Oleg did an analysis for gene mutation! Thank you!

Bereginya

Fundación Perm region

Oleg's disease manifested itself at the age of four. To make a diagnosis, he needed an analysis. Made it thanks to you! Oleg's gait was disturbed, the disease began to progress. Whole exome sequencing analysis did not reveal gene mutations that would determine his disease. Now Oleg's family is preparing documents in order to conduct another analysis, a full genome sequencing to further study his illness. Thanks for helping Oleg!

Informe

Información de la colecta

To establish a diagnosis, Oleg needs to undergo a genetic study

Oleg was born quite a healthy child, developing according to his age, but by the time he was four, his parents noticed that his son's gait began to be impaired. Until the age of five, Oleg did not receive any medical care, assuring parents that it is normal for children of this age, that in the future it will pass by itself. But the disease began to progress, and by the age of five Oleg had already been referred to an orthopedist and a neurologist. Since then he has been observed in Perm. At the moment, the child walks on his toes, not stepping on his heel, and often complains of pain in his feet. "My family has Strumpel's disease, which is hereditary. The diagnosis has been confirmed in my grandfather, my father, my sister and brother, and is also present in the next of kin in my line." - tells his mother Veronica. Now Oleg has a diagnosis in question - hereditary spastic paraplegia (Stryumpel)? A geneticist advised to pass a genetic analysis - complete exome sequencing to clarify the diagnosis and assign effective treatment. Let's help Oleg live without pain and fear for the future!

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