Florian, a six-and-a-half-year-old boy, is a very good-natured child. He loves the company of both peers and adults, horses, water, books, sound recordings and folk music, and he likes to play his little accordion. His playful nature and his sweet smile, which never disappears, brighten up even the dullest of days. Florian was diagnosed with a rare genetic condition - Angelman Syndrome - when he was two years old. It is a rare neurological genetic disorder characterised by a defect on chromosome 15 that occurs in one in 20,000 children and mainly affects the brain.

We started to notice the developmental features during visits to the paediatrician. It started with a lower muscle tone, so Florijan started receiving physiotherapy through the National Health Insurance Fund (ZZZS). However, there were not many of these therapies, so he started receiving self-pay therapies. At three months, he could not follow a toy with his eyes, so he was referred to an eye clinic for a specialist examination, where he was diagnosed with a thinned optic nerve. As a result, he had to attend additional therapies. As his condition did not improve, he had to undergo further tests, which showed an altered white matter and a thinner corpus callosum connecting the two hemispheres of the brain.

After 13 months of waiting, on his second birthday, Florian received the results of genetic testing - a diagnosis of Angelman syndrome. It is characterised by a delay in physical and emotional development, often accompanied by sleep disturbances, seizures, and unrestrained laughter. The condition and quality of life can be improved with speech therapies and physiotherapy.

Throughout this time, Florijan has been attending therapies diligently, mostly on a self-pay basis, as therapies through the Health Insurance Fund are too rare. The total amount of self-pay therapies per year is €11,000, which is a huge financial burden. There is no cure for his diagnosis yet and the therapies are the only option to improve his condition and prevent further complications that the disease may bring.

They are also hoping every day for a clinical study that could help Florian, but he needs to be as well prepared as possible to attend.

You can also donate to the fund using the following details:

I Help Easily Humanitarian Association,

Cankarjeva ulica 1, 3000 Celje

TRR: SI56 6100 0000 7496 313 (opened at Delavska hranilnica)

REF: SI00 152-2022

PURPOSE: Donation for Florijan, PURPOSE CODE: CHAR

*must specify the reference or purpose of the donation