Full diagnosis: Localized symptomatic epilepsy and epileptic syndromes with complex partial seizures, no mention of drug-resistant epilepsy, Noonan syndrome, psychomotor developmental delay, valgus deformity of the lower leg, mild visual impairment.
History and appeal from the words of the mother:
"My name is Olga, and I am the mother of a charming little girl named Sofiika. Sofiika was born on time, at 40 weeks of pregnancy, with an Apgar score of 7/8. We were discharged from the maternity hospital on the fourth day. Life went on as usual: the baby grew up, at 3 months she began to hold her head up, learned to roll over and sit up on time. We were happy with our life.
Six months after the next vaccination, the child had his first seizure. Life was divided into before and after. Since then, we have undergone numerous examinations, including an MRI of the brain at the children's hospital in Dnipro, where the child was diagnosed with “localized symptomatic epilepsy and epileptic syndromes with complex partial seizures.” In 2023, we had a consultation at the OKHMATDIT National Children's Specialized Hospital, where the diagnosis was confirmed. Against the background of damage to the central nervous system, Sofiika developed delayed psycho-linguistic development, valgus deformation of the lower leg, and mild visual impairment. In 2024, the child underwent molecular genome sequencing, which revealed a pathogenic variant associated with autosomal dominant Noonan syndrome.
But despite all these frightening diagnoses, Sofiika enjoys life and even makes small but important strides in socialization and development.
We are doing everything we can to ensure that Sofiika can live a full life: we regularly visit a speech therapist, psychologist, and defectologist, and undergo rehabilitation. However, in order to achieve the desired result, Sofiika needs to regularly attend specialized institutions where she will receive attention and be able to develop and communicate with her peers.
That is why we turned to the inclusive center “World of Opportunities,” where Sofiika will be able to develop fully and receive the necessary attention from experienced specialists.
Currently, fundraising is underway for social and domestic rehabilitation at the Inclusive Center “World of Opportunities” for a total amount of UAH 53,500.
LET'S CREATE GOOD TOGETHER!!!
