caring duties with her new job. But on the bright side, she’d be able to reclaim the house for herself. Over the past few months, his intermittent home visits, previously eagerly anticipated, had actually begun to feel like an imposition.
She couldn’t put her finger on what exactly had changed, but something definitely had. She felt she couldn’t be herself with him around, couldn’t relax. He hovered over her while she ate, and she even felt guilty pouring herself a drink in the evening to take the edge off a stressful day. It felt like he was watching her constantly, looking for things to criticise. And everything he’d done this week had driven her to distraction: his insistence on recognition for any housework he’d done; his piecemeal efforts to fix the house’s many problems; his dogged determination to try to change her mind over the gene therapy trial.
This trial had unearthed something long-buried between them, something ugly. Despite her anger, she had privately tried to see it from his point of view. In truth, she had struggled to sleep in recent days, Pete’s words dominating her thoughts and refusing to let her rest. She had never really disagreed so vehemently with him before, and this upset her deeply.
She stopped at the bottom of the stairs and looked in on Patience. She was sleeping soundly now, after a difficult night. Patience had woken her up at about 1 a.m., crying out in pain. She had come downstairs and found Patience’s arm out of its sling and wedged up against the wall. Her collarbone was still healing, and she knew that it must still hurt. She’d given her a suppository of paracetamol and sat with Patience in the dark, stroking her hair until she’d fallen asleep.
Louise felt utterly determined to give Patience the chance of a different life. She wanted to rid her of this pain, this silent torture. The professor had taken her through every risk the trial posed, had answered every question she had with understanding and concern. The list of possible side effects Pete had seen was alarming, she knew that, but it was also unlikely that any would occur and, in her view, the possible gain was so extraordinary, so mind-blowing, that it was worth the risk.
Louise crept into the kitchen and filled up the kettle. So far, so good. There was no sign of Pete. While she waited for it to boil, she grabbed a piece of paper from a notepad on the side and wrote him a message, wishing him a safe flight. She was furious with him, no question, but she still loved him. She could hardly let him leave without a goodbye of some sort.
And then the back door slammed.
‘Ah, Lou,’ said Pete, reaching down to unclip Tess from her lead, ‘I hoped I’d catch you.’
‘Unlike you to walk the dog so early,’ she said, still facing away from him. She crumpled up the note in her hand, chucked it in the bin under the sink and then turned on the hot tap, to begin the washing-up, all without turning around to acknowledge her husband.
‘I couldn’t sleep and she looked desperate when I came down. Also, I needed the fresh air.’
Louise busied herself rinsing and scrubbing and did not respond.
‘Lou. Please. Stop doing that. Look at me.’
Louise noticed that one of the mugs had coffee residue almost welded to its bottom. It must have been drying out in the sink for several days, she thought. She squeezed washing-up liquid into it and brushed it with vigour.
‘Lou. I’m going today. Please.’
She took a deep breath and turned around, still holding the mug and the brush.
‘I know,’ she said, still brushing.
‘I don’t want us to part on bad terms. I won’t be back for a month.’
‘Yes,’ she said.
Pete took two steps forward, so that he was just a few inches away from Louise.
‘Lou, we won’t get anywhere if we don’t talk about things. I really don’t understand why you won’t. Things haven’t always been like this. We used to discuss things, remember?’
Louise still did not put the mug down.
‘Look, Lou, I want to understand why you feel like this. Why you’re so determined to go ahead with the gene therapy, even when I don’t want you to. I want you to explain. Can you try?’
Louise stopped scrubbing the mug.
‘I have tried. But it makes no difference.’
‘You haven’t tried, Lou, you just keep on telling me that it’s the right thing for Patience and that I’m being an idiot for thinking otherwise.’
Louise checked her watch. She needed to leave in fifteen minutes. This would at least have to be quick.
‘Well, that’s because it is the right thing to do, Pete. And I simply don’t understand why you don’t see that.’
Pete moved around Louise and began to make tea, reaching into the cupboard for two clean mugs. ‘But Patience is mostly well, Lou, she’s stable, happy, we have funding for carers to look after her at home, it’s the status quo we hoped for. I don’t get why you feel things have got so bad.’
Louise turned around again and waged war on the washing-up once more.
‘I think that’s because you don’t want to see,’ she said to a soundtrack of clinking crockery. ‘When I went to see her in the hospital after that fall, she looked… blank. Absent. And I catch her looking like that often now, even at home. I think maybe she’s in pain a lot, Pete, and we aren’t helping her because we don’t know where it is. What if that’s her future? You know, a slow but hideous slide downwards into constant pain? This gene therapy, it could give her the ability to tell us how she’s feeling, couldn’t it? That would be amazing. It would change everything for her – and for us. No more guesswork. And you know, maybe she wouldn’t need as much care? She could be more independent. The relentless round of social workers, doctors and physiotherapists and sleepless nights, that could end, too.’
