Antoinette Morelli used to think there could be nothing worse than having a baby with a medical problem. She was wrong. What she discovered, after the birth of her daughter Layna, was that the worst thing of all was having a baby with an undiagnosed medical problem.
Layna was born on the same day as Leo Blair, May 20: while the nation had its eyes on the Chelsea and Westminster Hospital in central London, across the water at the Royal Maternity Hospital in Belfast, Layna's appearance was hastened by forceps.
"They thought that's why she was puffy," says Morelli, 25, a drama student at Queen's University. "But the swelling didn't go down, and I could see the midwives getting more and more worried. She was in her cot by my bed and paediatrician after paediatrician kept coming along to have a look at her. I was worried sick, but they weren't saying anything to me. Eventually I plucked up the courage to ask one what was wrong. He said, 'I don't want to worry you, but have you heard of Turner's syndrome?'"
Morelli hadn't, but over the next few days, as she waited for the test results, she learned a lot. "Friends tried to be helpful and brought me information from the internet. They were trying to be kind but it was terrifying - Turner's meant my baby's heart would be deformed, she'd be on drugs, and she'd be infertile. I was still reeling from the shock when the geneticist came to say the tests were negative."
Morelli was so relieved that it only hit her later that her daughter still had a problem, and doctors didn't have a clue what it was.
Layna was discharged from hospital, but had to return for regular check-ups - and as days turned to weeks, the fluid retention got worse and Morelli's fears grew. "I remember looking into her pram one day when we were out, and seeing this little ghostly face peering out at me," she says. "Her nappies were foul-smelling too - it was clear something was very wrong." Eventually, when she was a few weeks old, Layna was readmitted.
"She was going downhill fast - the swelling in her hands and feet was deteriorating, and although she was hungry all the time she wasn't getting any bigger. In fact she was wasting away - you could see her veins through her distended belly. I'd sit by her all day long and it would gnaw away at me what could be wrong, and what could be done. I've have done anything to make her better. Doctors kept coming in to look at her, and I'd look at them and plead silently for them to say, 'We know what it is, we've got the answer.' But they were as perplexed as I was."
Doctors did blood test after blood test, x-ray after x-ray, took sample after sample. The breakthrough came when, still not knowing what was wrong, Layna was given albumin intravenously. Whatever her condition was, she wasn't getting enough protein - with the albumin, there was at least a slight improvement. A biopsy of Layna's bowel showed that she was suffering from some kind of malabsorption problem - and though she was too ill to undergo a planned second biopsy, she was put onto a special milk containing pre-digested fats. "It wasn't a fast turnaround, but she started picking up slowly," says Morelli.
Finally, after 10 long weeks of waiting and worrying, the consultant gave her child's condition a name: intestinal lymphangiectasia. "I hadn't heard of it before, of course, but what it meant was that the lymph vessels supplying the lining of Layna's small intestine are enlarged, which led to the fluid retention and stopped her absorbing fats from her milk."
Getting a label for Layna's condition was a huge step forward, finding out what it meant proved more difficult. The condition is so rare that it affects only a handful of children in the UK and most of the doctors who have been treating Layna have never encountered it.
What Morelli, who is a single parent, wanted to do most was talk to another mother who had been there and understood. Fortunately the charity Contact A Family has been able to put her in touch with Karen Lightowler, who lives near Keighley in Yorkshire. Her daughter Emma, now 11, was diagnosed with this illness at two.
"We had two years of worry, two years of illness, two years of tests. And at the end of it, we were told she had something the doctors knew hardly anything about. I was convinced she had cystic fibrosis, and she was tested for it several times. Of course it's never good to hear your child has cystic fibrosis, but at least they know a lot about it, at least you can talk to other parents who've been in the same situation. I just felt so alone, so much as though they were stabbing in the dark with the treatments they came up with."
Intestinal lymphangiectasia is so rare that the Lightowlers abandoned their attempt to set up a support group, but they do provide support by telephone to other parents whose child has been diagnosed with the condition, and are in touch with six families in the UK and a couple in the US. "What you really want is to know other families where the child is older than yours, so you know what to expect in the future," says Karen. "Also, it's good just to know that there are people who've made it into their 20s. We also heard of a case where a woman had children of her own, which was reassuring, as we've been told pregnancy might be difficult for Emma."
The good news is that, with special diets, both Layna and Emma are thriving. Layna, now four months, is back home and, says Morelli, "looks fantastic". "You'd never guess what she'd been through," she says. Emma is small for her age and has to have nightly tube feeds directly into her stomach, but in every other respect she leads a normal teenage life. "Of course there are times when things are difficult, when you worry and wonder about the future," says Karen. "But at least there are other parents I can talk to now, and I know they'll understand."
The Guardian is following the fortunes of 10 babies born on the same day as Leo Blair. There will be regular updates on Layna and the nine other babies in the months ahead. For more information on Contact A Family call 020-7383 3555 or go to www.cafamily.org.uk.