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Tomášek is a three-year-old boy who was diagnosed in October 2025 with a very rare genetic condition called ALG13-CDG after a series of specialized medical examinations. It is extremely uncommon, and so far only about 80 patients with this condition have been described. Unfortunately, there is currently no effective treatment. Doctors and geneticists are still carrying out additional analyses to rule out other possible conditions and to confirm this diagnosis with complete certainty.

Tomášek

Natálka is a five-year-old girl with a disability. She was affected by cytomegalovirus in the middle of pregnancy, which stopped the development of her brain. As a result, she is bedridden, has severe epilepsy, underwent hip surgery last year, and has impaired vision and hearing.
Despite all this, she is an incredibly happy and smiling little girl who manages all viral infections, bronchitis, and sleepless nights caused by vomiting. Every one of her smiles gives us strength to care for her. She loves watching Peppa Pig and often bursts into laughter while watching it or while cuddling with her sisters.
After her hip surgery, Natálka experienced very severe epileptic seizures with every touch of her legs, during handling, diaper changing, and carrying.
Now it is very important for her to undergo intensive rehabilitation so that the surgery does not have to be repeated for at least a few years. Naty knows that the exercises help her and smiles as soon as she sees that the physiotherapist has arrived. Natálka works very hard, and half a year after the hip surgery she already enjoys standing again and is incredibly happy about it. Unfortunately, our health insurance does not cover physiotherapy.


Natálka

Matýsek was born in the 32nd week of pregnancy by an emergency Caesarean section. He was born with multiple deformities of all his limbs as well as a facial deformity, because of which he had to be connected to a breathing machine. These conditions were not detected during pregnancy.
Since his birth, we have come a long way – from learning basic swallowing and sucking to daily exercises and stretching. Matýsek has already undergone seven different surgical procedures under anesthesia, and we now know that more will be necessary.
Matýsek is 7 years old and still does not have a precisely determined diagnosis. His medical reports state: non-specific craniofacial stigmatization, numerous congenital joint deformities and contractures.
Matýsek still cannot walk; deformities of his hands and feet prevent proper development.


Matýsek

Kačenka was born in January 2012 as a healthy baby, but over time a significant developmental delay became apparent. From an early age she has been undergoing exercises and medical treatment. Additional diagnoses followed, including microcephaly, hypotonia, epilepsy, and scoliosis. She also struggled greatly with feeding – for years she was fed through a tube directly into her stomach, which was finally removed after eight years.
Today, Kačenka regularly attends rehabilitation and exercises, and undergoes hippotherapy, physiotherapy, speech therapy, as well as alternative therapies. She is making progress step by step – she has learned to sit, move around on her bottom, and can walk a short distance with assistance. She also perceives her surroundings very well, even though she does not speak. Caring for her is a full-time commitment, but every improvement is a huge reward and source of hope for her family.


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