‘It sounds to me, Lou, like this is more about you than it is about Patience.’
‘How dare you!’ said Louise, relinquishing the washing-up and turning towards Pete, who was now getting milk out of the fridge and pouring it into the mugs of steaming tea. ‘How dare you suggest that I’m being selfish. I haven’t had time to think about myself for decades.’
‘Lou, I’m not saying that. I’m sorry. You know I didn’t mean that.’ Pete took the teabags out of the tea and dropped them in the bin. He presented one of the mugs to Louise, who took it, muttering an automatic thank you. She checked her watch once more.
‘You’re not listening to me properly,’ said Louise. ‘My interest in this trial is about Patience alone. You and I both know how hard caring for her is – but it’s a labour of love. Everything I do is for her. And I’d do it all again if I had to.’
Pete nodded, looking not at Louise, but at the steam rising on his tea.
‘Anyway, I’ve got to go in a few minutes,’ she said. ‘We’re holding the information session for the parents of prospective trial participants today. Perhaps you should come,’ she added, glaring at him. ‘You might learn something.’
‘I’ve read the literature, Lou,’ said Pete, his tone suggesting he was determined not to rise to the bait. ‘So I know the facts. And that’s what bothers me. There are too many risks.’
‘They are risks that are being mitigated. They will be incredibly careful. No expense is being spared. They will be monitored intensively. The professor—’
‘Yes, I know you think the sun shines out of his arse!’
‘The professor would not be doing this if he didn’t feel it would bring about a great result.’
‘He would say that, Lou, wouldn’t he? He needs bodies for his trial. So just stop and think for a moment. Patience is content, happy at home, being cared for by others, you aren’t having to do most of the heavy lifting. What is so wrong with things as they are? Why are you willing to risk so much for this tiny chance of a change that, frankly, seems pretty petrifying to me?’
‘Why so petrifying?’ asked Louise, cradling her tea.
‘Just think. She’s an innocent, is Patience, isn’t she? She’s one of the world’s most wonderful, innocent souls. She doesn’t have a dicky bird what’s going on around her, and that’s a good thing. And if this experiment works – if – you are potentially giving a severely disabled body a brain which absolutely doesn’t match it. Imagine how frightened she’d be. She’d be a prisoner in her own body. It’s disturbing, Lou. I can’t sleep for thinking about it.’
Louise thought about the baby she had held, in those days before the regression had robbed her brain of its potential. She remembered the light she’d seen in Patience’s eyes, the intelligence, the promise. Her intense determination to sit up, to grasp toys, to mount her trike and push herself along. They had video of her doing that, of her laughing as she traversed their patio, her hair billowing behind her, her smile conveying the joy she clearly felt at finally being able to do something that Eliza could do, too. Louise ached to be back behind that camera, witnessing it. She longed to hear Patience speak again, even if all she ever said was no, the way Eliza had done for one memorable month as a toddler. This trial could return Patience’s stolen future to her. Why on earth couldn’t Pete see that?
Louise checked her watch. She had to go. She put down her tea – she had hardly drunk any of it – and looked at Pete.
‘Well, I can see that we’re not going to agree,’ she replied, finally. ‘But you know how I feel and I’m not going to change my mind. So I’ll talk to the professor about next steps.’
‘There won’t be any, Lou, because she’s simply not going to do it. I won’t give my permission.’
‘I’m told that we won’t need it,’ Louise replied, picking up her handbag from the kitchen table, and doing up her jacket.
‘What?’
‘There are ways of getting round that, I’m told.’
‘You can’t be serious! You’re prepared to go ahead without my approval?’
‘Absolutely. I will do whatever it takes, Pete, for Patience. Now, I must go.’
Louise walked swiftly to the door, with Pete in pursuit.
‘Lou, we have to talk about this. This is serious. Critical. We need to work as a team on this…’
‘It’s too late for that,’ said Louise as she opened her car door and sat in the driving seat. ‘It seems we’re on opposing sides now.’
And as she turned on the ignition and reversed out of the driveway, Louise forced herself not to look at Pete. But as she drove away, her rear-view mirror captured him in the open doorway, staring fixedly at the car until she was out of sight.
*
One by one, they entered the room, some holding hands, others clutching cups of coffee and phones, searching the rows of chairs for faces they recognised. There were hugs between some, who were obviously old friends; looks of suspicion between others. They knew that this was essentially a competition and that some of them would lose.
Louise had made a spreadsheet of their names, their ages, and their addresses, so she knew who they were. But she wasn’t prepared for their faces. The women and men who were making their way through the open double doors into the medium-sized, strip-lit conference room she’d rented for the event, all had expressions of fear, tinged with something unmistakable – hope.
She knew that look well. She’d borne it long ago, back when Patience had been a baby. But it had been wiped right off her face during a regular reunion of her birthing class friends which she’d gone to once – and only once. Louise had watched as five babies born in the same month as Patience bounced up and down on podgy legs, hauled themselves up against the chairs in a local café and babbled joyfully, blissfully unaware of each other and entirely dedicated to their own enjoyment.
