When Maryana was born 10 years ago, her parents had no idea that they were about to face a rare but serious diagnosis - isovaleric acidemia - a hereditary disorder of amino acid metabolism.
At first, the girl grew and developed like all children, but at one year old, against the background of an acute respiratory viral infection, she had her first seizures, and then - she lost her speech, her movements became constrained, her development almost stopped. Despite the doctors' attempts to help, after a while Maryana's health worsened - she began to fall into a lethargic sleep.
After the girl was admitted to intensive care, the family decided to do a genetic analysis, which revealed a rare diagnosis. So rare that Maryana was the only child in Russia who was diagnosed with it.
Thanks to a special diet and treatment, Maryana now feels much better - she studies at a gymnasium and even attends a children's modeling school. But to continue moving towards her dreams, the girl still needs our support in the form of purchasing an analyzer for measuring ammonia in the blood. Thanks to it, if her condition worsens, help will be provided in time.
