Philip's struggle began earlier than his first breath❗.

The fight for life began earlier than the first breath

Philip was born three weeks premature. The birth had to be induced due to serious flow problems - not only his health, but also his life was at risk. Despite the dramatic start, he got 10 points on the Apgar scale. Even then he showed what a strong boy he would be.

A small hole - a serious diagnosis

His parents noticed an unusual lesion on his sternum. At just two months old, Philip heard the diagnosis: a funnel-shaped (suture) chest, with visible pressure on the lungs and heart. Doctors immediately implemented tests and observation. Soon there were more alarming symptoms - weakened immunity, frequent infections, no improvement despite treatment. When Philip was just a year old, a CT scan was required, and soon after, rolling immunoglobulins every month to at least partially protect his body.

The diagnosis that turned the world upside down

At just two years old, Philip underwent surgery for a herniated white line - another sign that his body was not developing as it should. For his parents, this was a watershed moment. They already knew they had to act on their own. Unable to wait any longer for the system's next decisions, they decided to carry out advanced genetic testing on their own, which could shed light on the cause of all the problems so far. The choice fell on the "207 genes for immune disorders" test, a test that analyzes a broad spectrum of potential mutations affecting the immune system.

The result turned out to be a breakthrough - Philip was diagnosed with a mutation in the PIK3R1 gene, responsible for Activated PI3K Delta Syndrome (APDS) primary immunodeficiency type 2. It was no longer just a theory - finally there was a name, a diagnosis, a reference point. Unfortunately, with this information also came the painful realization that Philip and his family face many more challenges than previously thought.

This mutation not only weakens immunity, but is also associated with a number of serious health consequences - defects in chest structure, increased risk of cancer, the possibility of visual impairment, and the need for comprehensive and ongoing lifestyle modifications, including avoidance of infections, frequent check-ups and interdisciplinary medical care.

Thanks to the support, it was possible to perform the WES trio test, which additionally revealed a mutation in the MECP2 gene. For now, it is unknown how this mutation will affect Philip's further development and health - specialists are still analyzing possible scenarios.