Khalil has undergone genetic testing

Khalil is from Makhachkala. Since childhood, he has been diagnosed with severe developmental delay and even epileptic seizures. He and his sister have undergone dozens of examinations, as his biological sister exhibited the same developmental characteristics. Doctors observed signs of brain damage, but the diagnosis remained a mystery. The boy is now going through a particularly difficult period: he gets tired quickly, spends most of his time sitting, and has difficulty breathing. He gets around almost exclusively in a wheelchair and is significantly behind in height and weight. Khalil is intellectually developed, but his body does not obey him: he cannot walk on his own, his speech is slurred, and he has vision problems. A wheelchair is now his primary means of mobility. Recently, Khalil was hospitalized again for another examination, hoping to finally receive a diagnosis. And the doctors gave a clear answer: to find the cause, an in-depth genetic study is needed. Only this can identify the specific genetic mutation that caused the illness in both children. The doctors have prescribed exome sequencing—an advanced genetic analysis that will serve as a map in the search for treatment. This is the chance to finally get a diagnosis and help Khalil.