Patience had spent the entire event in Louise’s lap, crying. She hadn’t been hungry, or wet, and she hadn’t had wind; she had just cried, angry tears dripping down her cheeks, which were red, the blood under her skin bursting to the surface. Louise had left early, telling the woman next to her that she needed the toilet. She had picked up her coat, strung her bag over her shoulder and walked out of the door of the café with Patience dangling from her hip, never once looking back.
Louise remembered, too, the fierce determination she had felt when driving past the local primary school, the one her mother had spotted when they’d decided to buy the house.
‘It’ll be a nice little walk for you all in the mornings,’ she’d said, doused in glorious innocence.
Louise had willed her youngest daughter to speak properly, to walk properly; convinced that if she believed it enough, Patience would start school there in two years, just like her peers, just like Eliza. She had maintained that hope until her place had been refused, and a row had ensued. Back then, Patience could stand a little bit, could sit cross-legged and listen. But try as she might, the school had stood firm and Patience was given a place at a ‘special’ school, fifteen miles away from home instead. It had been nice enough. It had actually been loving – caring, even. But it was not ‘normal’.
Every morning a minibus had pulled up on the gravel outside their home. Inside there were three other children, each locked, it seemed to her, in their own personal prison – a wheelchair, a chest brace, a body ravaged by oxygen starvation. She’d watch as Patience was loaded among them every morning, a shooting star being sent out into a cold, unbidden galaxy. It depressed her beyond measure. At least Patience was unaware of her reality, though, and that was a comfort.
It was around that time that she had been forced to give up her nursing career for a different kind of work. Patience’s school holidays eventually became an impossible gap to cover. The paltry offering from social services of a carer to help put her to bed nightly was not enough and the constant changing of staff in what was a low-paid, stressful job meant they had usually only just taught someone how to look after Patience before they left for a more rewarding role elsewhere. The crunch point came when Louise had got back from picking up Eliza from a friend’s house to find their latest visiting carer, Jean, smoking in their conservatory while Patience slept in a soiled nappy in front of EastEnders.
Just after she had given up work, a social worker had come to visit. She’d seemed relieved to hear that Louise planned to be around more. She had gone through the care package they’d been offered – a carer every morning and evening, to do the dressing, feeding and undressing – and confirmed that that was all they could expect at that point. ‘Unless, that is,’ the woman had said, with a steely look in her eye, ‘you decide you can’t cope.’
Louise knew a mum who couldn’t cope. She’d met her through a local support group for families with disabled children. She had always been so well turned out; painted nails, glossy hair, clothes spotless and ironed. And yet she had apparently cracked one day and walked out of her house, leaving her disabled son sitting inside alone in front of the TV. She’d called social services before she left and told them to come to pick him up.
He had been taken to a residential school and Louise had visited it with her once. It had been built on a brown-field site within a stone’s throw of the M5. The windows were triple-glazed and its outside space amounted to a tiny courtyard overlooking a supermarket warehouse. She had hated it from the minute she’d parked the car outside, had to wipe tears away from her cheeks before anyone else could see. She had resolved then that she would never send Patience away. She was their child, and she belonged at home. All sacrifices were worth making to make this her continued reality.
And so, while her peers were all packing their bags and heading off to university without a second glance at their childhood bedrooms, Patience spent most of her days embedded in a special armchair in her childhood playroom, watching repeats of The Muppets. The entire family had become inextricably locked into her never-ending childhood. And despite the fact that she lived in Neverland, she was forced to leave her special school at nineteen. The family found themselves thrown into a hinterland of ‘adult provision’, discovering that there was neither the money in the system – nor the inclination – to make the days of disabled adults worth living.
It had been a time of great cruelty. As Patience’s youthful good looks faded, so did her appeal to almost everyone around her, even her own grandparents, and Louise’s friends. She was no longer a cute, blonde angel. Her face could no longer launch fundraisers or inspire charitable acts. She became invisible, and so, by proxy, did they.
But unlike the parents of her generation, who were all led to believe that their Rett children would die before they reached this ghost-like adulthood, these parents, gathering in this anonymous conference centre out by the ring road, shuffling along rows of grey stackable chairs, had good reason to expect their disabled children to live almost as long as them. And crucially, they knew what they were dealing with. Patience had been given a diagnosis based on a list of symptoms; the children of these families had been diagnosed using genetic testing.
These families knew, absolutely, which gene fault had waged war on their daughters’ – and in a few rare cases, their sons’ – brains. And because of Louise’s new employer, they were now being presented with the tantalising prospect of fighting back. They were being offered hope, and Louise knew how powerful that was.
Having hope bludgeoned out of you was a body blow. It was an experience that she had never fully recovered from. She remembered exactly where she had been, and how she’d felt, when it had happened.
