“He only reacts to pain.” in 5 years, Adam is not sitting, not walking, not talking

Tface-to-face response, which caused the development of many severe pathologies, there is still no. Almost all modern diagnostic studies Adam passed. The doctors just shrug. The last hope of the family – a complex genetic test that should help a final diagnosis. But money from parents for this latest survey is no more.


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Patina, the mother of little Adam, the question, what happened to the boy, without hesitation lists complex diagnoses. Over the 5 years since the birth of her son, she saw only doctors and hospitals and have learned everything by heart disease. It would seem, what else to explore, when Adam already surveyed far and wide, judging by the numerous statements, reports, test results and various treatments?

Adam’s mom Patina

Pregnancy proceeded well, without any complications. The boy was born at term, but weak. In General, nothing unusual, it happens all the time. “Adam I have a third child, has an older daughter, she is 12 years old. Unfortunately, the second girl died at the age of 5 months, says Patina. I saw that the son is not as developed as might: head to 2 months kept poorly, ate poorly. But I thought it was temporary, because of the weakness. And then the situation became worse and worse. From 4 months my son was diagnosed with epilepsy, and in 9 months, MRI showed atrophic changes in the frontal-temporal-parietal regions.”

Adam was in the hospital with pneumonia, and then another and another.

“2 years my son and almost did not get out of hospitals, a year not leaving the house. I was afraid that Adam is going to be sick again, says Patina. Is not life, but a madhouse. Emotionally and psychologically very difficult.”

Patina with Adam was very helpful in the children’s hospice “House of a lighthouse”. There is not only “stabilized” the boy who just “melted” the Patina on the hands of Adam even began to eat with a spoon, but was brought back to life the very Patina, giving her the necessary psychological support.

But still the family does not know the main thing – that with the child why he is not growing, why your 5 years old boy cannot walk, he sits, not speaking, not focus, does not recognize loved and did not show emotions. “He only responds to pain, says mom. If he is uncomfortable, he quietly whines”.

The parents went to the geneticist tests, which also did not answer. Now all hope of a family on a single genetic test, called chromosome micrometrical analysis (CMA). It identifies the smallest “failure” in the genes, which are not visible under the microscope when performing karyotyping – the standard study the number and structure of chromosomes. With CMA diagnosed 245 genetic syndromes and 980 hereditary diseases.

The study will identify the cause of the condition of Adam and to give the opportunity to choose the adequate therapy. But the analysis is not included in the CHI program, it costs 40 000 rubles. These money have family there. Patina understands that rapid improvement can not count, diagnoses at Adam very complex. “My husband and I want to know that our boy, says Patina. – And most importantly, we want to know what happens next, what do we need to prepare ourselves.”

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