Rare Disease Day 2018 – Meet Enzo

Enzo is the youngest star of this year’s Rare Disease Day video and has just turned 5. (Like me) He also 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 (Ptosis) and Cindy, his mother, says that she is often told that he looks tired and that he needs rest by people in the street (that’s something that I am very familiar with too – that or that I look drunk, which is odd as I don’t drink!!!). 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.

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. (Again something very similar to what my parents went through for many years too, despite the many symptoms and issues, because the doctors weren’t aware of the condition they didn’t believe it existed!) 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. (It took 16 years for my first diagnosis and this only came from a ‘complication’ with anaesthetic – malignant hyperthermia where I technically died in the operating theatre – which led them to realise that YES there was an actual issue with my muscles, which led to a batter of tests during a 6 month stint in hospital, including muscle biopsies, and an eventual diagnosis of congenital myopathy before, many years late, congenital myasthenia.)

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.

(Enzo, like all kids with CMS – and I have met many of them, including one of my own – is definitely a hero!)

https://www.rarediseaseday.org/videos

#ShowYourRare

Main text comes from Rare Disease Day and text in brackets is my own.