Now Sasha knows his diagnosis! Thank you!

Bereginya

Fundación Perm region

Alexandra underwent genetic testing: Tuberous Sclerosis and Neurofibromatosis panel. The diagnosis of Tuberous Sclerosis was not confirmed, which is very good. With the help of the results of the genetic study, the doctors determined the diagnosis: Neurofibromatosis Type I. Neurofibromatosis type I is treatable. Currently Sasha has an appointment with Eleonora Serebryannikova, the chief neurologist of Perm and the Perm region, where a specific treatment will be prescribed. Sasha attends a speech therapy group in the kindergarten, and has a lot of lessons with a speech therapist, a speech pathologist, and a pedagogical psychologist. Sasha is working hard to prepare for school, learning to pronounce sounds correctly, but she is trying hard.

Informe

Información de la colecta

Sasha has a genetic disease. It is necessary to make a diagnosis and prescribe the correct treatment!

Alexandra recently turned 6 years old, she is the second youngest child and the favorite of all family members. The girl goes to the speech therapy group of the kindergarten and actively attends various circles: she is engaged in drawing, modeling and applications. Now she is learning to read and dreams of going to school. Sasha was born with a very rare hereditary genetic disease from the category of phacomatoses. The diagnosis was made in the year when Sasha had the first spots on his skin. Every year she is examined at a neurological clinic. This year, she was found to have an education in the brain and heart. Tumors are benign, but their whole danger lies in the fact that they can grow and put pressure on the surrounding tissues of vital organs, which is why there is a huge danger to health and life, the danger of becoming disabled. Now she needs to make an accurate diagnosis, conduct a molecular genetic study in order to start treatment as soon as possible and save her life. Please help Sasha to get a chance for a healthy childhood.

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