What is the Nublp: Elena Dellepiane’s rare disease, who died at just 18 years old

Elena Dellepiane died at 18: she was affected by the Nubpl, a genetically determined mitochondriopathy. She had become famous on social media, where mom shared her daily life on the “Diary of a rare mother’s diary”

Elena Dellepiane she died at the age of 18 due to the Nubplone very rare mitochondrial disease who accompanied her throughout her life. His story has moved thousands of people, becoming a symbol of a battle not only personal, but also collective, thanks to the tireless commitment of the mother Andrea in raising awareness of this pathology.

Elena was the only case in Italy of this particular genetically determined mitochondriopathy, a neurodegenerative disease that prevents cells from producing the energy necessary for the correct functioning of the organs. This involved a growth arrest And a series of complications, including muscle hypotonia, epilepsy, kidney and respiratory problems.

Despite the difficulties, Elena faced life with an extraordinary force, always supported by the love of her family and the warmth of the community that has tightened around her through social media. The story of his daily life was shared by the mother on the page “Diary of a rare mom“, A space that over time has become a point of reference for those who live similar situations.

The project “Il Sorriso di Elena” for the research on rare diseases

Through social networks, Andrea showed the reality of a little -known disease, sensitizing the public e Raising funds for research. It is thanks to these initiatives that the First multidisciplinary research project on the Nubpl In Italy, at the University of Verona, with the aim of better understanding the disease and developing possible treatments.

Elena has grown without particular problems up to 18 monthswhen a bronchopulmonitis led doctors to discover anomalies in its clinical tests. From that moment a long diagnostic path began which involved several hospitals and international research centers, up to confirmation of the disease in 2016. Despite the difficulties, her family has never surrendered, struggling to guarantee her the best possible support.

“Now you will sing with the angels“, The mother wrote in her farewell message, a last farewell that contains all the love and strength with which she faced this battle. Elena leaves a great void, but also an important legacy: the awareness that research on rare diseases must continue to be a priority. Elena’s memory will continue to live through the project “Elena’s smile”an initiative that wants to keep the hope alive for the future of research on rare diseases.