Matvey's genetic analysis turned out to be informative for correcting his diet and physical activity!

Dom Dobroty

Charitable foundation • Moscow

Dear Toobers!

Thanks to your care and participation, Matvey underwent genetic analysis.

It revealed changes in two genes that can have a negative impact on the body and provoke some disorders.

One of the genes is associated with metabolic processes and energy production by the body's cells. Mutations of this gene disrupt energy metabolism in cells, especially in tissues with high energy consumption: the brain, muscles, and heart.

Mutations of the second gene disrupt the development of the nervous system, provoke a decrease in muscle tone, and a delay in motor and speech development. Both mutations can affect the activity and proper functioning of brain neurons and create the prerequisites for mitochondrial encephalopathy.

The situation is complicated by the fact that the identified variants of genetic distortions have not been described previously, so additional examination is required.

The boy is being monitored by a geneticist, gastroenterologist, and nutritionist. Together, we adjust diet, physical activity and further development.

We are very grateful for your help!

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Campaign information

Matvey needs genetic testing to select medications that will not worsen the condition of his bone marrow

Matvey is 7 years old, he is in the first grade, he loves to read, count and play active games in the fresh air. All this is given to him with great effort.

The boy was born prematurely with severe brain damage. Many simple actions are not available to him. Matvey cannot chew and swallow food, his movements are limited. His coordination of movements is severely impaired.

In May last year, severe epileptic seizures suddenly began with an interval of a month. Matvey was hospitalized twice, prescribed different treatments and diets.

The medications have recently begun to have side effects. They have a negative effect on the condition of the bone marrow, and this can have serious consequences.

Doctors associate the boy's epilepsy with genetic disorders. A special detailed genetic analysis is needed to select medication for him.

Let's support Matvey and help him undergo an examination and select a safe treatment for his disease.

Donors

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