A teenager with a remarkably rare condition that means her body fails to age has died after suffering multiple organ damage caused by the disease.
Elena, an 18 year-old from Italy, was one of just 18 people in the world known to suffer the genetic disease, called NUBPL mitochondrial disease.
She received her diagnosis aged 10 in 2016, making her the only known case in her home country of Italy.
The disorder causes catastrophic mutations to DNA that stops the body developing properly, meaning bones, muscles and other tissues are malformed.
Typically people with the disorder, which also affects the brain, suffer seizures, intellectual disability and ataxia — a neurological condition that describes a lack of muscle coordination, resulting in clumsy movements.
The NUBPL Foundation explained that these symptoms can start in children between 3 and 18 months old.
Throughout her life, Elena weighed very little, struggled to grow and many of her organs including her lungs and bowels did not function properly.
In a gofundme page that raised €94,700 for a research project on the disease led by the University of Verona, Elena’s mother Andreea explained that at age 15, Elena weighed just 15kg (just over three stone) and was 3ft7in tall.
Elena passed away four days ago, on 7 February, at the Gaslini Hospital in Genoa, Italy , where she was being treated for a rare genetic disorder called NUBPL mitochondrial disease
The 18-year-old received her diagnosis aged 10 in 2016, making her the only known case of NUBPL in her home country of Italy
She added that Elena had to be given a drip of mineral salts every three to four hours and suffered a lung disease that causes scarring and shortness of breath.
Despite her battle against the disease, Elena still found time for her passions which included music and sewing, reported Vanity Fair.
Her mother shared images of Elena and her siblings enjoying their hobbies alongside hospital trips with her 220,000 followers on Instagram.
On her daughter’s 18th birthday, she shared a short video showing Elena and her siblings growing up.
She said in a caption: ‘You have shown everyone that with determination and the will to live you can go far.
‘You have challenged and you are challenging your diagnosis every day with the love of life.’
Andreea updated her followers on her daughter’s health as she spent time in hospital.
Although there is no treatment for NUBPL, the message radiated positivity.
‘You are our life – mine and your dad’s,’ Andreea said.
‘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.’
On 9 February, an emotional message was shared by the mother-of-four alongside a photo of Elena smiling.
‘Elena, darling I want to remember you with this smile,’ the caption reads.
‘Now you will be singing with angels. Your family will love you forever. One day we’ll see each other again.’
Elena died at a hospital in Genoa, the city where she lived with her mother, father, Paolo Delle Piane, brothers, Daniele and Luca, and her youngest sibling Vittoria
Andreea’s followers were devastated and quick to leave messages of love and support
Her followers were devastated and quick to leave messages of love and support.
Elena died at a hospital in Genoa, the city where she lived with her mother, father, Paolo Delle Piane, brothers, Daniele and Luca, and her youngest sibling Vittoria.
Her funeral took place on February 11 at the Evangelical Church of Genoa.
The disease is extremely rare, but the NUBPL Foundation is fighting for greater awareness via a Facebook page that’s attracted 1,600 followers.
One mother, Alison Large, who fundraises for the cause, took to the page to share that her son Carter, 9, had been hospitalised due to the condition more than 40 times.
Another mother, Cristy Byers-Spooner, posted that her daughters Cali and Ryann both have the extremely rare disease.
‘Sadly we have no treatments to help them. We have no cure to cure them. So we fight for research. We network with families to discover more beautiful children who share their diagnosis,’ she said.
[Notigroup Newsroom in collaboration with other media outlets, with information from the following sources]
