Enzo is the youngest star of this year’s Rare Disease Day video and has just turned 5. He lives with Congenital Myasthenic syndrome, a neuromuscular disease, which affects the strength of his muscles. Congenital myasthenic syndromes affect the way the motor nerve controls the movement of the muscles which act. As a consequence Enzo’s eyelids remain half closed and Cindy, his mother, tells us that she is often told that he looks tired and that he needs rest by people in the street. Because of how the rare disease affects his muscles, Enzo fatigues easily and so uses a wheelchair most of the time, though he loves to walk for short distances where possible.
Struggle for Diagnosis
Enzo was diagnosed with his rare disease 5 months after he was born and spent much time in hospital where he was misdiagnosed or even told that he was not ill at all. At one point Cindy was even told that she was ‘crazy’ but, knowing that something was not right, she persisted and, after moving hospital, managed to find Enzo’s diagnosis within 3 days. The struggle to be diagnosed is something common to rare disease patients due to the lack of knowledge of the symptoms and consequences compared to more common diseases.
Day to Day care
However after Enzo was diagnosed with Congenital Myasthenic syndrome, the next challenge was finding people to help with the care aspect. Finding a physio for Enzo was difficult with his specific rare disease, again due to the lack of knowledge. Cindy had to put her job to one side as she looked to find the best form of daily care for Enzo, whilst also considering the needs of his older sister, and keeping up with the paperwork needed to ensure Enzo kept all of his rights to care. Day to day he has to take medicine at fixed times and twice a week has physio sessions to improve his muscle strength. Due to the scoliosis caused by Congenital Myasthenic syndrome he has sessions to improve his lung strength.
Despite all this Enzo remains a boy who can’t stop smiling! One of his main interests is the world of cinema and music and so he was very excited to appear in the campaign video. He has met many celebrities including Kendji Girac, Helene Segara, Claudio Capeo and Mimie Mathy. That said he still hasn’t met his favourite celebrity of all, Spiderman, though to Cindy he is her own superhero.