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Roma underwent whole exome sequencing—an analysis that will help doctors make an accurate diagnosis

Sodruzhestvo

Charitable foundation · Moscow

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of RUB 53,750

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At the age of 3, Roma was diagnosed with epilepsy. During treatment, he developed attention deficit hyperactivity disorder (ADHD): the boy has difficulty controlling his emotions and concentrating. Because of his illness, Roma does not attend kindergarten—seizures can be triggered by sudden noises or bright lights. Attending school is also uncertain: if remission can be achieved, he may be able to try a regular class. Doctors suggested a genetic origin of the disease and recommended further testing.

The funds raised were used to pay for whole exome sequencing. The analysis has already been completed. Now specialists will be able to determine the true cause of the illness and select effective therapy. This very analysis may give Roma a chance at a normal life—without daily seizures, with the opportunity to go to kindergarten, study at school, and simply enjoy childhood.

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About the campaign

Roma has unspecified epilepsy; he needs to undergo genetic testing.

At the age of 1.5 months, Roma was diagnosed with a heart defect. He underwent surgeries, after which his development slowed down. At age 3, he had his first severe seizure. This marked the beginning of a series of examinations: EEGs, consultations with neurologists, and finally the diagnosis: epilepsy.

Due to the medication, Roma developed ADHD: he finds it difficult to control his emotions and concentrate. His restlessness makes it hard to work with a speech therapist.

Roma is now 5 years old. Outwardly, he is an ordinary boy: he loves toy cars and seeks out other children on the playground. He has a younger brother, Syoma, and a huge Maine Coon cat named Ares. The whole family loves spending time outdoors, by the river.

Roma really wants to go to kindergarten and play with other children, but because of unpredictable seizures, he is deprived of this opportunity. The family's entire life is organized around Roma's treatment and safety. Walks are only in quiet parks, where there is less risk that a seizure will be triggered by a sudden noise or bright light.

Schooling is also uncertain: if remission can be achieved, he may be able to try a regular class.

Doctors strongly recommend that Roma undergo whole exome sequencing—a genetic test to establish an accurate diagnosis and adjust his treatment. This analysis could give Roma a chance at a normal life.