‘Chest infections’ were something far more serious
IT ALL started when Jasper was just eight months old. He was lethargic, had a high temperature, and wasn’t eating – typical signs of a viral infection that many young babies experience.
But that sparked the beginning of five years of doctors and hospital visits where Jasper, from Mumbles, was repeatedly prescribed antibiotics for chest infections – a course of 50, to be exact.
He even underwent a tonsilectomy to address the “kissing tonsils” he had in the hope it would help minimise his almost continuous cough.
He couldn’t enjoy walks with his parents, Sophie and Matthew, he wasn’t able to go on play-dates in case he choked, and he was almost always tired.
Mum Sophie, who asked us not to reveal her surname, knew that something was not right, it was “not normal” to be prescribed the amount of antibiotics that he had been, but medics could never get to the bottom of what was making him ill.
After five years of this, Jasper’s consultant, Dr Huma Mazah, decided to refer Jasper to the immunology team in Cardiff after he had his childhood booster as his body failed to produce a reaction to it. The team there made his life-changing diagnosis.
Sophie said: “Previously, he endured approximately six – eight hospital admissions annually, coupled with a continuous monthly prescription of amoxicillin for five consecutive years.
“However, since commencing treatment, Jasper has not experienced a single hospital admission, and his reliance on antibiotics has dramatically decreased.
He now enjoys uninterrupted nights of sleep, exhibits a robust appetite, relishes outdoor activities at the park, and, for the first time since his treatment began, engages in play-dates with his friends.”
Jasper, now six, was diagnosed with an incredibly rare condition, so rare that he is the only known child in Wales, called APDS P13KD. It is an immunodeficiency disease. He started treatment last August which has drastically improved his symptoms, but he will eventually have a bone marrow transplant to cure the condition.
It was a long road to Jasper’s diagnosis due to the way he presented at the hospital and to doctors.
Sophie explained that he would often present “clinically well”, jumping around and being a typical little boy, and his vitals would be fine. But X-rays would almost always show bilateral pneumonia (in both lungs).
“He was walking around for five years with bilateral pneumonia,” Sophie said. “It was just sitting on the lungs. I would call him the walking child with pneumonia because he would just be walking around with it.
“It affected him as a child hugely, his behaviour, we couldn’t go out for a walk, just a simple walk, because he would come back and start coughing.”
Jasper’s enlarged tonsils also complicated the issue, often obstructing his airways and making it “impossible for him to eat solid meals”.
Sophie explained that Jasper was on a diet of powdered cheese and broccoli for almost two years.
She said that his condition results in enlarged lymph nodes, which explained the large tonsils. He underwent a tonsilectomy in 2022.
Sophie said Jasper has taken all his health challenges incredibly well, and described him as having “an old man’s head,” adding: “He is so wise.”
The charity Immunodeficiency UK has also provided support to the family, and has provided information leaflets that describe the condition and the treatment in a way that children can understand it, which has been useful for Jasper in school.
“He’s knows it is helping to keep him out of hospital,” she said.
Sophie has decided to support the charity by carrying out a fundraising hike of 135 miles around Anglesey later this month with her friend Nicky.
She said: “Jasper’s mutation of APDS is so rare, we wanted to make it aware that living on antibiotics, constant chest infections and sleepless nights in the hospital isn’t normal and to trust your gut if you know something isn’t right.
“We’ve still got a journey ahead of us, but since Jasper’s weekly immunoglobulin replacement treatment has massively improved our lives, Jasper is now a happy-go-lucky thriving six-year-old and we as a family can plan ahead and don’t have to be on edge every time he leaves the door.”