Agniya's unlucky lottery ticket
2-year-old Agniya has a rare genetic disease – Coffin-Siris syndrome. This is a so-called "lottery ticket", but not a very lucky one. It's a spontaneous mutation – you can't predict anything, and no tests can detect it before pregnancy, and during it as well. At 9 months of pregnancy, Agniya, being in her mother's belly, experienced the first days of a full-scale invasion.
"We left Berdiansk on the very first day, but we never made it to my parents' house because we were stuck in Chernihiv. It was a kind of trap. And at that moment, her father was trapped in Mariupol, and we are still waiting for him, because he is a military officer and is still in captivity in russia," says the girl's mother.
The girl was born on time, despite the enormous stress. At first, doctors said that everything was fine with the baby, but then she developed a developmental delay, had difficulty holding her head, and much later began to roll over and not crawl. Then the neurologist sent the girl to a geneticist, and according to the results of the diagnosis (the materials were sent to the United States), Agniya was diagnosed with this syndrome. The girl's mother was in despair – her daughter was sick, and her father was in captivity...
Children with this diagnosis begin to speak late, but the sooner treatment is started, the higher the chances that the situation will improve. Agniya started rehabilitation in Zhytomyr, where she learned to crawl and walk. Now she needs comprehensive treatment, but she simply cannot afford it. Let's help Agniya get to rehabilitation and say the word “dad” when he returns home from captivity!
Full name: | Agniya Khomyak, 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: | 9880 |
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23.12.2024 22:16
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Виктория Чередниченко
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