Alisa is now 12 years old, and has been experiencing epileptic seizures since she was one and a half years old. The family has learned to cope with the condition: doctors carefully select treatment, adjusting protocols to ease her suffering. However, it's much harder to accept that epilepsy is accompanied by another condition – intellectual disability. The gap has become increasingly noticeable over the years.
At first, Alisa attended a regular kindergarten, but then had to transfer to a special education school. During epileptic episodes, the girl loses skills: she stops walking and talking. Despite all this, Alisa is a true ray of sunshine: kind, smiling, loves to draw, dance, and sing. She wants to be friends with other children, but her social difficulties alienate her peers, leaving her alone.
To give Alisa a chance at a normal life, genetic testing – full genome sequencing – is necessary. This will help understand the nature of her epilepsy: whether the epileptic seizures are caused by a genetic mutation or a consequence of brain swelling. With an accurate diagnosis, it will be possible to choose effective treatment and help development.
Verified by Tooba
Verified by Tooba