It had been a stifling, muggy day in the long, hot summer of 1992…
*
Louise had opened the window to try to usher some fresh air into the car. Instead, however, she had ended up inhaling the exhaust fumes of the double decker bus waiting at the lights in front of them. She’d rolled the window back up and looked in desperation at Pete, hoping that he could somehow find a shortcut to escape the traffic. He’d reacted with a sudden swing to the left and embarked on a series of detours down narrow residential streets flanked by closely spaced parked cars.
Finally, after a close shave with a moped and several shocked pedestrians, and at least two arguments in which one or both of them had threatened to get out and walk, the family arrived at their destination – the Royal Children’s Hospital. Patience’s initial appointment there hadn’t yielded a diagnosis, so she had been invited back for a whole week of tests.
Pete pulled up directly outside the hospital entrance and unloaded Patience’s wheelchair as taxis beeped and pedestrians weaved their way around it. It was her first wheelchair, bigger and more unwieldy than her old toddler buggy, and they were still getting used to it. It had to be stuffed into the back of their elderly Volvo estate, the boot only just closing over it. Louise stood on the pavement watching Pete struggle to unfold it, smelling the carbon in the air and absorbing the city’s constant hum. The hospital entrance loomed large behind her. More bloody hospitals, she thought; it had better be worth it this time. Would the very best knowledge this city could provide be enough for Patience? Someone must know what was wrong with her, surely.
The chair finally unfolded, Pete bent over, reached into the back of the car and let out a deep grunt as he lifted Patience out. She was getting heavier and she showed no signs of wanting to bear weight or use her arms for anything other than wringing. The twisting motion required to move her in and out of the car was beginning to take its toll on them both.
Pete signalled that he was now ready for Louise to take over. She busied herself securing Patience in the chair, while he reached into the glove compartment for the orange disabled parking badge; another new, unwelcome but vital addition to their lives.
They had a routine now, a caring routine that neither of them had spoken of, but both understood. Speaking about it would make it all too real, too permanent, she thought. She preferred the silence.
Pete carried their bags, one slung over each arm, as she pushed Patience in the direction of the entrance hall and then into a large service lift to the second floor. Once there, they located Butterfly ward. All of the wards had names drawn from the beauty of nature, a stark contrast to the network of concrete corridors and brash metal reality of hospital life.
The ward sister took them to Patience’s allotted bed. It was Pete who noticed that there wasn’t anywhere for Louise to sleep; hospitals didn’t usually offer accommodation for families back then. The utilitarian hospital bed, surrounded by optional curtains, had a small lockable cabinet next to it and a plastic, upright chair resting against the wall. Pete asked the orderly who had been making the bed next door where his wife should sleep and she had shaken her head solemnly, both acknowledging the problem and dismissing their query in one fell swoop.
Despite Patience’s young age, there was clearly an assumption that parents would and should leave their children alone at night and find somewhere else to rest. Louise decided in an instant that she would challenge that assumption, and it seemed that she wasn’t the only one. When she reached the nurse’s station, she found another woman arguing with the ward sister about her own sleeping arrangements.
The woman, with her vibrant red hair, stilettos, long drop earrings and red lipstick, looked like she should be heading out for the night, not preparing to bed down in a hospital. However, she was also cradling a little boy in her arms, rocking him fiercely.
‘Now you listen to me. Just listen,’ she said, in a rich Yorkshire accent. ‘I’m not going to the bloody cheap hotel down the road. I’ve never spent a night away from Patrick, and I am not going to start now. He’s very ill, or else he wouldn’t bloody be here, would he? And I’m going to be here for him, whether you make me lie down on the lino beside his bed, or whether you manage to rustle me up another blanket.’
Louise instinctively placed a hand on the woman’s shoulder. She’d never done something like that before and probably would never be brave enough to do so again, but her instincts were strong.
‘Excuse me, sorry, I don’t mean to interrupt,’ she said. ‘I just wanted to show that I agree with you. I’m not leaving my daughter either.’
Both women glared at the sister, oozing defiance. There was a short silence, punctuated only by the cries of children down the hall and the rattle of the tea trolley.
‘The reason why we suggest you stay elsewhere is because we haven’t anywhere comfortable,’ said the ward sister, her tone reflecting her resignation. ‘Space is at a premium here. But if you don’t mind roughing it a bit, we do probably have a room you can use.’
She led the two women away down a long side corridor and opened a door into what looked like a meeting room. A large walnut effect table and chairs was placed in the middle, ringed with institutional style waiting room chairs. There were two large sash windows which overlooked an internal courtyard. It stank of cigarettes, had a bare bulb hanging from the ceiling, and was missing at least one set of curtains.
