Living with cystic fibrosis

Within 15 minutes of the birth of their baby daughter, Isobel, Abigail and Shaun knew that something was wrong. Here, Abigail shares her story of how Isobel was diagnosed with cystic fibrosis and her hopes for the future.

"It had been an easy pregnancy and I was expecting everything to be fine," says Abigail. "But Isobel started being sick very quickly after being born, bright green stuff, and we knew that there had to be a problem."

The midwife who had delivered baby Isobel that night at Chase Farm Hospital, Enfield, rushed off to find medical back-up and within half an hour, Isobel was in the special care baby unit.

"We were soon told that she needed to be transferred to Great Ormond Street Hospital (GOSH) for more tests," says Abigail.

"Shaun went with her as I recovered at Chase Farm. It was very hard not being with my daughter. I had expected to be in bed, feeding her in the hours after her birth. In fact, I didn’t see her for eight hours."

Surgery within hours of birth

Shaun and Abigail arrived at GOSH and by 11am the next day, just 15 hours after being born, Isobel was undergoing a major operation.

"The surgical team told us afterwards that Isobel had a blocked bowel. The surgery was complicated and lasted five hours, as the bowel was torn. Isobel had been given a temporary stoma and they hoped they had repaired the damage," says Abigail.

"The team also mentioned that a diagnosis of cystic fibrosis (CF) was a possibility. A blocked bowel apparently is a clear sign."

With Isobel in intensive care, and the medical team waiting for the results of blood tests to confirm the diagnosis, Abigail and Shaun researched the condition on the internet.

"With no history of CF in either family, we didn’t know much about the condition other than it affected the lungs," says Abigail. "We found out that it can affect the whole body and in fact, what we read on the internet was terrifying.

"While she was in intensive care, Isobel was covered in so many tubes and wires. It was scary. I longed to be able to pick her up and breastfeed her like a normal mum.”

Diagnosing CF

When the test results showed that Isobel did have CF, Specialist Nurse Denise Sheehan, and Respiratory Consultant Dr Colin Wallis, from the GOSH CF team, came to meet Abigail and Shaun.

"They were so positive and said two things that really stuck on my mind," says Abigail.

"The first was that having CF did not mean that Isobel would not be able to lead a normal life. The second was that we should not think of her as a ‘sick child’. They were very clear that we could be proactive, and made us feel that we could be in control of her condition, not the other way round."

Newborn screening

Photo of Isobel
Because Isobel needed immediate surgery at birth, it meant the medical team picked up her condition quickly. Isobel had also had newborn screening, a blood spot test offered for all newborn babies in the UK, designed to check for five conditions: phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disorders (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

"If she hadn’t had the blocked bowel then CF would still have been picked up via the screening," says Abigail.

"I think it’s brilliant that they now routinely screen all babies rather than waiting for problems to occur. It’s another step forward in managing CF and improving life expectancy.”

Growing stronger

After three days in intensive care, Isobel was well enough to be transferred to a surgical ward at GOSH which became 'home' for the next three months. She was fed intravenously and given lots of different medications to help her digest her food and keep her healthy.

Around 10 weeks after her initial operation, the surgical team decided Isobel was strong enough for another operation to reverse her stoma and put her bowel back together.

"It was a bit nerve-wracking but the operation did seem to solve Isobel’s bowel problems, says Abigail. "It also meant that for the first time she could start on oral feeds. I had been expressing breast milk which had been hard work - but it meant I could now breastfeed her. It was so nice to feel that bond."

Home at three months

The family finally went home to Enfield, north London, with three carrier bags full of medication. Isobel needed seven different types of medicines including creon, to help her digest her food, an inhaled nebuliser and vitamin supplements to keep her healthy. Isobel by this stage also had a physiotherapy routine which consisted of physical activity on a gym ball and infant PEP which Abigail and Shaun carried out every day.

"Fortunately Isobel was incredibly good at taking her medication," says Abigail. "I put the medicine in a syringe and she was happy to swallow it."

Keeping active

The family knew that one of the most important things to keep Isobel healthy was to help her be as active as possible. Physiotherapy is a key part of Isobel’s treatment.

"When she was very little, we used a gym ball to bounce her up and down. We also introduced her to swimming, which she loves, and now she is walking she is racing around everywhere at top speed!" says Abigail.

Abigail and Shaun have been taught a routine of physical activity and airway clearance techniques. These techniques are designed to help clear secretions up and out of the lungs, and increase the amount of air entering the lungs. As Isobel gets older she will learn how to do her own physiotherapy treatment.

"We do her physio treatment for 20-25 minutes every day and rather than seeing it as a ‘treatment’, we have just made it part of her day’s activities. I try to make it as fun as possible by singing songs and adding in tickling games!"

Staying vigilant

Isobel is now a strong, healthy toddler, and hasn’t had a problem putting on weight, but there are some precautions the family still needs to take.

"We do need to be careful to avoid people with heavy colds or coughs - picking up a chest infection could be serious for Isobel," says Abigail.

"She has had a few colds but has got over them easily so far. Other things we need to steer clear of are damp and mould. The black mould you sometimes find in bathrooms, for example, could cause her major health problems. It means that I need to be extra vigilant.

"When we go swimming, I always talk to the pool staff to check that the pool is clean and if Isobel is going to play with toys that other children have used, I try to clean them first.”

GOSH check-ups

Photo of Isobel
Isobel needs regular check-ups at GOSH. Every two months, and sometimes more frequently, Abigail and Isobel meet with the CF team. Isobel has a series of tests including a bronchoscopy and lung function tests to check on her progress.

"I really like going - it’s reassuring to know she is doing well and the CF team are happy with her," says Abigail.

"We also see other members of the team, like a psychologist, and have been given really useful practical advice. For example, we were told how to apply for disability living allowance which, as I gave up my job to look after Isobel, has been helpful."

Changes in Isobel’s activity levels (such as when she started walking) have meant changes to Isobel’s physio routine. A physiotherapist visits the family home regularly to give Abigail advice and also visits if there are any specific problems.

Between appointments, Abigail can call the specialist CF nurses at GOSH if she has any concerns.

"I can leave a message and I always get a call back within a couple of hours," says Abigail. "GOSH also made sure that our GP was fully briefed and knew about Isobel. It feels as though her care is very joined-up which is just brilliant. It helps us manage and cope."

Online support

Another source of support is an online forum run by the Cystic Fibrosis Trust. "It’s a really good, supportive network. It’s a place I can go to talk to other mums, if there’s something small that’s bothering me that I wouldn’t necessarily need to ask the health professionals about," says Abigail.

For the moment, the family is taking each day as it comes.

"It’s difficult, you never know what’s going to happen. CF affects every person in a different way. We know that Isobel will get poorly at some point and we will have to cope as that happens," says Abigail.

"But it does feel like a condition we can control. With all the research carried out by GOSH and at the Cystic Fibrosis Trust, huge strides have been made in the last 10 years in terms of new drugs. People with CF are living until 50 or 60 now. There’s no reason why life expectancy shouldn’t continue to improve and no reason why Isobel should not be able to lead an active life and live to be a reasonable age.

"There’s a lot to be positive about - we try to concentrate on that."

Medical Conditions