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Katya underwent an expensive genetic study and overnight video EEG monitoring.

Sodruzhestvo

Charitable foundation · Moscow

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of RUB 137,277

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Immediately after birth, Katyusha was faced with a serious diagnosis—atrophy of the left hemisphere of the brain as a result of a stroke. Later, it was discovered that the girl could hardly see at all. At 7 months old, Katya was diagnosed with epilepsy. The seizures were severe, occurring up to 60 times an hour. Her development regressed, and even her emotions disappeared. But thanks to therapy and the help of the only epileptologist who agreed to take on her case, her condition stabilized. Now, in order to understand the cause of the illness, Katya underwent genetic testing—genome sequencing—a high-tech method of DNA analysis that allows the 'reading' of the nucleotide sequence of a person's genetic material to identify mutations associated with the development of the disease. Katya also underwent overnight video EEG monitoring to timely track the dynamics of epileptic activity and adjust her therapy accordingly.

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About the campaign

Katya has several diagnoses: she needs expensive tests to choose a treatment

Katya suffered a stroke during childbirth due to impaired blood flow. Doctors diagnosed left hemisphere atrophy due to the stroke. Her development was delayed: she couldn't follow toys or hold her head up. It was later discovered that she was almost blind.

At seven months, Katya was diagnosed with epilepsy. She had severe seizures, up to 60 times an hour. Her development regressed, and even her emotions disappeared. Thanks to therapy and the help of the only epileptologist willing to treat her, her condition stabilized. She no longer has severe seizures, but her EEG only records 50-70% activity, so the risk remains high.

Doctors recommend adjusting her therapy, performing video-EEG monitoring, and whole-genome sequencing. This will help understand the cause of the condition.

The family is not giving up: Katya is learning to roll over, is holding her head up better, and is trying to chew and eat from a spoon. And now Katya desperately needs help.