My name is Sophie, and I’m the proud mother of my resilient 6-year-old son, Jasper. In August 2023, after a five-year battle, he was diagnosed with a primary immunodeficiency (PID) called APDS. Jasper’s specific mutation, PIK3CD gene, makes him the only known child with this diagnosis in Wales. 

Jasper’s journey began at just 8 months old when he started showing concerning symptoms: tiredness, constant high temperatures, and loss of appetite. We spent countless hours with doctors and tried rounds of antibiotics, but nothing seemed to help. 

For five years, Jasper showed incredible strength, adapting to life with a mysterious illness. But the hardest part was that when we’d take him to the hospital, despite how unwell he was at home, he’d often seem healthy – even dancing around the room! At times, I felt like I wasn’t being believed as a parent, even when I knew something was seriously wrong. It was only thanks to the tireless advocacy of his consultant, Dr. Mazah, that we were finally referred to the immunology team. 

Under their care, everything changed. Before treatment, Jasper was in the hospital about six times a year and on constant antibiotics. Since starting his specialised care, he hasn’t been hospitalised once and his need for antibiotics has dropped dramatically. He sleeps through the night, has an amazing appetite, and loves playing with his friends at the park – something we couldn’t imagine before! Now, he even goes to gymnastics and dance without missing a single class. Our whole family’s life has improved immeasurably. 

Thank you to the immunology team whose dedication to Jasper has given him a chance for a healthier, happier future. Thank you for letting me share our story. 

Posted March 2024

You can find out more about APDS here.