Stories

Our Jazmín was 16 years old, when her heart said enough on the 6th of June this year. She was 13 years old when she was diagnosed with MELAS, a mitochondrial disease with no cure, a rare mutation in my country.

Tucker James Dupré was diagnosed with POLG at 18 months old, after having multiple seizures. Tucker went into status epilepticus just two weeks before his 2nd birthday, resulting in him having a metabolic stroke.

Ellie was a fighter from birth. Born in October 2017, a lack of oxygen at birth meant she needed to spend the first week of life in intensive care. This early battle in life would later be a blessing in disguise as it meant she required regular neurological reviews to review how her brain and movement developed. Ellie’s early months were mainly happy. She cried, babbled and smiled like any baby does and loved baths with her big sister, kicking her legs to music and chatting away with her mum and dad.

Matei was born on August 5th 2018, being an extremely healthy child. He has had an exciting development period. From the newborn to an active toddler he reached all the milestones that a child is doing. He was laughing so much, and, he was enjoying so much making others laughing. Before choosing his name, we called him “Happy”.

Sara è giovane, ha 26 anni e vive a Padova insieme alla famiglia: i genitori e la sorella più piccola. Ha un’autonomia limitata nel camminare o nel fare qualsiasi attività fisica a causa di una malattia mitocondriale che la rende intollerante allo sforzo.

Tutto è iniziato il 17 dicembre del 2011, quando sono stata ricoverata d’urgenza per un’emergenza grave, il disseccamento della carotide. Sono stata in ospedale per tre mesi senza che però sia emerso il sospetto della mia malattia.

Margherita, 42 anni, ragioniera, lavorava in un negozio di arredamenti industriali. Ha smesso quando è arrivato Peppone, suo figlio, che lei racconta così: Peppone è bello come il sole, è pacioccoso.

Mio figlio si è ammalato quando aveva vent’anni non ancora compiuti, la diagnosi era neuropatia ottica ereditaria di Leber (LHON), una malattia mitocondriale che colpisce il nervo ottico.

I had never heard of mitochondrial disease until 3 years ago. My journey started when my mother experienced a rapid decline in health, losing muscle in most parts of her body and struggling to breathe. Her, my older brother and I all experienced hearing loss at a young age