He nodded. ‘Symptoms usually start at birth, but might not be noticed for a few days. If it’s less severe, it might start later in childhood or even adulthood. The lack of the enzyme causes excess nitrogen in the blood, in the form of ammonia.’
‘Which damages the central nervous system. So that’s why she’d be lethargic, refusing to eat, and her breathing’s too fast,’ Georgie said thoughtfully.
‘I’d check her liver, too,’ he said. ‘And there’s also a risk of neurological damage.’ He paused. ‘If it is argininosuccinic aciduria, would you like me to talk to the parents with you?’
‘As I’ve never come across a case before, yes, please,’ she said.
‘I’ve only seen one case,’ he said, ‘when I was a student. But the baby was fine and he still comes in to see us regularly, so that should help reassure Jasmine’s parents.’
‘Is there a support group?’ she asked.
‘Yes, so we can give her parents the details.’
‘Thank you.’ She finished her coffee. ‘Sorry to be rude, but I’d better get back. I won’t be happy until I get those test results.’
The results provided the answer: there were indeed raised levels of ammonia in Jasmine’s blood. Georgie went to the SCBU to update them and start treatment for Jasmine, then went to find Ryan. ‘Thank you. Your diagnosis was spot on,’ she said.
‘Let’s go and see her parents,’ he said.
She introduced him to Jasmine’s parents. ‘Dr McGregor’s the acting consultant in the department, and thankfully he’s seen a case like Jasmine’s before, so he was able to suggest different tests and we know what’s wrong now,’ she said.
‘So is she going to d—be all right?’ Jasmine’s dad corrected himself, looking anxious.
It was the big fear of every parent with a newborn, and her heart went out to him.
‘We’re treating her now, so hopefully she’ll start turning a corner today,’ Ryan said reassuringly.
‘So what’s wrong with her?’ Jasmine’s mum asked.
‘It’s something called argininosuccinic aciduria,’ Georgie said. ‘It’s caused by an enzyme deficiency.’
‘When your body digests protein, the protein is broken down by enzymes into amino acids, and some of the acids turn into ammonia,’ Ryan explained. ‘Usually ammonia is excreted from the body when you urinate, but the enzyme deficiency means that Jasmine’s body can’t do that so the ammonia builds up in her blood.’
‘Can you treat it?’ Jasmine’s mum asked.
‘Yes. She’s still very poorly and it’s going to take a couple of weeks before she’ll be able to come home again,’ Georgie said, ‘but we know what it is now, so we can give her the right treatment.’
‘First of all, we need to filter her blood to get rid of the ammonia,’ Ryan said, ‘and then we need to find the right balance of milk protein feeds and medication to keep her ammonia levels under control.’
‘And she’ll be all right?’ Jasmine’s dad asked.
‘There can be complications, but she should be fine,’ Ryan said.
‘Argin—’ Jasmine’s mum shook her head.
‘Argininosuccinic aciduria,’ Georgie repeated.
‘I’ve never heard of it,’ Jasmine’s mum said.
‘It’s rare—about one in a hundred thousand babies get it—but there are children living perfectly normal lives with the same condition,’ Ryan reassured her. ‘When I was a student, I treated a baby with it here, and he’s doing just fine. He’s at high school now.’
‘Is there a family history of any urea cycle disorders for either of you?’ Georgie asked.
Jasmine’s dad shook his head. ‘Not that I know of—though my parents had a little boy about six years before I was born, and he died when he was a couple of days old. They thought it was cot death.’ His face filled with terror. ‘Oh, no. Does this mean he had the same thing that Jasmine has, this argino thing?’
‘It’s a possibility,’ Georgie said, wanting to reassure him, ‘but the difference is that we know what it is, so we’re treating her and she’s not going to die. If your brother had it, it sounds as if nobody picked up on it and he didn’t get treatment.’
Jasmine’s mum looked awkward. ‘I’m adopted, so I don’t know if there’s anything in my blood line. I’m not in touch with my birth family.’
Georgie squeezed her hands. ‘It’s fine. We can offer you some tests to see if either of you is a carrier or has a problem with the enzyme, and if that’s the case then if you have more children we’ll know to test the baby straight after the birth.’
‘I’m just so...’ Jasmine’s mum dragged in a breath to cut off the words.
‘Of course it’s scary,’ Georgie said. ‘She’s a day and a half old. But she’s in the right place and you both did all the right things. You brought her here in good time.’
‘We’re giving her the right treatment and we’re expecting a good outcome,’ Ryan said, ‘but I do need to tell you that sometimes argininosuccinic aciduria can cause neurological damage. Right now it’s early days so we can’t give you a definitive answer, but it might be that because of what’s happened Jasmine takes a little bit longer than average to reach the baby milestones—rolling over, sitting up, that sort of thing.’
‘But we’re keeping a very close eye on her,’ Georgie said. ‘Once we’ve got her stabilised, we can work with a dietician to find out the right amounts of protein and medication she needs. You can give her the medicine with an oral syringe, just as you would with infant paracetamol. Though you’ll need to monitor every single thing she eats, and she’ll need regular follow-up appointments as she grows to make sure that she’s still getting the right amount of protein and medication.’
‘It sounds a bit daunting,’ Ryan added, ‘but it’s workable.’
‘We’ll do everything we need to, to keep her well,’ Jasmine’s mum said.
‘Everything,’ Jasmine’s dad agreed.
‘That’s great. We can also give you an emergency plan to follow if she picks up a bug that makes her sick or gives her diarrhoea, which
