Life is unpredictable, and for some, it presents unimaginable challenges.
Elena, an 18-year-old from Italy, lived with a rare genetic disorder that kept her body from aging properly.
Though her condition made everyday life difficult, she never let it define her.
Her story is one of resilience, love, and the fight for awareness.
A Rare Condition That Changed Everything
Elena was one of only 18 people worldwide diagnosed with NUBPL mitochondrial disease, a disorder that affects DNA and prevents the body from developing properly.
Diagnosed at age 10 in 2016, she was the only known case in Italy.
The disease impacted her muscles, bones, and organs, leading to severe growth limitations.
Children with this condition often experience seizures, intellectual disabilities, and ataxia—a neurological issue causing poor muscle coordination.
Elena faced these struggles daily, but her spirit remained unbreakable.
A Mother’s Unwavering Support
Elena’s mother, Andreea, documented her daughter’s journey, sharing updates with over 220,000 followers on Instagram.
She described how Elena, at 15 years old, weighed only 15kg (just over three stone) and stood just 3ft7in tall.
Due to organ dysfunction, she required a continuous drip of mineral salts and suffered from a lung disease that made breathing difficult.
Despite these challenges, Elena never lost sight of her passions.
She loved music and sewing, activities that brought her joy amid her health struggles.
Her mother often posted heartwarming images of Elena with her siblings, capturing moments of love, creativity, and strength.
A Celebration of Determination
On her 18th birthday, Andreea shared a touching video showcasing Elena’s journey alongside her siblings.
She expressed her pride in her daughter’s determination to live fully, despite her diagnosis.
“You have shown everyone that with determination and the will to live, you can go far,” she wrote.
“You are challenging your diagnosis every day with your love of life.”
Even as her health declined, Elena’s optimism shone through.
Her mother’s updates reflected hope and encouragement, urging her daughter to keep fighting: “Tomorrow we start again towards a bright smile like yours—you will conquer it again.”
A Heartfelt Goodbye
On February 9, Elena’s mother shared a final message along with a photo of her daughter smiling.
“Elena, darling, I want to remember you with this smile,” she wrote.
“Now you will be singing with the angels. Your family will love you forever. One day, we’ll see each other again.”
Elena passed away in a hospital in Genoa, surrounded by her loved ones—her mother, father Paolo Delle Piane, her brothers Daniele and Luca, and her youngest sister Vittoria.
Her funeral was held on February 11 at the Evangelical Church of Genoa, where family and friends gathered to honor her memory.
Raising Awareness for NUBPL
Though rare, NUBPL mitochondrial disease affects families worldwide.
The NUBPL Foundation continues to push for greater awareness, connecting affected families through a Facebook page with over 1,600 followers.
Parents like Alison Large, whose son Carter has been hospitalized more than 40 times due to the disease, are advocating for more research.
Another mother, Cristy Byers-Spooner, shared that both of her daughters, Cali and Ryann, live with the condition.
“Sadly, we have no treatments to help them, no cure to save them. So we fight for research.
We network with families to discover more beautiful children who share this diagnosis.”
A Legacy of Strength and Love
Elena’s story is a testament to courage in the face of adversity.
Her family’s unwavering love and advocacy inspire others battling rare diseases.
Though she is no longer here, her legacy lives on, fueling the fight for awareness, research, and hope for those diagnosed with NUBPL mitochondrial disease.
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