‘You’ll see why we don’t advertise this as accommodation,’ she said, looking at them, her eyes alight with challenge. Her gaze then fell on the little boy, who was now asleep on his mother’s shoulder. ‘But I do understand why you want to stay,’ she said, softening. ‘I have a little one too. Look, I’ll go and get whatever I can find to make your stay a bit more comfy. What do you need? Sheets? Pillows?’ Louise, still a nurse at heart and at home in a hospital environment, resurrected her workplace efficiency and sprang into action.
‘Yes, please. Definitely sheets, pillows, blankets. And do you have any tape? Drawing pins?’
The ward sister nodded and left.
‘I’m Serena,’ the woman in the stilettos said. ‘And thanks for that. I was about to crumple.’
‘You didn’t look or sound like that to me. You sounded bloody fierce,’ replied Louise. ‘Even I was scared.’
Serena smiled at that; but it was only a half-smile, with deep pain clearly loitering just beneath the surface. Louise studied the other woman closely. In those moments before, she had seemed such a powerhouse, such a visible source of energy, but she now appeared broken. Her immaculately applied eye make-up was smudged. A small tear was creeping slowly down her cheek. Louise decided that it might be best to ignore it.
‘Come on, let’s make this place acceptable,’ she said. ‘I know it’s a bit like polishing a turd, but never mind. Let’s polish it anyway.’
Serena sniffed. ‘Yes, let’s. Thanks.’
‘Oh, come on, it’s nothing. You were the one who fought the fearsome sister,’ said Louise.
‘But you were the one who didn’t cry.’
They smiled at each other, and were still doing so when the sister returned with sheets, blankets, pillows and drawing pins.
‘Here you are, ladies. Hope you have a reasonable night. There are showers down the corridor to the right, the staff use them. Is there anything else?’
Serena had recovered her composure. ‘No, I don’t think so, but we’ll let you know. Thanks.’
The ward sister nodded and left. Serena spun round to Louise and smiled. ‘Now, why the drawing pins?’
‘Ah,’ answered Louise. ‘Old student nurse trick. We’ll pin the sheet to the window to create a curtain. I’m buggered if the secretaries who work opposite are going to get an eyeful of my boobs in the morning.’
*
Their week in hospital had been a seemingly endless cycle of discussions with consultants; blood tests, brain scans, X-rays and ultrasounds. It felt to Louise as if they’d seen every doctor in the hospital. She’d also slept fitfully, not due to her unusual sleeping arrangements – she and Serena had eventually managed to borrow some mattresses and had made a reasonably comfortable den for themselves – but due to the regular wake-ups from nurses who wanted one of them to come to see their children, who were distressed by their surroundings, and light sleepers to boot.
This whole experience had only really been bearable because of Serena, she thought, as she packed up her belongings ready for the long journey back home. Poor Serena – you wait years for a diagnosis for your child, and then when you get one, it’s the one you most fear.
‘How do I look?’
Serena spun around to face Louise, after a lengthy spell spent in front of the mirror they’d erected on top of a filing cabinet. She’d done a reasonable job, but no make-up could mask her swollen, bloodshot eyes.
‘You look lovely,’ replied Louise, not missing a beat. Serena needed all the encouragement she could get. ‘Do you really have to go now?’ she asked.
‘Yes. Alec will be here in a few minutes. He’s taken the day off to come to get us. And it’s not like the doctors can do any more, is it?’
Louise saw that a tear was forming once more in her left eye, and that her right eye was set to follow.
‘Oh, Serena!’
Her new friend reached into her pocket for a tissue, and blew her nose.
‘I’m OK. I knew that it would be this, to be honest. I just knew it. I kept telling our GPs that something wasn’t right, that it was more than him just having dodgy balance, or laziness, or whatever. I knew it.’
Serena’s son, Patrick, it turned out, had Duchenne Muscular Dystrophy. He was four years old and Louise knew that a diagnosis of Duchenne meant an early death.
‘I know. But you’ve still had a huge shock, even if you expected it.’
Serena nodded and picked up her bag. Louise hugged her.
‘Write to me, OK? And call me. You’ve got my number.’
‘I will. I promise. And good luck with the seminar today.’
*
The end of their stay loomed, and still they had no diagnosis. The only thing left to do was to attend the hospital’s weekly seminar for unsolved cases. They actually called it something far more erudite, but essentially it was for no-hopers, Louise thought. Abandon hope all ye who enter here. If all of the UK’s medical might hadn’t found Patience a disease to call her own, she doubted whether a group of old white men scratching their heads together would have any more luck. But still, they’d been kind enough to spend all of this money and time investigating Patience’s case, so it was only fair that she played along, she thought. It couldn’t hurt.
Following the ward sister’s instructions, Louise pushed Patience in her wheelchair down a dimly lit corridor in the basement. She found the room number that had been written down for her and pushed the door open to reveal a large lecture theatre. There wasn’t room for the buggy inside, so she parked it in the corridor and lifted Patience out and rested her on her hip. Barely more than a toddler, it was still possible for her to do this, but she knew from the twinges in her back that their days walking around like this were numbered. As she made her way back in, a junior medic spotted her and gesticulated towards a free seat at the back, so she headed in that direction and grabbed it, sitting down with Patience on her lap.
