The Spanish Consultant's Baby

‘Keiran’s test showed higher than normal amounts of sodium and chloride in his sweat. And Keiran’s stools are large, greasy and very smelly,’ Ramón continued.

Again, it was a typical symptom of cystic fibrosis—the pancreas couldn’t produce the right enzymes to break down food in digestion, so the child couldn’t digest fats.

‘So we’ve diagnosed cystic fibrosis.’

‘Which means he’s going to die,’ Mrs Stewart whispered.

‘The earlier we diagnose it, the better chance he has,’ Ramón said. ‘Every week, around five babies in the UK are born with cystic fibrosis. Thirty years ago, the average life expectancy was around five years—now it’s closer to forty years and most sufferers lead relatively normal lives.’

‘There isn’t any history of it in our family,’ Mr Stewart said.

‘It’s possible to be a carrier without having any symptoms,’ Ramón told him.

‘One person in twenty-five carries the gene. If both parents are carriers, there’s a one in four chance the child will have it, and a one in two chance he’ll be a carrier,’ Jennifer said. ‘Do you have any other children?’

‘No. He’s our first,’ Mrs Stewart said. ‘Does that mean if we have other babies, they’ll have cystic fibrosis, too?’

‘Not necessarily, though the risk is the same as Sister Jacobs said. One in four that a baby will have it, and one in two that the baby will be a carrier.’

‘We can arrange for you to talk to a counsellor who specialises in genetic disorders,’ Jennifer said gently. ‘She can help you decide what you want to do in the future.’

‘What does the disease do to him?’ Mr Stewart asked.

‘Cystic fibrosis is an inherited disorder of the digestive and respiratory system,’ Ramón explained. ‘His body can’t break down food properly, so it doesn’t absorb all the nutrients he needs—that’s why he isn’t growing as much as he should. His body also has a problem with a protein called CFTR, or cystic fibrosis transmembrane conductance regulator, which moves salt and water over his cell membranes. The mucus in his body becomes thick and sticky, and blocks the air passages to his lungs, which is why he wheezes and coughs. He’s more likely than the average child to catch a cold or have a fever, and this can turn to pneumonia.’

‘So he’s going to die,’ Mrs Stewart said again.

‘If he has no treatment, his lungs will be damaged by chronic infection,’ Ramón said. ‘But there are a lot of things we can do to help.’

‘You’ll need to give him some pancreatic enzymes in his food to help break down the starches, proteins and fats in milk and solid food,’ Jennifer said. ‘He’ll also need extra calories so he gains weight and grows properly, plus extra vitamins A, D and E.’

‘When you wean him, you must give him a variety of foods and extra calories and protein to compensate for the loss of fat and protein in his stools.’

‘Sausages are really good,’ Jennifer added.

‘If you help him become well nourished, he will cope better with infections,’ Ramón said. ‘We can give him steroids to reduce the inflammation in his airways and help his breathing.’

‘Steroids? Aren’t they the things bodybuilders use?’ Mrs Stewart asked, clearly horrified.

‘No, that’s anabolic steroids,’ Jennifer said gently. ‘These are corticosteroids, which are present naturally in the body, so there’s nothing to worry about.’

‘We can also give him a nebuliser so he can inhale drugs that relax his muscles and let his airways open—it’s very similar to asthma medication,’ Ramón said. ‘And when he’s old enough to crawl and walk and run, you must encourage him to exercise to improve the strength of his lungs. Encourage him to do things that make him get out of breath, such as running and swimming and football.’

‘Wheelbarrow racing’s brilliant,’ Jennifer said. ‘He’ll enjoy it so it won’t feel as if you’re making him work hard. It’s a stretching exercise, too, as well as helping to drain the secretions from his lungs.’

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