SPOŁECZNOŚĆ

Pola came into the world in May 2017 together with her twin sister. During the first year of life, she remained under the care of a physiotherapist and neurologist due to decreased muscle tone. Thanks to daily work and rehabilitation, she made progress, but compared to her sister, she developed more slowly.

From the beginning of learning to walk, it was evident that Pola had difficulties with motor coordination. When she turned three, she began sensory integration therapy, which supported her in daily functioning. At the age of six, Pola was diagnosed with autism spectrum disorder. It seemed that we had finally found the answer to her developmental differences, but intuition suggested that this was not the end of the search.

In September 2024, during a routine ophthalmological checkup, the doctor noticed disturbing changes - optic nerve atrophy was diagnosed in Pola. This was the beginning of a long and difficult road to the final diagnosis. After a stay in the neurological ward and detailed genetic tests, in February 2025 we heard words that changed our lives - KAND (KIF1A Associated Neurological Disorder), a progressive neurodegenerative disease caused by a mutation in the KIF1A gene.

The diagnosis was devastating. KAND is an extremely rare disease for which there is currently no effective treatment or gene therapy. Nevertheless, we did not give up. We did everything to get Pola included in KAND research in the United States, offering hope for future gene therapy.

Despite the disease and numerous difficulties, Pola is a cheerful girl, full of life and joy. She loves movement, cycling and scootering, is always curious about the world and ready for new challenges. Although learning comes harder to her than to her peers, every day she faces new tasks with great determination and makes wonderful progress. She is extremely sensitive and empathetic, with a heart open to others.

Today we live in uncertainty, not knowing what the coming months will bring. Although Pola has a mild course of the disease, symptoms may deepen, and optic nerve damage is already irreversible. However, every day we try to do everything to support her development and daily functioning. Pola participates in neuropedagogical, sensory and pedagogical therapy, and also remains under the constant care of a neurologist and ophthalmologist.

We believe with all our hearts that we will make it in time - that Pola will live to see gene therapy that will give her a chance to stop the disease and a better future. Every day is a fight for time - and for hope for all children with KAND.