A portly man in his early sixties made his way to the podium. As her eyes adjusted to the low lighting, Louise realised there were about twenty people seated in the first few rows and a few other relatives and carers were dotted around the room further back. The man didn’t introduce himself. He probably reckoned he was too important to need an introduction, she thought. Instead, he simply began to read from a pile of notes on the lectern.
The first case, he said, was about child A, who’d been referred due to an awkward gait, and bones which were not growing normally. The child had been tested for everything they could think of, but to no avail. Her problems continued. Did anyone have anything to suggest?
A quietly spoken, grey-haired woman in the front row suggested something Louise couldn’t quite hear; there was some nodding among the pack and a brief discussion ensued. When they were finished, the speaker summed up the case and announced that they had decided to refer her case notes to a clinic in Edinburgh that had recently reported a similar case. Passing the buck, thought Louise. Always passing the buck.
The man referred once more to his list. He sounded bored. ‘Next, we have child B, a three-year-old girl who appeared to be developing normally at her one-year check, and who went on to gain some skills before regressing. Repetitive hand movements are present and she has no speech. Her gait is awkward, she has a slightly smaller head than average and she can’t walk independently. We’ve put her through all the usual tests – MRIs, blood tests, etc, and we’ve found nothing. Anyone got anything?’
Louise heard a shuffling of papers, and a voice, a male voice, began to talk.
‘I’ve been thinking a lot about this one,’ he said. ‘I realised after I met her that I’d heard of something similar before, at a conference I went to last month in Austria. A paediatrician called Andreas Rett gave a speech talking about girls who’d been attending his clinic who all had similar features – repetitive hand movements and the regression, mostly – and I wonder whether this might be the same thing. I’ve looked it up though, and there haven’t been any cases identified in the UK yet.’
Louise could almost hear her heart thrashing away in her chest.
The man on the stage chuckled. ‘Oh, Giles, always trying to make a name for yourself! You’ve always got to be the first, haven’t you?’
Louise felt a wave of rage take hold of her. ‘Stop laughing, please!’ she shouted, her voice hoarse. ‘Please stop.’
The group fell silent as she spoke from the gloom at the back of the auditorium. ‘You are the first person who’s suggested anything that sounds remotely like what Patience has. Please, please tell me more.’
*
Later that day, in that doctor’s cramped office lined with medical textbooks, after a cup of lukewarm, milky tea, they had finally been given a name for it. Rett syndrome, named after the Austrian paediatrician who’d first recognised it as a disorder.
When Giles Rivers, a senior consultant with twenty-five years of experience in paediatrics, had given Patience’s ‘trouble’ a name, it had echoed against the walls of his office and ricocheted in Louise’s ears. Pete, who’d made the journey to the hospital after a rushed phone call from Louise that morning, was struck dumb, staring blankly at his wife, willing her to say something.
Back then, the name had meant nothing to either of them. Dr Rivers told them that it meant nothing to most doctors, too; it had only been recognised relatively recently. Patience was to have the dubious honour of being one of the first children in the country to be diagnosed with it. Louise then asked the question that she had been suppressing for months. Years.
‘Will she die?’
Dr Rivers had paused for a moment as he formulated his answer.
‘I don’t really have any answers for you,’ he said, looking somewhere over their shoulders, into the distance. ‘Except, that is, to say that the oldest girl Professor Rett has seen – it seems to only affect girls – was in her thirties. Many don’t get that far I’m afraid.’ He paused, removing his glasses and rubbing them on his handkerchief to clean off a smudge. ‘Looking at the evidence we have, I think it’s unlikely Patience will walk. It’s also extremely unlikely she’ll ever be able to speak.’ Then he paused and took a sip from his teacup. ‘I’m very sorry.’
‘But she did speak, for a bit. A few words… but that stopped,’ Louise replied, hoping that perhaps this nugget of information would somehow persuade the doctor to change his diagnosis.
‘Yes, that’s quite common, from what I’ve read. The girls regress. They learn things, and then they lose those skills. It’s… very cruel, like that.’
‘Does she know what I’m saying to her? Does she understand?’
‘It’s not thought that most girls with Rett syndrome develop mentally much beyond their very early years, Mrs Willow,’ he said. ‘So her level of understanding now is likely to remain constant throughout her life. She will probably always have the mental age of a toddler.’
‘Why is she… like this? What made her this way?’ asked Pete, voicing his own personal, long-considered, burning question.
‘We don’t know what causes it,’ the doctor answered, looking directly at him and avoiding Louise’s gaze. ‘We assume it’s a genetic fault, rather than brain damage from birth or whatever, but at this stage, we’re really in the dark.’
