Florijan, a six-and-a-half-year-old boy, is a very cheerful child. He enjoys the company of both his peers and adults; he loves horses, water, books, audio recordings and folk music, which is why he also likes to play a tune or two on his little accordion. Thanks to his playful nature and charming smile, which never fades, he brightens up even the gloomiest of days. At the age of two, Florijan was diagnosed with a rare genetic condition – Angelman syndrome. This is a rare neurological and genetic disorder characterised by a defect on chromosome 15; it occurs in one in 20,000 children and primarily affects the brain.

We began to notice developmental issues during visits to the paediatrician. It started with low muscle tone, so Florijan began attending physiotherapy sessions through the National Health Insurance Service (ZZZS) even then. However, there weren’t many of these sessions available, so he also started attending private therapy sessions. At three months old, he wasn’t tracking toys with his eyes, so they were referred for a specialist examination at an eye clinic, where they diagnosed a thinning of the optic nerve. As a result, he had to attend further therapy sessions. As his condition did not improve, he had to undergo additional tests, which revealed changes in the white matter of the brain and a thinner corpus callosum, which connects the cerebral hemispheres.

After 13 months of waiting, on his second birthday, Florijan received the results of his genetic testing – a diagnosis of Angelman syndrome. This condition is characterised by delayed physical and emotional development, often accompanied by sleep disturbances, epileptic seizures and uncontrollable laughter. His condition and quality of life can be improved through speech therapy and physiotherapy.

Throughout this time, Florijan has been diligently attending therapy sessions, mostly self-funded, as therapies covered by the National Health Insurance Fund (ZZZS) are too infrequent. The total cost of out-of-pocket therapies per year amounts to as much as €11,000, which represents a significant financial burden. There is currently no medication available for his condition, and therapies are the only option for improving his condition and preventing further complications that the disease may cause.

A clinical trial that could help Florijan also gives them hope every day, but he must be as well prepared as possible to take part in it.

You can also transfer funds to the fund using the following details:

Humanitarian Association Enostavno pomagam,

Cankarjeva ulica 1, 3000 Celje

Account No.: SI56 6100 0000 7496 313 (held at Delavska hranilnica)

REFERENCE: SI00 152-2022

REASON FOR PAYMENT: Donation for Florijan, PURPOSE CODE: CHAR

*reference or purpose of donation must be stated