Polina needs a genetic test to stop her epileptic seizures

Polina is a cheerful and creative girl. She loves to sing and play with her dog Buddy. She likes to make videos and dreams of becoming popular. She has several diagnoses, including "heart defect" and "forearm fracture" due to difficult childbirth. In 2024, she started experiencing epileptic seizures. She complained, "I'm going to fall," and indeed, she fell. Examinations revealed epileptiform activity in her brain. During the most difficult periods, she had up to 30 seizures per day. Medications only partially helped, reducing the number of seizures. After a new treatment regimen, there was a period of calm, but the seizures returned. Polina's epilepsy affects her development, making it difficult for her to communicate with her peers and pronounce certain words. However, she benefits from regular sessions with a speech therapist and a speech language pathologist. Based on the results of numerous examinations, doctors recommended that Polina undergo a genetic test called whole-genome sequencing. This analysis will help doctors understand the cause of the disease and provide the right treatment. However, the test is expensive, and the family may need assistance.