He’s trying to tell me it’s not my fault, Louise thought. But I feel like it is, and it could be. I had a few drinks whilst I was pregnant, the odd cigarette. Didn’t I once fall over in the car park at work when I was eight months gone? Or what if I caught something from a patient? It could be my fault she’s like this, she thought.
Then the appointment was over. Every anxiety, every tear, every sleepless night had built up to this and it was over in less than twenty minutes. Dr Rivers had booked them in for a follow-up appointment in six months’ time and suggested they seek out physiotherapy for Patience. And that was it. They were dismissed.
‘Take her home and make her life as comfortable as possible,’ he’d said, as they got up to leave. Louise realised how similar his advice sounded to that meted out to the relatives of elderly patients on the geriatric ward she’d worked on during her training.
Pete had taken Louise’s hand then and they had left the office swiftly, collecting Patience from the ward and making their way to their car. Their conversation for the long drive home was sparse; perfunctory. Neither of them knew what to say. They were both living out their own personal horror, and they needed time to process it individually. Louise had looked across at her husband several times during the journey and had seen Pete’s teeth grinding, a clear sign that he was under stress. In her, the emotional trauma manifested itself in nausea and a thumping headache that no painkiller could touch.
When they arrived home, he had gone upstairs to their bedroom and shut the door; Louise knew better than to follow. She went to put the kettle on, partly because she was thirsty and hoped it might help clear her head, partly to mask the sound of muffled sobs coming from above…
*
Back in the present, in a room full of parents who had probably gone through many of the same emotions and experiences, the atmosphere was tangible.
Professor Larssen had asked Louise to organise the meeting in Birmingham so that all of the parents hoping to enter their Rett children into phase one of the trial could find out what it was about. They’d had an overwhelming response to their adverts on social media asking for participants and today was about whittling them down to those who were really committed.
She knew, because she’d seen all of their addresses, that several of the parents had driven more than four hours to be at the seminar. One pair had even got a flight. She also knew, as a fellow carer, about the hoops they’d have had to jump through just to leave the house. You needed to find someone you really trusted and who was trained properly; these people were expensive and rare. But these families knew that this was a meeting that could change their child’s life forever so it was worth paying through the nose for.
When the room was full, Louise nodded to the professor, who she had now learned to call Philip. He walked up to the podium to begin and she dimmed the lights for him, then took a seat at the back to watch.
‘Good evening, ladies and gentlemen,’ he began, ‘and welcome to Birmingham. I know some of you have travelled very far, so we will try to keep this as short as possible. There will be time for questions at the end. I’m going to start with a brief presentation.’ The professor hit a button on his laptop, triggering a video, recently released by an American charity which was raising money for the research.
On screen was a little girl with the face of an angel, crowned with blonde curls. She sat centre screen, perched on her mother’s lap. If you took a brief glance at her, you wouldn’t know there was anything wrong; but if you looked closer, the wringing motion of her hands and her grinding teeth told a different story.
The voice-over explained that her name was Crystal and that she was five years old. She had been diagnosed with Rett syndrome at the age of three.
‘The doctors told Crystal’s mom that she had no awareness,’ the voice-over stated, ‘but they were wrong.’ In front of Crystal was an iPad and she was gazing intently at it. ‘How are you today, Crystal?’ her mother asked. There was a pause, and her daughter continued to look at the iPad. ‘I’m feeling fine,’ came an electronic voice from the device. ‘Can I have some chocolate now?’ Crystal’s face broke into a smile.
There was a flutter of laughter in the room, infused with amazement. On screen, Crystal was being taken in her wheelchair into the kitchen.
‘Eye gaze technology is great. It’s shown us that people with Rett syndrome do have things to say,’ the voice-over continued. ‘But it can only go so far.’
The parents watched Crystal’s mother break a chocolate bar into tiny pieces before putting it in the microwave for a few seconds to soften it. Then she fed it to her daughter by hand, piece by piece.
‘We believe that we can do better than this. Much better. Groundbreaking gene therapy offers us the possibility of reversing Rett syndrome’s symptoms. We believe that if we get it right, nobody on this earth will need to suffer from this horrendous disease any more. We will set people like Crystal free. They will have normal lives.’
Crystal was again on screen, sitting serenely as her two younger siblings played with their toys around her chair. ‘We need your help to carry out a groundbreaking trial to see if our belief is right. Donate today.’
The final shot was a close up of Crystal’s face, with the crowdfunding link superimposed on the screen. The screen faded to black and the parents’ attentions switched back to Professor Larssen. There was silence in the room.
