Help Sonia get better

Sofiika from Kamianske has atypical autism and movement disorders. Her father died 3 months ago, the family was left without support. The girl needs to undergo a thorough genetic examination to find the cause of developmental delay, lack of speech, and spontaneous muscle contractions (twitches). Sonia really needs our help: her mother cannot raise the money to pay for her daughter's examination on her own.

The parents dreamed of a daughter for 15 long years. When the baby was born, their happiness knew no bounds. But on the third day, the child suddenly stopped breathing and began having seizures.

Sonia spent 2 days in intensive care under a ventilator, then another 2 months in the neurological department. When Phenobarbital was prescribed, the seizures stopped. The child was discharged with a diagnosis of spastic tetraparesis, epilepsy, and bulbar syndrome.

Sofiia had a developmental delay: she started sitting at 10 months and walking at 2 years and 3 months. The girl has partial atrophy of the optic nerves, but due to the lack of speech (she communicates using gestures), it is impossible to check her visual acuity.

In 2018, a psychiatrist diagnosed atypical autism. At the same time, Sonia underwent electromyography, which showed a decrease in the strength of contraction of the muscles of the feet and fingers. To find the cause of this condition, the parents consulted with the doctors of the Kharkiv Specialized Medical and Genetic Center. A number of metabolic disorders were discovered in Sofiia.

Sonia is a cheerful, restless girl. She studies at a boarding school, and in her free time she loves to run and jump, play with her cat Matvii. Sofiia knows numbers, names objects, animals, colors, can write and draws beautifully.

Doctors suspect that the girl has a genetic disease, possibly Angelman syndrome. Irina really wants to understand what is happening with the child and how to help her. To do this, Sonia needs to undergo an in-depth genetic examination at the Vitalab laboratory in Dnipro.

Sophia's mother turns to us for help with the collection. These funds will go to pay for advanced tests that will help detect a rare mutation in genes. Friends, let's support Sonia!