A woman has died aged just 18 after living with an extremely rare disease that saw her effectively trapped in the body of a child.

Elena was diagnosed with a rare genetic disorder called NUBPL mitochondrial disease in 2016. Most people with the condition have problems including seizures, intellectual disability and ataxia – a neurological condition that causes a lack of muscle coordination, and for Elena it meant she struggled to grow.

Due to complications caused by the disease, many of her organs did not function properly, and she died in hospital surrounded by her family at the end of her life. According to the Journal of Medical Genetics, there have only been 18 known cases worldwide, as of 2020. Elena had the only known case of NUBPL in her home country of Italy.

On Friday, February 7, Elena’s mum Andreea, updated her online followers on her situation as she spent time in hospital. And while there is no treatment for NUBPL, the message radiated positivity. Andreea said: “You are our life – mine and your dad’s. Keep on fighting, princess. First day of targeted care, gone. Tomorrow we start again towards a bright smile like yours, you will conquer it again. Keep going, as you know how to do.”

But on Sunday, February 9, shared another emotional message alongside a photo of Elena smiling. It read: “Elena, darling I want to remember you with this smile. Now you will be singing with angels. Your family will love you forever. One day we’ll see each other again.” Her followers were quick to leave messages of love and support.

Elena died at a hospital in Genoa, the city where she lived with her mum, Andreea, dad, Paolo Delle Piane, brothers, Daniele and Luca, and her youngest sibling Vittoria. Her funeral took place yesterday at the Evangelical Church of Genoa.

Get email updates with the day’s biggest stories