‘It’s quite something, isn’t it?’ he said, breaking that silence. ‘It sounds almost like science fiction, I know that. But the fact is, we do have the money to do this trial now, here in the UK. This charity says our regulations are more favourable for it, so it’s taking place here. I must caution you and say that it may still prove to be science fiction. It’s my job, as a doctor and a scientist, to tell you that. I’m perfectly clear that we could be barking up the wrong tree. I am not living with false hope – and I want you to be the same. You have to understand that those promises, those hopes on screen, they could be wrong. It’s very possible they are. But they could be right, and for that reason, I believe that everyone with Rett syndrome deserves this chance. Now, let me give you some details about the practicalities…’
Professor Larssen went on to give enrolment details, age requirements, fitness levels, family history, the legal specifications. As this was to be a phase one trial, he said, families needed to understand that they were going to be giving a relatively low dose of the virus – therefore, results might be limited. He went on to explain that the viral vector would be injected into them via lumbar puncture, which might be ‘uncomfortable’, and that they’d need to spend several days in hospital afterwards, followed by close monitoring at home.
Children taking part in the trial would need their parents’ consent to take part, he said. On the other hand, adults like Patience would need a letter from their doctors and approval either from both parents, or from someone else representing their interests, a so-called ‘consultee’.
The professor made it clear that there were a limited number of places available on the trial, and that he and his team would be selecting their subjects carefully. Except for Patience, of course, who had a guaranteed slot already. Louise was incredibly grateful for that. She still hoped she’d get that signature from Pete giving it the go-ahead, but if that didn’t happen, she had a backup plan…
The session drew to a close. Professor Larssen stopped talking and invited questions. The first one came from a shaven-headed man sitting several rows from the back.
‘So, you said you weren’t sure this will work. Does that mean you think it’s pretty likely that it won’t? Are you basically telling us it’s a waste of time?’
‘No, no, nothing like that,’ the professor replied. ‘I am actually fairly optimistic. I do think this has a good chance of working. Don’t get the wrong impression. I am merely trying to equip you with all the facts. As I said, we are only going to give a low dose this time, so it may not have a dramatic effect. But it also means it is safer.’
The man didn’t ask another question. Louise saw him turn to his partner and whisper something in her ear. Then, another hand shot up at the front of the group. This time it belonged to a black woman with beautifully plaited hair piled artfully on her head.
‘You said in your talk there might be side effects. Can you tell us more about those?’ she asked.
‘At this stage, it is almost impossible to tell what they might be,’ Professor Larssen replied. ‘But trials we’ve done in the lab suggest this is relatively low risk.’
‘But what are the actual things that could go wrong?’ the woman insisted.
‘As I said, we will try to remedy the Rett genetic defect using a viral vector. That’s a virus which will enter the body and target the specific gene that needs fixing. The risk is that we could affect more cells than we mean to, or we somehow damage some other part of DNA. Or we could “overexpress” the gene and cause too much protein to be produced, and that can be harmful too.’
‘So what does that really mean? What could happen to my daughter?’
‘In most cases, hopefully very little,’ he replied. ‘But there is always the risk of something serious, like cancer, potentially. I showed you the list on the slide earlier and this is also explained in detail in the information packs you’ll collect on your way out.’
‘Are you saying my daughter could develop cancer as a result?’
‘It is one of the risks we’ve identified, yes,’ he replied.
There were no further questions.
One by one, the parents stood up, picked up their coats and bags, and filed out of the room, taking an information pack from Louise as they left. When they’d all gone, she walked round the chairs checking for lost property, and then put the remaining packs carefully back into her own bag so that she could return them to the office in the morning. She walked over to Professor Larssen to tell him she was leaving. He was making notes on his script, which Louise had printed for him several days ago.
‘Thanks, Louise. Well done. Excellent turnout, I thought.’
‘Yes, we didn’t have any no-shows,’ she said, fiddling with her bag strap. ‘How many of them do you think will apply?’
‘Oh, probably all of them,’ said the professor, looking up from his writing and raising an eyebrow.
‘Really?’
‘Yes. We’re their only hope, aren’t we? It wouldn’t have mattered if I’d told them there was a strong chance their children would come out of it with webbed feet. They’d still do it.’
Louise was startled.
‘That seems incredible,’ she said, putting her hands on her hips. She thought for a second. ‘But I suppose you’re right. I feel that way about Patience.’
‘Well, there we are,’ the professor said, packing his laptop and script away and picking up his briefcase. ‘I’ll see you tomorrow, Louise. Thanks for today,’ he continued, walking to the door. ‘Good work.’
Louise waved goodbye as he headed out into the lobby. After he’d gone, she spent a few minutes throwing abandoned paper cups in the bin and straightening chairs.
As she hoisted her bag onto her shoulder and walked towards the door, she thought back to that morning, to that awful row she’d had with Pete. He had accused her of putting Patience forward for the trial for selfish reasons. And while she absolutely disagreed with that, she did recognise that her decision to forge ahead with it, to completely ignore Pete’s concerns, was an act of defiance.
She had spent a lifetime caring for others and acquiescing to their views, but now – now was her time. Something in her had changed; she had found a new energy. And she was going to use that to pursue what she believed was right, whatever Pete thought, because Patience’s future happiness depended on it.