Within 15 minutes of the birth of their baby daughter, Isobel, Abigail and Shaun knew that something was wrong. Abigail shares their story of how Isobel was diagnosed with cystic fibrosis (CF) and her hopes for the future.
“It had been an easy pregnancy and I was expecting everything to be fine. But Isobel started being sick very quickly after being born, bright green stuff, and we knew that there had to be a problem,” says Abigail.
Within half an hour, Isobel was in the special care baby unit, and was soon transferred to Great Ormond Street Hospital (GOSH) for further tests.
Just 15 hours after being born, Isobel underwent a major operation to form a stoma to relieve her blocked bowel. Isobel spent three days in intensive care while the medical team awaited the results of blood tests to confirm a diagnosis.
When test results revealed that Isobel had CF, Specialist Nurse Denise Sheehan, and Respiratory Consultant Dr Colin Wallis came to meet Abigail and Shaun.
“They were so positive and said two things that really stuck on my mind. 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.”
Following a further operation to reverse Isobel’s stoma and correct her bowel, the family finally returned home to Enfield, north London, with several medicines to help Isobel digest her food and keep her healthy, and a physiotherapy routine.
Physiotherapy is a key part of Isobel’s 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!”
Hopes for the future
Isobel is now a strong, healthy toddler, but she still has regular check-ups at GOSH and sees the CF team frequently. “I really like going - it’s reassuring to know she is doing well” says Abigail.
Isobel also has a younger brother, Finlay, who was born in November 2013. Finlay was also diagnosed with CF shortly after birth following a test carried out on the blood from the umbilical cord, and comes to GOSH for treatment. “They are both doing really well,” says Abigail.
“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.”
To find out more about advances in treating cystic fibrosis, read about GOSH Professor Stephen Hart and the UCL Institute of Child Health’s (ICH) pioneering gene therapy technique. You can also learn about how the charity is supporting the trial of a new model of outreach physiotherapy and exercise care to help keep children with CF healthy and out of hospital.