Matilda’s mum Kirsty first noticed something was wrong with her daughter in early 2020 after she bumped her head at a party. At just two years old, Matilda’s bruise initially disappeared but later reappeared, gradually enlarging and becoming indented.
We try to talk about it a lot and never lie to Matilda about what’s happening. We didn’t want to talk about scleroderma at first, but I think that made it scarier. Now we try to be more open about it to help Matilda feel more comfortable
Kirsty first noticed something was wrong with her daughter, Matilda, in early 2020 after she bumped her head at a party. At just two years old, Matilda’s bruise initially disappeared but later reappeared, gradually enlarging and becoming indented. Over time, Kirsty observed her daughter losing hair around the affected area. Despite multiple visits to the GP and attempts to get urgent appointments, her concerns were dismissed, especially during the COVID-19 lockdown when access to healthcare was limited. Kirsty recalls taking her to the pharmacy and consulting the pharmacist, who advised seeing a doctor, but lockdown restrictions made that difficult.
Matilda experienced another bump in the same spot, which heightened Kirsty’s worries. When she finally saw a GP, she was told it was probably just another bump. However, Kirsty’s instincts told her otherwise. The bruising persisted, and by September 2021, it had become indented, prompting a referral to Alder Hey Hospital’s paediatric team. The hospital appointment was disappointing: a long wait, minimal attention from the doctor, and no clear diagnosis. Frustrated, Kirsty returned to her GP, who arranged a CT scan, but it showed nothing abnormal.
Matilda’s condition worsened, with hair loss along her hairline and scaly skin resembling cradle cap. A dermatologist at Alder Hey suspected scleroderma, informed by a colleague’s research. This led to a swift referral to a rheumatologist, where Matilda was diagnosed with scleroderma in December 2021, on her third birthday.
We went to the dermatologist at Alder Hey and he was confident he knew exactly what it was. He warned us that if he was right, we would have a long, hard road ahead, but at that moment I was just so relieved that someone knew what it was. That I wasn’t being paranoid or overcautious.
The diagnosis came just before Christmas, and treatment began immediately, including IV steroids and regular injections of methotrexate and abatacept, which had to be imported from Germany. Looking back, Kirsty says her GP tried to help as best he could, but the main issue was a lack of awareness and understanding of scleroderma.
Our GP was lovely and he did his best, but he had just never seen scleroderma before and didn’t know what it was. He called me after Matilda had gotten her diagnosis to apologise. He said that he’d worked as a doctor for 40 years and had never seen it before, but had now gone away and researched scleroderma to find out more about it.
Matilda’s treatment has been challenging, involving hospital visits, blood tests, and painful injections, often administered while she’s asleep to minimize distress. While she responds well to medication, she faces ongoing fatigue, self-consciousness, and emotional strain. Kirsty emphasises the importance of honesty and preparation in managing her daughter’s condition, along with support from hospital staff. Reflecting on her journey, Kirsty highlights the lack of awareness about scleroderma among healthcare professionals, noting that many nurses and doctors are unfamiliar with the disease. She hopes increased education will lead to earlier diagnosis and better care for children like Matilda.