"I haven't had a single day to myself in years": a mother's story of raising a child with an ultra-rare syndrome

A woman in Czechia is raising her son Patrik, who has an extremely rare genetic disorder — ATR-X syndrome. Doctors were able to give her almost no information about the diagnosis, so she had to search for answers herself, eventually finding support through the international ATRX Alliance group.

According to available data, only around 250 patients worldwide live with this syndrome. Beyond the core diagnosis, Patrik has a whole cluster of related conditions: autism spectrum disorder, severe intellectual and psychomotor disability, and problems affecting his kidneys, bladder, thyroid, vision and other body systems.

The boy also suffers from what's known as hetero-aggression — hitting, kicking, pinching and pulling hair. His mother recalls that during a friend's last visit, Patrik tore out a large clump of her hair. Since then, the woman has stopped inviting guests home, fearing for their safety.

An ordinary day in the family is anything but calm. Because of hyperkinetic syndrome, the boy can't sit still, throws things around, and his behavior is extremely unpredictable. Falling asleep takes him one to two hours, and his mother has to lie beside him the entire time — the moment she gets up, he wakes. At night he cries out repeatedly, kicks and tosses, meaning she has been effectively deprived of proper sleep for years.

A day rehabilitation center helps only partially — Patrik attends for half a day at most, and due to frequent illness he spent roughly half of the past month absent from it altogether. Even during those hours, his mother gets no real rest: she has to deal with government agencies, doctors and errands. "I haven't had a day to myself in several years," she admits.

She has tried applying to respite care services for caregivers, hoping to get at least a weekend to rest and catch up on sleep, but every institution she contacted turned her down — some because Patrik doesn't use a wheelchair, others because they couldn't guarantee safe supervision given his behavior.

The situation is made harder still by the mother's own health problems: since the start of 2025 she has suffered five anaphylactic shocks, each time ending up in intensive care followed by hospital observation. Even so, she says her son always comes first, and she constantly asks doctors to let her go home as soon as possible, because a seriously ill child is waiting for her there.

What frightens her most is the future: Patrik is growing and becoming physically stronger, while his mental development remains largely unchanged. Caring for him already demands enormous effort, and she fears that one day she simply won't be able to manage alone — with no one able to take her place, since his care requires constant attention, experience and immense patience.

What people around her understand least, she says, is that a person caring for a severely ill child gradually stops existing for themselves. While others can meet friends for coffee, go to the cinema or simply take a walk, she has been denied such simple pleasures for years. "My whole life has been reshaped around my son's needs. And yet I love him deeply. I just wish that people going through this kind of caregiving didn't have to feel so completely alone," she says.

Those who wish to support Patrik's family can find information about the fundraiser on the Donio platform.

Source: flowee.cz