My name is Sophie, and I am the mother of my resilient 6-year-old son Jasper. In August 2023, after a prolonged five-year battle, Jasper was diagnosed with immunodeficiency called APDS. Jasper’s specific mutation, P13KD, makes him the only known child with this diagnosis in Wales. From the age of 8 months, Jasper exhibited concerning symptoms, including lethargy, persistent high temperatures, and a lack of appetite. Despite numerous encounters with healthcare professionals and having a minimum of 50 rounds of antibiotics, as his condition persisted.

Over the subsequent five years, Jasper's resilience became evident as he adapted to his challenging health circumstances as he bounces around medical settings .

Before Jasper's tonsillectomy in October 2022, he had enlarged kissing tonsils which had resulted in obstructing his airways, causing continual coughing and making it impossible for him to eat solid meals, resulting in a diet of powdered cheese and broccoli dinners for nearly two years. Any attempt at solid food resulted in regurgitation until the tonsillectomy.

It became increasingly difficult to convey the severity of his condition to medical professionals, as he often presented as "clinically well" during hospital visits (dancing around loud and proud around the room) This paradox led to multiple instances where as a parent, intimately familiar with my child, I sought emergency care, only to face skepticism due to Jasper's seemingly normal vital signs. However he was walking around for 5 years with bilateral pneumonia. It was through the unwavering advocacy of his consultant, Dr. Huma Mazah, that we finally started to unravel the complexities of Jasper's health that led to the immunology team.

Under the care of our dedicated immunology team in Cardiff, Jasper's journey has taken a transformative turn. 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 playdates with his friends.

Our profound gratitude extends to the immunology team whose commitment to thorough investigations and innovative treatments has not only improved Jasper's life but has also paved the way for a brighter and healthier future.

As many of you have known the struggles we have faced as a family, and whilst I started my Welsh Coastal Path adventure before any diagnosis, myself and Micky will be hiking several events from

Pen-Y-Fan on the 14th April, the 7 Lake District Peaks in September but our Mighty Hike of 135 miles around Anglesey from May 11th with the aim to raise funds and awareness of Immunodeficiency.

Jaspers 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 Jaspers weekly immunoglobulin replacement treatment has massively improved our lives.

There is also our Facebook page should you wish to follow - Sophie & Micky’s Mighty Hike for Immunodeficiency UK

Thank you for reading our story and for any donations towards our Mighty Hike 💪