There is a quiet resilience in young children — a laugh that fills a room, a small hand seeking comfort, a future imagined in the gentle promise of tomorrow. For three‑year‑old Aleks Drobnjak from Kranj, however, the rhythm of childhood has been interrupted by something few families ever face: a rare, life‑threatening genetic disease that advances with every passing day.
Last March, Aleks was diagnosed with spastic paraplegia type 56 (SPG56), an extremely rare neurodegenerative condition caused by a mutation in the CYP2U1 gene. Worldwide, fewer than a few dozen children are known to live with this condition, which progressively weakens muscles and, over time, can rob a child of the ability to walk, sit, stand, speak — and even to think clearly.
His parents, Tina and Radoš Drobnjak, recall the shock of the diagnosis — how quickly their joy turned to fear, and how helpless they felt watching their son struggle with tasks other children take for granted. What began as an ordinary infancy, with steps toward walking and playful exploration, gave way to rapid regression that left the family seeking answers they never expected.
For years, SPG56 had no known treatment at all — until recently. Scientists affiliated with an Australian foundation and an international research team developed the first gene therapy for this rare condition, known as AAV9‑CYP2U1, offering a glimmer of hope where none had existed before. In clinical studies, this treatment aims to halt the progression of the disease by introducing a healthy copy of the defective gene into the body’s cells.
Aleks is eligible to receive this therapy as part of a clinical trial at Gazi University Hospital in Ankara, Turkey. It represents his only realistic chance to arrest the relentless progression of SPG56 and preserve what remains of his mobility and cognitive function. But scientific breakthroughs are often costly — the total expense for Aleks’s treatment is estimated at €600,000, and it is entirely self‑funded, with no coverage under Slovenia’s standard healthcare benefits.
The clock is unforgiving. Because the disease advances quickly and the treatment is currently available to only a few patients worldwide — shared among children with this identical mutation — Aleks’s window for receiving it is narrow. His parents have been given just two months to raise the necessary funds, or the opportunity could be lost forever.
With support from Društvo Viljem Julijan, the family has launched a nationwide fundraising campaign, appealing to the compassion of strangers — the neighbors in Kranj, the communities across Slovenia, and anyone moved by the idea that a young life might be transformed by modern science and collective goodwill.
Aleks’s story is one of urgency and hope, of a family fighting against time and odds that would overwhelm even the strongest among us. Each contribution, they say, brings a chance for their son to grow, to laugh, to explore the world with strength rather than decline — and to remind us that sometimes the measure of a society is how it answers the call of its most vulnerable.
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Sources 24ur.com Preberi.si Delo Sobotainfo.com local fundraising campaign updates