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Varvara underwent genetic testing

Bereginya

Charitable foundation · Perm region

collected

of RUB 53,670

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Thanks to your support, Varvara underwent genetic testing (whole exome sequencing). Based on the results, doctors recommended additional genetic testing—Sanger trio sequencing.

Varya is currently undergoing examinations in the cardiology and endocrinology departments to determine the cause of her hormonal imbalances and metabolic problems. A consultation at the I.I. Dedov National Medical Research Center of Endocrinology in Moscow may be necessary.

Thank you so much for your support! The family now knows what to do next.

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About the campaign

Varvara has heart problems, please help us pay an important examination!

Varvara is only four years old, and like any child her age, she is full of energy and a desire to explore the world. However, she has serious health issues that prevent her from living a normal life. At the age of three, her parents noticed that she was growing and gaining weight too quickly, so they consulted a doctor. After numerous tests and consultations with various specialists, she was diagnosed with tachycardia. Additionally, she was diagnosed with premature puberty and hyperactivity.

To determine the causes of the numerous problems, it is necessary to perform a complete exome sequencing, which will allow to identify the genetic mutations that lead to the development of the disease. So far, this is the only way to determine the causes of the disease and develop an effective treatment plan.

Due to irregular heart rhythms, Varya is unable to engage in sports and lead a full life. We hope for the help of the benefactors to carry out the necessary examination and start the treatment. We believe that the Tubers will help Varya!