style="font-size:15px;"> She crumpled the memo with unusual force and hurled it at her wastebasket. The snake! He’d tried one way and it hadn’t worked. And now he’d pulled a few strings and manoeuvred things so she’d be forced to go out with him. Well, it wasn’t going to work. The next time she saw him, she’d tell him straight.
Except she couldn’t. Because the next time she saw Ramón, she was in Stephen Knights’s cubicle, writing down the results of his observations, and Ramón had just walked into the room. She could hardly pick a fight with him in front of parents. Instead, she gritted her teeth and carried on with her task.
‘Jennifer, may I see you for a moment, please?’
She bit back the ‘Go to hell’ that had risen to her lips. ‘Of course, Dr Martínez.’
This time, he didn’t nag her about using his name. He even flushed very slightly. So he must know he was squarely in the wrong, she thought grimly. She followed him into the day room.
‘Perhaps we could have coffee for the Harpers and juice for their daughter?’
So now he thought the role of a senior nurse was to fetch drinks? Her disgust must have been written all over her face, because he added, ‘Unless you think tea’s better for helping to break bad news.’
‘Bad news?’
He nodded. ‘Which is why I wish to see you.’
Surely he wasn’t going to claim that he needed her to act as an interpreter? Apart from the fact that she couldn’t speak Spanish, his English was excellent, with barely a trace of an accent.
‘You’re good with patients and their families. And I think Mr and Mrs Harper will need a lot of support.’
She frowned. ‘What is it?’
Without comment, he passed her a file. She opened it and glanced at the test results on the first page. ‘“45 XO.”’
‘Classic Turner’s syndrome,’ he confirmed.
‘Poor kid. Poor parents. Where are they?’
‘In the playroom, with their little girl, Charlotte. I’m going to take them to my office. It’s quieter there than in the day room.’
And more private. She nodded. ‘I’ll bring some coffee.’
‘Thank you, Jennifer.’
As soon as she walked into his office with the tray of drinks, he gave her a look of relief and introduced her to the Harpers.
‘And this must be Charlotte. I brought some juice for you, Charlotte,’ Jennifer said. ‘Shall we draw some pictures while your mummy and daddy talk to Dr Martínez?’ The little girl nodded shyly, and Jennifer handed round the coffees before settling herself on the floor with the little girl, a pile of paper and a box of crayons.
‘It’s Ed and Fran, isn’t it?’ Jennifer asked.
‘That’s right.’ Fran had a pinched look about her mouth. ‘So, what’s wrong with Lottie?’
‘It’s a chromosome abnormality called Turner’s Syndrome,’ Ramón said.
‘Like Down’s, you mean? But why wasn’t it picked up when she was born? Or when I was pregnant?’ Fran asked.
‘Not all antenatal tests screen for Turner’s syndrome,’ Jennifer said. ‘And unless she had a heart condition or showed any signs of puffiness in her hands and feet just after she was born, it’s not something that would be picked up until the age of around five or six. There are other signs—such as a short neck which looks webbed because of the folds of skin, low-set ears, short fourth toes and fingers, spoon-shaped soft nails and a low hairline—but unless your GP suspected Turner’s, no one would be actively looking for the signs.’
‘There isn’t any history of it in our family. Well, not in mine,’ Ed said, reaching out to take his wife’s hand and squeeze it. ‘We don’t know about Fran’s.’
‘I was adopted,’ Fran said.
Jennifer forced herself to smile. Adoption was common enough. Though Ed didn’t have that same look on his face as Andrew had always had when speaking of Jennifer’s lack of family.
Then she became aware that Ramón was speaking. ‘Turner’s syndrome isn’t a hereditary disease,’ he said. ‘It’s an accident that happens when a cell divides after conception and a chromosome is lost.’
Ed frowned. ‘So what does that mean?’
‘There are twenty-three pairs of chromosomes in the human body, and pair twenty-three is the one that decides if you are a girl or a boy. For a girl, chromosome pair twenty-three is XX, and for a boy it’s XY. The results of Charlotte’s karyotype—that’s what we call the chromosome analysis—show that her X chromosome is missing in number forty-five. So, instead of being XX, she’s just X.’
‘So that’s my fault?’ Fran asked.
If it had been Jennifer sitting there with Andrew, she wouldn’t have asked that question—because he would have made the accusation first. They didn’t know her background, so it was all her fault.
‘It’s nobody’s fault. The missing X can come from the father’s sperm or the mother’s egg. We don’t know which.’ Ramón spread his hands. ‘It happens in one in two thousand girls.’
‘What about boys?’ Ed asked.
‘A boy can’t have Turner’s syndrome,’ Ramón said quietly. ‘The Y chromosome can’t survive on its own, so the male foetus would be miscarried.’
‘But Lottie seems so normal. Just a bit shorter than the other little girls in her class.’ Fran sighed. ‘I thought the health visitor was making a fuss over nothing.’
‘No. With Turner’s syndrome, the gene responsible for long bone growth is missing, so without any help Lottie wouldn’t grow any taller than one metre forty-three—that’s about four foot eight,’ Jennifer said.
‘So she’s always going to be small?’ Ed asked.
‘She’ll always have Turner’s syndrome,’ Ramón said. ‘But we can help with the height. We can give her some growth hormone, starting around her sixth birthday, though it’s quite a long course of injections.’
‘And then she’ll be normal height?’ Fran asked hopefully.
‘A little shorter, but not as small as if she’d had no treatment at all. Provided the treatment is consistent, of course. If she starts missing injections, it won’t work as well. There’s also the possibility of using an anabolic steroid to boost her growth.’ Ramón shifted in his seat. ‘She’ll also need oestrogen treatment from around the age of thirteen.’
‘Why?’ Ed asked.
‘Nearly all girls with Turner’s syndrome have a problem with their ovaries,’ Jennifer said. ‘They don’t function, so Lottie won’t have periods or develop breasts if she doesn’t have oestrogen and progesterone treatment.’
