A rare disease. A boy from Rokycansko struggles with Dandy-Walker syndrome

Today, the eleven-year-old boy is struggling with a number of health problems that have affected his overall development. This one is way overdue. Štěpán is confined to a wheelchair and can only manage ordinary tasks with the help of others. The family takes care of him with love, his older sister was even inspired by his problems to study physiotherapy.

That with Štěpánek something is wrong, his parents Martina and Václav from Strašice noticed relatively early. “Given that Štěpánek has two older sisters, we thought his behavior was strange already at about half a year. He didn’t want to turn around much, he was so disinterested. We therefore went through a series of examinations with him, then they discovered strabismus in his eyes, which was operated on in both eyes when he was one year old. After this operation, he underwent a neurological examination during his stay in the hospital. This ultimately led to the diagnosis of Dandy-Walker syndrome,” recalls Mrs. Martina.

This syndrome mainly presents major problems in the field of motor skills and hypotonia, i.e. a decrease in muscle tone, which causes the boy to be confined to a wheelchair. “At the age of eleven, Štěpánek is at the motor level of a six-year-old child. He was also diagnosed with epilepsy, and three years ago, due to sudden seizures, when one part of the body was immobilized and apathy, he was admitted to a metabolic clinic. There, he was also diagnosed with the PMM2-CDG metabolic defect, a congenital glycosylation disorder that often causes serious, sometimes fatal, failure of several different organ systems,” adds Štěpánk’s mother.

Štěpánek, who likes to play with toy cars and trains, is fully dependent on the help of others – from dressing, through hygiene to other daily activities. He can only eat and drink on his own. Not only her husband but also two of Mrs. Martina’s great support in taking care of him older daughters. “There is a stereotype here, every day is basically the same. In the morning, it is necessary to dress Štěpánek, perform his basic hygiene, and eat breakfast… Then I take him either to the hospital, which he visits three times a week, or to a special school, where I take him the other two days of the week,” explains Ms. Martina, adding: “In the afternoons then we devote ourselves fully to it during the hours. It is difficult, but my two daughters, who have a wonderful relationship with him, also help me a lot with taking care of him. In his older sister, who is now seventeen, it even sparked an interest in studying at a medical school, she is studying physiotherapy.’

The doctors only gave him a few days. But Teo is a fighter and has already celebrated his second birthday

Unfortunately, the prognosis for Štěpánek’s treatment is not very optimistic. A partial improvement is still possible, but stagnation remains the more likely scenario. For this reason, the family tries to ensure that Štěpánek regularly attends a stationary and special school, where he likes it very much. “The cost of caring for a son is high. That’s why we decided to ask the Good Angels for help a year ago. Their monthly contributions help us pay for both inpatient care and rehabilitation, which are really important to Štěpán. We are also grateful for them because, thanks to this, we have a little money left over to make our free time more enjoyable for our two older daughters, which we usually didn’t have any more,” admits Štěpánk’s father Václav.