Mrs. Małgorzata, the organizer of the fundraiser for little Zuzia, a resident of Osiecznica (and, privately, the girl’s aunt):
I am raising money for rehabilitation stays in an amount that will allow Zuzia to stand on her own.
Joubert syndrome, which Zuzia has, is characterized by a typical defect of the cerebellum and brainstem, reduced muscle tone, and delayed psychomotor development. Additional symptoms occurring in Joubert syndrome include abnormal breathing patterns, abnormal eye movements, and movement disorders (truncal ataxia). The syndrome may be accompanied by defects and impaired function of the kidneys, liver, and retina. The incidence of Joubert syndrome is 1 in 80,000 to 1 in 100,000. The mutation in the CEP 290 gene that Zuzia has accounts for approximately 10% of all patients with symptoms of Joubert syndrome.
Zuzia cannot stand on her own, does not speak, and has significant auditory and tactile hypersensitivity. Vision problems and muscle flaccidity make it difficult for her to coordinate her visual and motor skills.
The daily support of many therapists helps her fight the disease. Zuzia’s weekly schedule includes physical rehabilitation, vision therapy, sensory integration classes, speech therapy, and hippotherapy.
She is also under the care of a neurologist, endocrinologist, geneticist, nephrologist, ophthalmologist, the Liver Diseases Clinic, and an orthodontist.
All these therapies contribute to Zuzia making greater and greater progress, but unfortunately they are extremely expensive. Rehabilitation stays bring the greatest results, costing approximately PLN 6,000 for two weeks. This is a huge amount for us, especially since Zuzia’s daily rehabilitation at home is also costly.
You can help. How? Details are available on pomagam.pl.