‘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.
Patience Page 10
