Sophia's story - Cystic fibrosis

Sophia is a real little character: “She is strong, spirited and knows her mind. And she loves music and dancing,” says her proud mum. 

Watching Sophia playing with her brother Thomas is a simple but profound joy for Sarah and her husband Sam, who faced devastating news about their daughter’s health when she was just two weeks old. 

“When the midwife phoned to say newborn screening had raised some concerns, she asked me, is your partner in?” Sarah recalls. “I knew then that something was seriously wrong. We were told that Sophia has cystic fibrosis.” 

An estimated one in every 2,500 babies born in the UK has cystic fibrosis. Children experience a range of symptoms including a persistent cough, shortness of breath and frequent chest infections – caused by sticky mucus clogging their lungs and airways. 

Medications or physiotherapy can help ease symptoms but sadly, there is no cure. 

“There was a feeling of helplessness and shock – we felt very vulnerable and anxious,” Sarah remembers.  

Sophia’s condition needs constant, daily care: in addition to physiotherapy, Sophia needs  enzyme treatment to help her absorb nutrients and prevent malnutrition, three vitamins, antibiotics to help prevent infection and a drug called Orkambi. 

With both her children so young, Sarah makes Sophia’s therapy as family friendly as possible: “We put on nursery rhymes and sing. Thomas is always involved too,” she says.  

However, like any lively toddler, Sophia does not always want to have her therapy: “She doesn't always play ball which can be distressing for all of us as we know how important it is for her to do it,” Sarah says. 
 

Thankfully, Sophia is well most of the time and Sarah knows how lucky they are. But the impact of cystic fibrosis on family life is enormous - especially since many people do not understand how serious the condition is.  

“You have to discover a new normal,” Sarah says. “It is all about managing risk.” 

Aware that Action is supporting studies in Oxford and London to help children like Sophia, Sarah comments: “Research is a real lifeline and gives hope. Being able to fundraise or help with research is so important to feeling you’re making a difference.”