Unique Masha. 2

Masha is a unique girl, there are only a few such girls in the world.

Her uniqueness is called "Wolf-Hirschhorn syndrome", and it turned out due to a gene breakdown. With this diagnosis, mortality in the first two years of life is 34%. But if the child survives, the condition will gradually improve. Masha has passed a critical milestone, she is already eight now.

For a long time, no one knew about the real diagnosis. Instead, Masha's card listed malformations: bilateral cleft lip, cleft hard and soft palate, heart and kidney defects, clubfoot of the left leg. As time passed, surgeons corrected some of the defects, but she still has to live with the rest.

Masha's mother did a great job of finding information. Thanks to this, at the age of five, genetic analysis clarified the situation: Masha has a slightly understood and extremely rare genetic disease. Doctors rarely deal with this disease, and hardly know how to make life easier for these children.

For three years now, Masha has been attending a rehabilitation and speech therapist several times a week, attending classes for mental correction. During this time, there has been a huge leap in her development. Masha seemed like she woke up and began to explore the world around her. With gestures and sounds, the baby shows her desires: if she wants to eat, she crawls into the kitchen, to her high chair. And for a walk, she takes clothes out of the closet and hugs them to herself. At the moment, Masha is unable to walk, she moves around the apartment, sitting on the priest. And she does it great!

Incredibly, the girl, who a couple of years ago was in constant drowsiness and apathy, now watches cartoons and listens to fairy tales! Here it is the result of work with specialists and homework with mom. Her daily activities must be continued. Without them, Masha will fall back into hibernation, and her life will turn into existence.

The goal of our project is to give Masha the opportunity for development for the next four months.