Valya underwent extensive genetic testing

AiF. Dobroe Serdce
Fundación • Moscow
Seven-year-old Valentin Yepanchintsev from Khabarovsk passed a very important test for him. Another important stage of the genetic quest has been completed. Thank you for helping to raise funds for the examination of the child.
The results are already known - doctors found eight broken genes in him. This will be the basis for the final diagnosis.
Natasha's mother says that Val's condition is similar to ASD - autism spectrum disorder, but this is still in question. The boy can read, but speaks almost nothing, draws well all over, but does not pay attention to the speech addressed to him. His condition has been steadily worsening for the last two years: Valya is suffering from severe headaches, bouts of vomiting and fainting spells. And also there are jumps in blood sugar.
Doctors could not come to a consensus on the diagnosis and understand how to treat the child. Only genetics could give answers to all the questions.
- Thank you to everyone who helped us, - says mom Natalia. - There is no limit to my gratitude. This analysis is very important for us, because it gives us some clarity about Valya's condition.
The next in turn will be an examination of her parents. Doctors will manage to analyze if their child has a hereditary disease or it is a spontaneous genetic failure. Therapy will depend on it. But the first important step has already been taken.
Thank you for coming to the family's aid. Thanks to you, Valina's mother has the strength to keep fighting for her son's health and life.
Informe
Información de la colecta

Genetic analysis will help to understand Valentine's disease
"I want a present!" Six-year-old Valya hands his mother a note written in neat handwriting. A box with a bow is drawn in the corner. Lately her son has been communicating with her in this extravagant way, only occasionally spoiling her with ragged phrases.
In their house there are huge stacks of papers scribbled with felt-tip pens everywhere. The boy remembers with photographic precision everything he sees on the TV screen, in a book. And accurately transfers it to a piece of paper. Names of cartoons, remarks of characters, beautiful pictures... Natalia explains that her son's behavior is very similar to that of his ASD (autism spectrum disorder), but the diagnosis is still in doubt.
It all started three years ago and not at all with drawings. Valin's body began to reject food: meat, fish, fruit and vegetables. A small piece of hake could cause vomiting. In the child's diet there was only kefir and pasta.
Natalya realized with horror: in addition to food intolerance her child could not drink medicine. Even a tablet of paracetamol - nausea and vomiting. A couple of weeks ago Valia caught a cold and for Natalya these days were a real nightmare. How to bring down a fever and how to treat her son if the medicine only makes it worse? She put ice on the child, wiped with a wet towel - somehow we went on the mend.
Valya's blood sugar level was constantly fluctuating: now lowers to one, then rises to ten. At these moments the child loses consciousness, and his mother - composure.
- All our hope for the chromosomal micro matrix analysis - says Natalia. - It's more advanced than those tests that we did before. With its help doctors will finally figure out what's going on and tell us how to treat it.
But the examination is not included in the list of MHI services. Natalya cannot do it at her own expense - their family income is only a disability pension and allowance. Neither can she not do it - it is vital for her son.
If there will be a diagnosis and treatment, Valya will live without fainting, sugar spikes and vomiting attacks. It is in our power to help the boy and his family to get the chance. Let's support the collection!
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