Thanks to your help doctors are closer to solving Idelia's illness

Dedmorozim

Fundación Perm region

This summer Idelia took the genetic test, which was paid by your donations. "Full genome sequencing" detected mutations in one of the genes. They are associated with nervous system disorders. Doctors will soon be able to select the right treatment for the girl. According to the geneticists they will now have the opportunity to influence the course of the disease. With the right therapy there is a chance to control epileptic seizures and improve the girl's quality of life. Thank you for performing this miracle for Idelia!

Informe

Información de la colecta

Help doctors find the cause of Idelia's multiple malformations

Help doctors find the cause of Idelia's multiple malformations Idelia has already gone through many examinations: observation by an epileptologist, repeated MRI scans of the brain and the whole body. But so far they have not been able to find the cause of the developmental delay. At first, her mother thought that the daughter's problem was only with her gait - the girl learned to balance and walk only by the age of three. But even now, going down and up the stairs are given to the girl with difficulty. By the age of six, she had epilepsy attacks, but her parents learned to cope with them. It seems that this loving family can do everything, but the parents want to help their daughter to develop. Now Idelia has finished the first grade of a remedial school. Learning is not easy for the girl - she is tired and cannot express her thoughts. Idelia's vocabulary is about 40 words. And this kind girl has something to say to the world. Most of all Idelia loves her little sister Angelina, who has already overtaken Idelia in development. The girl likes to play together and Angelina takes care of her sister. Doctors recommend a genetic analysis “complete genome sequencing”. This is an expensive study, which parents cannot afford to pay for. The analysis will help doctors to establish an accurate diagnosis and understand the cause of numerous malformations. Become a miracle for the girl, help solve the mystery of her disease.

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Патимат Ахшибаевна

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