Mother discovers her 'asthma' is actually life-threatening cystic fibrosis When Natalie Crawford, 31, was five months pregnant with her son, Preston, a scan and subsequent tests revealed he had cystic fibrosis Medics looked at her history and thought she might also have it - she had been repeatedly hospitalised with 'asthma' and had 'pneumonia' five times Further tests revealed she did, indeed, have the condition Natalie's liver and lungs have been damaged by years of suffering from the condition without receiving appropriate treatment She and Preston are both now receiving the care they need and are currently able to lead normal lives By Eve Mcgowan Natalie Crawford was five months pregnant when she was told her unborn baby boy had cystic fibrosis. It was devastating news - the incurable disease can cause major lung damage and digestive problems, and the average life expectancy for sufferers is just 40 years. Then doctors realised that Natalie, who was then 28, had the disease, too. Natalie Crawford was diagnosed with cystic fibrosis when she was pregnant with Preston who also has the condition. She was 28 and had spent her whole life believing she had severe asthma The "asthma" she'd suffered all her life - and which had put her in hospital ten times as a child - and the "pneumonia" she'd had five times in her teens, were in the fact down to cystic fibrosis. "I always felt poorly from as young as I can remember," says Natalie, now 31, a former nursery school teacher and mother-of-two from Northampton. There was no family history, so I was totally shocked by my diagnosis and my baby's. It was the worst day of my life. Natalie was 20 weeks" pregnant with her son Preston, now two, when a scan showed a blockage in the baby's bowel - a warning sign of cystic fibrosis, one of the most common life-threatening inherited conditions (it affects around 10,000 people in the UK). An amniocentesis confirmed that Preston had the disease. After looking at Natalie's medical history, doctors dropped the bombshell that they believed she, too, was likely to have it. Tests confirmed their suspicions. Cystic fibrosis is caused by a faulty version of a gene that helps salt and water move in and out of the body's cells - important for maintaining a thin coating of fluid and mucus inside the lungs, pancreas, and other organs. Natalie (pictured with Preston and daughter Skye) was only diagnosed because doctors started to look at her medical history when they discovered that her son had cystic fibrosis In people with cystic fibrosis, this process doesn't work correctly and the mucus becomes thick and sticky, clogging up sufferers" lungs and digestive system, causing a myriad of potential health problems. One serious consequence is that mucus can clog up the pancreas, meaning the body cannot absorb nutrients properly, resulting in malnutrition, poor growth, and weight loss. The damage to the lungs can lead to scar tissue and cysts, and patients find it increasingly hard to breathe, and would suffocate without a lung transplant. Cystic fibrosis is a genetic condition in which the lungs and digestive system become clogged with mucus. Symptoms usually start in early childhood and include a persistent cough, recurring chest infections and poor weight gain. An early sign is also that a child's sweat is unusually salty. There is no cure so the aim of treatment is to ease the symptoms. Most commonly it involves using medication to help expand the airways, taking antibiotics for infections and physiotherapy. In some cases, a lung transplant may be required. The condition is caused by a genetic mutation which allows too much salt and water into cells resulting in a build up of mucus. This mucus causes blockages in the body's tubes and passages which leads to damage to the lungs, digestive system and other organs. The condition is most common in white people of northern European descent and in the UK affects one in every 2,500 babies. To develop it, both of a child's parents have to carry the gene mutation. If this happens, there is a one in four chance the baby will not inherit either faulty gene, a one in two chance they will inherit one copy and be a carrier but not have the condition and a one in four chance they will inherit both copies and be a cystic fibrosis sufferer. Treatment has improved life expectancy for people with cystic fibrosis but it remains at about 40. One in 25 people of white European descent are carriers of the cystic fibrosis gene. If both parents are carriers, their child has a one in four chance of having the disease. Since universal screening was brought in for new borns in 2007 (using a blood test), most cases of cystic fibrosis are now diagnosed at birth. But it is by no means unheard of for it to remain undiagnosed until adulthood - last year of the 274 patients diagnosed with the disease, 24 were adults. The reason adults can have missed out on a diagnosis is because their symptoms weren't severe enough. "Some mutations of the cystic fibrosis gene are less faulty than others which leads to relatively mild symptoms," explains Professor Stuart Elborn, director of the Regional Adult Cystic Fibrosis Service in Northern Ireland. Patients with milder symptoms are less likely to have problems with their pancreas - and their life expectancy is expected to be 60 to 70 years. Professor Elborn sees three or four adult cases like Natalie's