Little Mykola fights against rare disease

Mykola is a late, only and long-awaited child. The boy was born with a rare genetic syndrome and multiple congenital malformations. Throughout his life, the baby is struggling to cope with the consequences of this disease. His achievements boy surprises everyone who considered him hopeless. After a complete examination in the hospital doctors' verdict was that everybody thought that the child will refuse. But parents have left Kohl and accepted the challenge of destiny.

Multiple malformations: CNS: agenesis of the corpus callosum, cerebellar pontine glioma-dysplasia, dysplasia of the cerebellar vermis, CNS depression syndrome, MSDEG, polydactyly of both hands, syndactyly 4 and 5 fingers of the right foot, varus foot installation, the OLF, PDA, Thymomegalia, bilateral cryptorchidism. And then – the conclusion of geneticists: akrokallezny syndrome cases which in 1979 described about fifty characterized Viseu apart and given a deep backlog of psychomotor development.

Manifestations of the disease are severe: a terrible gipotonus, unemotional, hypersensitivity and, consequently, irritability and restless boy, convulsions. 2.5 Year for the full development of his health and brought their results. Nick began to recover, stronger, developed an interest in the outside world, he becomes happy and cheerful; there was a reliance on the feet, and thus will soon be walking, and even begins to speak. This means that the baby is on the right track.

Slowly but surely, it is moving towards its goal – a full life! But there is still a long way to go and a lot to learn. And you need to have time until the baby is in a receptive learning age. But he needed to pass rehabilitations need significant resources, and the parents are forced to seek assistance from the kind and caring people. Please support the baby in the fight against the disease! We will help him in this difficult path.

Name: Mykola S. Tkachov, born 17/12/2012

Location: Kharkiv

Diagnosis: MVPR: CDF CNS, agenesis of the corpus callosum, cerebellar Ponto dysplasia, dysplasia of the cerebellar vermis, psychomotor retardation, akrokallezny syndrome