Rare gene mutation in Timothy

At birth, Tymofiy suffered damage to five cervical vertebrae and hypoxia. Naturally, this affected the boy's health, he cried constantly, slept poorly, and at six months old he stopped responding to toys and noticing his parents.
The parents began to “go to the doctors” to investigate why their son's development was lagging behind the norms. Timothy sat up only at 11 months, took his first steps at one year and eleven months, but walked with impaired coordination and fell. He ate crushed food very poorly, choked. He did not speak.
Of course, the parents continued to look for the cause of these manifestations, attended classes with a rehabilitation therapist, took many tests and underwent many diagnostics. They underwent an exome and several other very expensive examinations, after which it turned out that Tymofiy had a rare epileptic activity and a mutation of the Aust 2 gene.
Today there are 125 children in the world with this diagnosis. Unfortunately, it is impossible to cure such children now, they need constant rehabilitation

Tymofiy is from a large family living in a frontline city. The parents' income is limited, they can no longer afford to pay for their son's examinations and classes.

That's why the Foundation helped Tymofiy with an examination and high-quality rehabilitation.
Сlasses, the boy's understanding of the spoken language has significantly improved, he began to pronounce some words himself, improved his body sensation, and became more socialized.

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