every year and believes there will be other adults out there who don't know they have the disease. The milder symptoms mask the severity of the disease in the first few decades, but as people get older the lung and digestive symptoms get worse, so what was originally called asthma turns out to be cystic fibrosis. Natalie Crawford was diagnosed with asthma when she was two, and given inhalers and steroids. "I had weeks off school when I couldn't move off the sofa," she recalls. Even on the days I was well I'd have chest pain and feel so tired that it was a struggle to get through the day. As a teenager the condition got worse, especially after nights out in smoky bars when she'd usually end up in hospital. Doctors gave her stronger inhalers and upped her doses of steroids, to no avail. In spite of her ill health, Natalie achieved very good GCSE results and went on to college where she qualified as a nursery teacher. But her infections got worse in her 20s and she had to have a lot of time off work as a result. She was referred to ear, nose and throat specialists who still failed to diagnose cystic fibrosis. She married, and at the age of 26 had a daughter, Skye. Despite struggling for breath more than ever through her first pregnancy nothing was picked up at this point. Natalie says she was devastated to learn that Preston had the condition but that she was relieved to finally have an explanation for her repeated periods of ill health Skye, now five, doesn't have cystic fibrosis, although tests revealed she is a carrier of the gene. Natalie says learning about Preston's disease was a devastating blow but she admits there was an element of relief on receiving her own diagnosis. I felt that no one truly believed how poorly I was before and now I would get some answers and the right treatments. Doctors warned her about her baby's reduced life expectancy and how tough the condition was to live with, and offered her an abortion. I couldn't imagine aborting my own child knowing they had the same genes as me. Natalie said: 'I always felt poorly from as young as I can remember. It was the worst day of my life I have come this far with a good quality of life. I never doubted that I wouldn't manage," she says. Preston has the same, milder form of the disease as Natalie. Although he attends preschool he suffers with more colds and viruses than typical children and needs lots of rest as his treatment regimen is so tiring. Because Natalie's cystic fibrosis went undetected for so many years her lungs have been irreparably damaged and she's been told she already has the lungs of someone in their 60s. She also has liver damage and mild osteoporosis as a result of her inability to absorb some vitamins properly, although thankfully her pancreas is working efficiently for now (although she is tested annually). Sadly, the strain of Preston and Natalie's diagnosis was too much for her marriage and at the beginning of this year she split up from her husband. Her main focus now is ensuring she and Preston stay as fit and well as possible. People with cystic fibrosis are vulnerable to bacteria that would be harmless to most people. Normally, mucus traps germs, which are then cleared out of the lungs. But in cystic fibrosis, they remain trapped, causing infections. "For the first year or so after having Preston I was really paranoid - everything had to be so clean and I wouldn't let anyone hold him, even my daughter, unless they'd used a hand gel," says Natalie. When I wash up, the dishcloth goes straight in the washing machine on a boil wash. Toothbrushes have to be dried straight after use and replaced almost weekly. One of the cruellest aspects of cystic fibrosis is that sufferers are told not to mix with others in the same boat because of the risk of cross infection of bacteria. It's really hard to know we're putting each other in danger although I was told Preston's more of a risk to me than me to him because of my lung damage. If one of us is unwell, usually a day or two after we both will be unwell. Staying active is important as movement loosens the phlegm in the chests, allowing for it to be coughed up. So Natalie and Preston jump on the trampoline, dance, and run in the garden for half an hour a day. Natalie and Preston now have to follow a strict treatment regime including having physiotherapy twice a day. Image shows a chest X-ray from a patient with cystic fibrosis (file image) Natalie found the logistics of making sure she and Preston stuck to their complicated treatment routine so overwhelming she gave up her job in order to focus on it. They both take several antibiotics daily and use a nebuliser - a device that turns liquid antibiotics in to droplets that can be inhaled and delivered directly to the lungs - for 20 minutes twice a day. They also need 20 minutes of physio a day to clear their airways. Natalie goes to the gym six days a week and she's hoping to complete a half marathon in March in aid of the Cystic Fibrosis Trust. She strives to let Preston and his sister have as normal a life as possible. Preston's a typical cheeky little boy who loves getting messy, splashing in muddy puddles and doing everything he shouldn't. He's been through so much - but he just takes everything in his stride. If you would like to sponsor Natalie visit uk.virginmoneygiving.com/nataliecrawford For more information visit www.cysticfibrosis.org.uk