Lisa grew up like an ordinary child: her physical development corresponded to her age, and even early motor development was noted. But at the age of 3, doctors diagnosed an autism spectrum disorder and treatment began.
A tragic turn happened at the end of 2025: against the background of acute respiratory viral infections, Lisa had her first severe attack of epilepsy with febrile seizures. The second attack happened in February in kindergarten — the girl lost consciousness, her lips turned blue. After hospitalization in GBUZ PK "DKB im. Pichugina P.I." the examination has begun.
Doctors are currently facing an important question: what is the nature of the disease? The diagnosis remains incomplete: epilepsy, unspecified (possibly focal genetic); focal seizures with unspecified onset; a genetically determined syndrome is likely.
In order to find answers and choose the most effective treatment, Lisa needs to undergo a full genome sequencing. This study will help identify the genetic causes of the seizures, clarify the diagnosis, and establish a long-term treatment strategy.
Verified by Tooba
Verified by Tooba
