Mrs Goren nodded. ‘You took some blood for testing, and he had an MRI scan.’
‘That’s right.’ Nick brought up the film of the scan on his computer monitor and turned to Katie. ‘Do you want to explain the results?’ he asked.
Katie nodded, and looked at the boy. He was a thin child, slightly underweight, with cropped brown hair that gave him an elfin look. He was looking at her now with large eyes and a faintly worried expression.
‘What we discovered,’ she said, ‘was that you have a fatty substance in your liver and spleen. It shouldn’t be there, and so we needed to find out what was going on inside you that would have caused it.’
Matt nodded, but looked puzzled and, picking up on that Katie said quickly, ‘I want you to feel free to ask me questions at any time, Matt. If there’s anything you don’t understand, or anything you’d like to say, just go ahead.’
He frowned. ‘Have you found out what caused it? Is it something I’ve done? The boys at school tease me.’
Katie gave him a sympathetic smile. ‘No, it’s nothing that you’ve done, and I’m sorry that you’re being teased. Perhaps when you explain to the boys what’s wrong, they’ll understand a bit better and stop making fun of you.’
She glanced at his mother. ‘Matt has a condition called Gaucher’s disease. Basically, it means that he was born without an enzyme that breaks down a substance called glucocerebroside.’ She turned to Matt. ‘Because you don’t have this enzyme in your body, the fatty substance isn’t broken down and has to find somewhere to go. Unfortunately, when it finds a home in places like your liver, your spleen or even your bones, for example, it stops those parts of you from working properly. That’s why you’ve been having pain in your thigh, and it’s the reason for you being tired all the while.’
‘You’re saying he was born with it?’ His mother was frowning. ‘Does that mean it’s a hereditary disease?’
Mrs Goren’s gaze flew in alarm from Katie to Nick, and Nick answered quietly, ‘That’s right. You and your husband may not suffer from the disease, but it’s possible that either one or both of you may be a carrier. It can go back through generations, although there may not be anyone in the family that you know of directly who has the disease.’
All at once Mrs Goren looked close to tears and Katie hurried on to say, ‘The good news is that we do have treatment for it.’ She smiled at Matt. ‘There’s something called enzyme replacement therapy, which helps to break down this fatty substance and should soon start to improve things for you.’
Matt’s brow cleared, and his mother dabbed at her eyes with a tissue and did her best to pull herself together. She looked at Nick. ‘Can we start him on this treatment straight away?’
He responded cautiously. ‘I can arrange an appointment for him at the hospital. The answer isn’t as simple as taking a tablet, I’m afraid, but what happens is that Matt will be given an infusion—it takes about an hour to administer, and the treatment is given once a fortnight. He’ll need to stay with the treatment for life, until such time as science comes up with a better answer. It’s a rare disease. Of course, he’ll be carefully monitored on a regular basis, so that we can check how he’s responding.’
Katie was silent, watching as mother and son tried to absorb what he had just told them. Nick waited, too, before gently asking if they had any questions for him. He was unfailingly patient and kind, and her respect for him grew. In fact, every time she saw him at work, she marvelled at his caring, conscientious manner.
Mrs Goren and Matt both remained quiet for a moment or two longer. Perhaps they had all the information they could handle for the time being. It was a lot to take in, but the consolation was that from now on they would receive masses of help from the clinic at the hospital… along with ongoing input from Nick and herself, of course.
‘Will the treatment cause the swelling to go down?’ Mrs Goren asked, and Nick nodded.
‘You should see a great improvement.’ He looked at Matt. ‘And the pain will go away.’
After answering a few more questions, and doing what he could to put the mother’s mind at ease, he said, ‘Let me leave you with some reading material that I’ve printed out for you. I’m sure there will be things that you think of once you leave here, but I’m hoping that these papers will help answer any immediate queries… and, of course, you can always come and see me again if you want to talk.’
Katie glanced at Nick. That was a thoughtful touch—he had gone that one step further to give his patient everything he could, and she could see that Mrs Goren was pleased.
Nick gave his attention to Matt, and said, ‘The nurses and doctors at the clinic will look after you and explain anything you want to know. Next time you come to the hospital for an outpatient appointment, I’m sure you’ll be feeling a whole lot better. In the meantime, keep taking the painkillers if you have any more trouble with your thigh, and get plenty of rest. Once you get started on the treatment, I’m certain you’ll begin to feel much more energetic.’
Matt nodded. ‘Thanks,’ he said, and gave a shuddery sigh. ‘I thought I had some horrible illness that was going to make me die, but it’s not as bad as that, is it?’
‘No, it isn’t,’ Nick told him with a reassuring smile, and Katie’s heart went out to this child who had suffered in silence all this time. ‘And if you ever have worries of any kind,’ Nick added, ‘please speak up. Don’t keep it to yourself. Often things aren’t nearly as bad as you think, and we’re here to help you in any way we can.’
After they left, Nick invited Katie to stay awhile and made coffee for both of them. ‘I need to write up my notes while they’re fresh in my mind—but perhaps we can talk after that?’
‘Okay.’ She sipped her coffee and leaned back in her chair, thinking about the day’s events. From a medical standpoint at work, things had gone well, but she felt uneasy somehow. There was still that niggling worry over her father’s health.
She gave a faint sigh, and then stretched. What she needed right now was a complete change of scene, a trip to the beach, perhaps or maybe even a walk through the cobbled streets of the town. But that wasn’t likely to happen for a while… Perhaps she ought to go and see her father, see how he was bearing up. There might be something she could do for him.
‘Are you okay?’ Nick asked.
Caught off guard, Katie quickly tried to collect her thoughts. She hadn’t realised he’d been watching her. ‘I’m fine, thanks.’
His gaze flicked over her. ‘You seem… pensive. If there’s something wrong, perhaps I can help?’
She shook her head. ‘I was just thinking about my father—I feel that I should go over to his place to see if he’s all right. I rang this morning and he was having a bad day, according to the nurse, Steve. It’s a bit worrying—apparently he was talking but not making much sense.’
Nick winced. ‘That happens sometimes when the blood oxygen levels are low.’
‘Yes. Even so, I asked Steve to send for the doctor to see if he would prescribe a different medication. He hasn’t called me yet to let me know what happened. I suppose he’s been too busy, with one thing and another, or perhaps he didn’t want to tie up the phone line if the doctor was likely to call.’
‘That’s probably the case.’ He studied her thoughtfully. ‘Would you like me to go with you to see him? It’s never easy when someone in the family is ill, is it?’
‘No, it isn’t.’ She might have known Nick would understand. He had been through difficult times with his mother in the past, and it said a lot about his compassion and perception that he was offering to be