Agnia's unlucky lottery ticket. 2
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Three-year-old Agnia is a girl who has been overcoming challenges every day since birth. She has a rare genetic disorder called Coffin-Siris syndrome. It is a spontaneous mutation that cannot be predicted or detected before or during pregnancy. It is a so-called "lottery ticket", but not a very lucky one.
In the ninth month, Agnia's mother was stressed due to the start of a full-scale invasion: the family left their native Berdyansk and ended up in Chernihiv, while the girl's father, a career officer, was taken prisoner in Mariupol. Since then, the mother and daughter have been waiting for his return every day.
Agnia was born on time, and at first the doctors did not notice any abnormalities. But later it became clear that the girl's development was slow, she had difficulty holding her head up, she was late in rolling over, and she did not crawl. Genetic testing in the United States confirmed the presence of Coffina-Siris syndrome. This was a terrible blow for her mother: her sick daughter and her father in captivity...
Children with this diagnosis start speaking late, but early therapy significantly improves their chances of development. After timely treatment, Agnia began to say the word “mama,” form phrases, imitate animal sounds, and walk more confidently and quickly. Teachers and therapists are pleased with the girl's progress, but treatment should continue.
"My main goal is to help my child become independent and socialize, and at this age, classes and development are extremely important", says Agnia's mother, asking for help in paying for the next course of treatment.
Full name: | Agnia Khomyak, 30.03.2022, 30.03.2022 |
City: | Vysoka Pich village, Zhytomyr region |
Diagnosis: | Q87.1 Coffin-Siris syndrome, autosomal dominant inheritance type, ORHA: 14BB. Minimal cerebral dysfunction, syndrome of delayed development of statokinetic functions, G98. Speech development delay, F80.8. Varus positioning of the feet. |
ID: | 10502 |
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Виктория Чередниченко
29.08.2025 18:00
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150.00 UAH |
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Charity donation
29.08.2025 17:36
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600.00 UAH |