This was followed by hospitalisation and a complex examination at the Children's Hospital at the University Hospital Brno and then at the University Hospital in Prague, including blood tests, numerous consular examinations, radiological examinations, including MRI of the brain and spinal cord. The results pointed to a possible neurodegenerative disease, and genetic testing was initiated to find the cause of Vilik's problems as quickly as possible. In his father's words, "without a specific diagnosis, there is no targeted treatment and therefore no prospect of better times". Vilik was therefore included in the research programme for the diagnosis of rare diseases in undiagnosed pediatric patients, carried out within the Outpatient Clinic for Undiagnosed Pediatric Patients and the Centre for Precision Medicine of the University Hospital Brno, and with the help of whole-exome sequencing, the diagnosis could be known in just 8 days. Vilik was found to have an ultra-rare disease - spastic paraplegia 56 (SPG56), a progressive neurodegenerative disease. Around thirty people worldwide suffer from this rare disease, and Vilik is believed to be the only diagnosed patient in the Czech Republic. Thanks to the diagnosis, it was possible to study the problem more closely, and a surprising discovery was the opportunity to participate in a clinical trial of gene therapy in a hospital in Brisbane, Australia, which is the only chance to cure or slow down the progression of the disease. There is a family in Australia with a five-year-old daughter who has the same SPG56 diagnosis as Vilik. To help their daughter as much as possible, the family has set up a foundation to fund research into gene therapy for the disease. The drug needed is being produced in batches of five, one of which will be given to the Australian girl, and the others will be offered to families around the world.
Vilik's parents were immediately interested in the opportunity to take part in the clinical trial, but the total amount needed to cover the cost of the drug, its subsequent administration in the hospital, and the associated travel and accommodation to Australia were estimated at CZK 20 million, with no possibility of reimbursement from health insurance companies. A fundraising campaign was organised through the Znesnáze donation platform. The family managed to raise the target amount, and Vilik was awarded the last available place in the first batch of the upcoming gene therapy. He could hopefully receive the treatment in spring 2025, fingers crossed <3.
