Elena Dellepiane, the sole Italian case of the rare Nubpl disease, passed away on February 9 at the age of 19, leaving behind a legacy of hope and awareness for those affected by rare diseases. Her tragic story, marked by the devastating effects of Nubpl—a rare mitochondrial genetic disorder—moved many, especially through the social media platform Instagram, where her mother Andreea chronologically documented their battle against this debilitating illness.
Nubpl, which stands for NLRP3-associated autoinflammatory disease, is caused by mutations affecting DNA, which hampers the cells' ability to produce necessary proteins for energy. This genetic flaw rendered Elena's growth stunted, rendering her body and mind trapped in the state of childhood even as she approached adulthood. Throughout her life, Elena battled severe health challenges compounded by her condition, including significant cognitive delays and physical limitations.
"Ora canterai con gli angeli, la tua famiglia ti amerà per sempre," Andreea wrote on her Instagram account "Il diario di una mamma rara" (The Diary of a Rare Mom), marking her daughter’s passing with poignant words. This account, which boasted thousands of followers, served not only as a digital chronicle of their experiences but also as a pivotal platform for raising awareness and funding for research on Nubpl.
Andreea had previously expressed the uniqueness of Elena's case. "Essendo l'unico caso in Italia - non esiste alcuna casistica, nessuna possibilità di confronto," she explained, underscoring the rarity and severity of the situation. Elena was known as not only the only Italian case but also one of only 25 known cases worldwide, making her story all the more significant.
Despite her illness, Elena was renowned for her infectious spirit and her love for life, music, and creativity. Her social media presence highlighted her artistic endeavors, where she often shared her love for sewing and design. Just last year, she celebrated her 18th birthday with a grand party, showcasing her self-designed princess dress, which became emblematic of her struggle and determination.
Elena's deteriorated health led to intensive hospital stays; she was recently admitted to the Gaslini Hospital in Genoa for final treatments. Leading up to her hospitalization, Andreea announced on social media, "Primo giorno di cura mirata andato - continua a combattere, avanti tutta come tu sai fare." (First day of targeted treatment went well - keep fighting, as you know how to do.) This reflection showcased the immense fight Elena had within her, even as her family grappled with the heartbreaking reality of her condition.
The community surrounding the Dellepiane family was not only supportive but actively involved. Local initiatives, such as the fundraising project "Il sorriso di Elena" (Elena's Smile), were established to raise funds for research on the disease, eventually paving the way for the first multidisciplinary research initiative on Nubpl at the Department of Diagnostics and Public Health at the University of Verona.
Tributes poured from across the community after the announcement of her death. Marco Macrì from Genova Inclusiva expressed the sentiments shared by many: "Ciao, piccola. Che la terra ti sia lieve." (Farewell, little one. May the earth be light upon you.) Alongside personal messages from friends and family, many shared their grief at losing such a shining light, adding to the her legacy of inspiring strength.
Elena's story serves as not just one of personal struggle, but as a call to action for increased awareness and support for rare diseases. Her family's relentless pursuit for research funding highlights the gaps still present within the medical community for rare conditions. By sharing her and her family's story, the hope is to not only honor her memory but to shine light on the importance of research—giving future patients the hope they deserve.
Despite the sorrow surrounding her passing, Elena Dellepiane's strength and spirit will continue to resonate with many—reminding them to celebrate life, love fiercely, and never abandon hope. Her legacy is one of love, resilience, and the unbreakable bond between family; qualities now immortalized through her mother’s heartfelt messages and the impact they have created together.