Stories

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

Maddie’s journey began in 2011. Her mother, Sara, quit her job to stay at home to take care of their new baby. Sara could tell something wasn’t quite right with her daughter. Being with Maddie all day allowed Sara to track Maddie’s changes, but she couldn’t put her finger on what was wrong

Garry Kruger didn’t understand what was happening, but he does remember that his symptoms started in 1999. He was experiencing leg and foot pain, lower back pain and he noticed that his eyelids appeared to be drooping

Joe was looking toward a bright future. While in high school, he remembers that life revolved around hanging out with friends and playing sports. Joe was at the top of his class in academics, was on his varsity soccer team and was the captain of his robotics team. It was in the robotics lab at school when Joe realized something just wasn’t right with his vision.