Caring for a child, let alone children, with a chronic illness is an overwhelming responsibility. For M, a single mother of three, this is her reality. Both her 16-year-old daughter and 14-year-old son received a delayed diagnosis of cystic fibrosis (CF). Her resilience, unwavering commitment and adaptability have defined her journey as a carer, as she has navigated the complexities of her children’s diagnoses, treatments, and daily care routines.
The Journey to Diagnosis
M’s eldest daughter, L, was identified as a carrier of the ΔF508 gene at birth (meaning she had 1 copy of the gene rather than 2). A buccal swab, blood tests, and a sweat test (which yielded a borderline result of 30) suggested she was a carrier and wasn’t given the formal diagnosis of CF. However, as she grew, her health raised concerns. At just two and a half years old, L was hospitalised for ten days with bronchiolitis, marking the beginning of years of hospital visits and clinical uncertainty. Despite frequent interactions with doctors and specialists, her worsening condition remained unexplained.
During a particular hospital admission at the age of 5, a CT scan revealed that she had bronchiectasis – a lung condition where the airways (bronchi) become widened and thickened. As time continued, her health steadily deteriorated. At 10 years old, the genetic test, now more advanced, was repeated. CF is a recessive condition, so in order to receive a diagnosis, both copies of the gene are required. During this second test, the missing gene was found in another part of L’s DNA. She was therefore given the diagnosis of CF.
For M, the diagnosis brought a mix of emotions. Relief, because it validated her concerns and provided access to essential CF support systems, but also frustration, knowing that an earlier diagnosis could have potentially prevented much of L’s lung damage. “I would have wanted the diagnosis on Day 1…because we could have prevented a lot of that bronchiectasis.”
Her son, D, followed a similar path, though with less symptoms than his older sister. Initially, he, too, was identified as a carrier of the ΔF508 gene, with a sweat test on the high end of normal. Unlike his sister, he remained relatively well. However, at nine years old, his sweat test results rose into the 50s, leading to a formal CF diagnosis. Given L’s journey, M had suspected it all along.
Daily Life
The CF diagnosis in both children transformed M’s and her children’s daily life. It meant long physiotherapy sessions, multiple nebulisers, washing each piece of the equipment separately, and arduous treatment regimens spanning multiple hours a day. “You feel guilty when you don’t do certain things [physio],” she admits. Despite the exhaustion and the seemingly endless responsibilities, she was able to form a routine. “It’s amazing what you can adapt to. I would never have thought I would be able to just do it. You surprise yourself—what feels so difficult at the beginning, with time, practice, and support, you make progress.”
Trikafta, a groundbreaking CF treatment, was released in early 2022. This became a turning point for many families including M’s. L started the medication as soon as it became available, and D followed shortly after becoming eligible. The results were remarkable. “She hasn’t had an admission since she started it. That would have never happened before Trikafta.” The burden of physiotherapy eased, and the sense of constant stress lessened.
Support Networks
Beyond the physical demands of caring for two children with CF, the emotional toll was significant. As a single parent, M carried the full weight of responsibility. “The realisation that it was me or no one meant that there was a lot of responsibility,” she reflected. “You have to, because there was nobody else. You just have to keep going.”
The pressure to ‘get it right’ was immense. “Looking back on it, you realise how much you have grown and learned from it.”
M found strength in the CF team at Perth Children’s Hospital. The nurses, specialists, and psychologists became vital pillars of support. She was also able to learn more about what CF entailed through CFWA and many other such support groups. As a carer, she recognised the importance of addressing not just the physical but also the emotional needs of her children. The mental toll of chronic illness was significant—missing school, missing social events, and at times spending hours on physio but seeing no improvement in lung function – “it can be demoralising”.
Fortunately, L had a group of supportive friends, some of whom also had chronic health conditions themselves. Their visits during hospital stays and their understanding of her struggles provided her with a sense of normalcy and belonging. The school was also able to tailor assessments and lessons to L’s needs and health.
M’s story is one of resilience and unwavering dedication. Though the path has been challenging, she has met it with courage, constantly adapting and growing alongside her children. “On Day 1, it’s a difficult journey, but with time, practice, and support, you make progress” she reflects. M has been and continues to be the pillar of her family, supporting the needs of her children.