Thanks to you, Alice will find out the cause of her illness.

Bereginya

Fundación Perm region

Thanks to you, Alisa underwent an important test—whole genome sequencing. After receiving the results from the Genomed laboratory in Moscow, Alisa and her mother are planning a trip to the Palladium Medical Center in Izhevsk, where they will undergo further MRI and EEG examinations. Based on the results, Alisa's treatment will be adjusted for the future. Alisa has epilepsy. If her underlying condition is genetic, her subsequent treatment will be adjusted to minimize seizures. Thank you for the opportunity to discover the true cause of her illness!

Informe

Información de la colecta

Alice needs important research to help doctors find the right treatment!

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.

Donantes

139
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Малый ЛебедьМорской Лев..Vagit Shakhverdiev
139 ayudan

Comentarios

1
Малая Косатка
Малая Косаткаhace 5 meses

Спасибо всем кто помогает нам и Алисе , надеемся что исследование поможет хоть немного снизить отставание в развитии. Спасибо большое всем 🙏🙏🙏. Всем добра и здоровья🙏🙏🙏

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