Maria needs a genetic test to understand the causes of the disease

At the age of 6, Maria weighs the same as a one‑year‑old child — only 12 kg. At the same time, she constantly complains of a bloated stomach, like a balloon, and frequent urges to go to the toilet. For a long time, it was believed that the cause of her health problems (gastroenterological issues and hearing problems — the child has 3rd‑degree hearing loss) was prematurity. Maria was born with a critically low birth weight — 490 grams. She spent almost half a year on a ventilator and all that time ate through a feeding tube. The girl still prefers purees and liquid porridges that don’t need to be chewed.

But last year, Maria stopped gaining weight and almost stopped growing. Doctors suggested that the cause lies in a genetic disorder. To diagnose the child and choose an effective therapy, we need a complete picture — and only whole‑genome sequencing can provide it. This type of analysis isn’t performed for free, and the cost is unaffordable for the parents. We need your help.

Let’s give Maria the opportunity to live without pain, to grow normally, and to gain weight.