Rachele's Story

The First Signs

Rachele is an 8-year-old girl, cheerful and full of life. Everything seemed to be going normally until her eyes began to tell a different story: small vision problems and unexplained difficulties that initially appeared to be moments of distraction or insecurity led her parents to seek medical advice. Eye examinations revealed significant abnormalities, marking the beginning of a complex journey in search of answers.

The Diagnosis

After months of tests and medical evaluations, in May 2025, at the A. Gemelli University Hospital in Rome, the diagnosis was confirmed: Rachele is affected by Batten disease, CLN3 variant (neuronal ceroid lipofuscinosis type 3). Genetic testing revealed a homozygous deletion of exons 8 and 9 of the CLN3 gene, consistent with the juvenile form of the disease. The diagnostic process was initiated thanks to the insight of a clinician experienced in rare diseases of the visual system, after repeated ophthalmologic exams showed a rapid loss of vision. Batten disease is an ultra-rare, genetic, neurodegenerative disorder that, over time, deprives children of vision, motor and cognitive abilities, communication skills, and ultimately puts their very lives at risk.

Hope

While the disease is severe and progressive, the early diagnosis opened a door. Today, the international scientific community is actively working on potential treatments, and experimental clinical trials are underway in the United States, using gene therapies and innovative medications capable of slowing the progression of the disease. Rachele has been enrolled in one of these treatment pathways and is awaiting the start of therapy. It is a precious opportunity: acting now means protecting the abilities she still has, gaining time, and offering a future.

The Challenge

Per questo è nata HOPE4U INSIEME CONTRO BATTEN APS: per sostenere Rachele e la sua famiglia, raccogliere fondi, creare una rete di solidarietà e far sentire che non sono soli.

A Future to Protect

Rachele’s story is not just a diagnosis written on a medical report. It is the story of a child who loves life, being with others, and playing; of a family that refuses to give up; and of doctors who chose to believe in research. It is a story that reminds us of a fundamental principle: no child affected by a rare disease should ever be left behind.

You can support us with a donation via bank transfer:

Account holder: HOPE4U INSIEME CONTRO BATTEN APS

C.F.: 92022830548

IBAN: IT10V0344038480000000266600

Bank: Banco Desio

Donation purpose: Donazione