Alex will be one year old in October. The investigation was triggered by a prolonged jaundice that has not gone away even after two months of age. Blood tests showed abnormally high liver function values. The local paediatrician was thorough and sent Alex for further tests at the hepatology department. There, his CK levels were measured twice - both times they were found to be extremely high: first 19,000 and then 11,000.

These signs suggested something more than just a liver problem. Doctors became suspicious and after consultations, Alex was referred to the Rare Genetic Diseases Unit. Unfortunately, genetic testing confirmed the suspicion: he was diagnosed with Duchenne muscular dystrophy. This is a severe, rare genetic disease that gradually weakens the muscles, making movement and other life functions increasingly difficult over time. A second opinion was sought, but unfortunately the result was the same.

But Alex knows nothing about this. He just smiles happily when he can squeeze his daddy's finger or cuddle with his mummy. He's surrounded by his family's love and willingness to fight - and they hope that together, science, solidarity and care can slow the progress of the disease. Because Alex has only just begun his story - and everyone is working to make it as long, happy and full as possible. 

Let's help Alex and his family together!