"Dad, am I sick?"

Miroslava is a mystery to their parents and doctors: for several years they have been trying to find out what she is sick with. You can catch an elusive diagnosis of worlds and other such children, but for this you need to conduct a difficult test

We help analyzes for children with primary immunodeficiency collected 5 059 024 R required 5 028 960 r help

Moscow. Center named after Dima Rogachev. Ivan tightly holds a three -year -old Miroslav by the hand. They go to meet a new doctor. Dad has a big palm. Big and red. The daughter has a tiny pale palm. And also a narrow pale forehead and pale cheeks. And huge black - against the background of all this whiteness - eyes. With a growth of 95 centimeters of the world, up to 13 kilograms does not. Every weighing Ivan and his wife Christine are worried as a difficult exam.

Miroslava photo: Vasily Kolotilov for TD

Ivan and Miroslava arrived in Moscow from Kursk and will remain here for two days to hand over material for genetic analysis. The result will be the answer to the question that first sounded in 2017 within the walls of the Kursk resuscitation.

"A little lower than the norm"

“Then, two years ago, the doctors carried out some procedures, and Miroslava became better. But what did they do and why this is all happening, no one said, ”Ivan recalls. - According to the analyzes, everything was within or just below the norm. Kursk experts decided that Miroslava has such a feature of the body. With this “feature” we were released home. ”

After resuscitation, Miroslava fell under regular supervision of doctors. Only all the tests indicated “just below the norm”, the world almost did not gain weight-an average of 100 grams in two months, and a 40-degree heat could last three days.

When Miroslava was two years old, her dad decided that it was necessary to do an unscheduled blood test.

Ivan, Christina, Miroslava and her older sister Stefania photo: Vasily Kolotilov for TD

“It seemed to me that the world became completely pale and some even swollen. It is difficult to notice that something is wrong with your child when he is always wrong. But I decided to play it safe. "

When the results came, the girl was hospitalized: she required an emergency blood transfusion.

“Hemoglobin turned out to be critically low,” the world explains. - I watched my child literally came to life on the transfusion, how the whiteness fell from her face. At the same time, I understood that I could not do anything so that this infection would not return again, because I did not know what to fight with. And no one knew. "

"Why did we come here?"

Before the first hospitalization, the Kursk doctors poured the world through the catheter a solution of albumin - a protein that is up to 60 percent of the total amount of blood plasma proteins for five days to the Russian children's clinical hospital. Almost all this time, the girl had to spend without movement. Ivan almost did not move, supporting his daughter.

“Miroslava has long been accustomed to injections,” Ivan admits. - Only the very word “injection” scares her. She cried only once because of the injection. And in general, she feels like in hospitals in hospitals. Like at home. True, yesterday after my mother’s call, Miroslava was smoked. She asked with resentment in her voice: “Dad, why did we come here? Why?” I answer: "Aunt will see you so that you do not hurt." And she is in surprise like this: “And what am I sick, or what?” ”

Miroslava photo: Vasily Kolotilov for TD

A year ago, in the RDKB, the world parents finally heard the first preliminary diagnosis: "Schwahman - Diamond's syndrome." This is a rare genetic disease that is manifested by exocrine pancreatic failure, hematological disorders, growth retardation and bone anomalies.

“When I read about this syndrome on the Internet, I was just scared,” Ivan says so that she does not hear the world that plays next to the plush mouse. - It is terrible not from the symptoms that he threatens, but from the numbers. I read that with this diagnosis, children at seven are dying. ”

Unknown 10 percent

The attending physician of Miroslava Anna Moiseeva assures: it is too early to draw the final conclusions.

“The history of the study of this rare disease knows five genes, the mutations of which lead to the development of the disease, and the same gene mutates 90 percent of clinical cases. With this variety of syndrome, children die in the first years of life. But this gene was investigated by Miroslava, and it turned out that there was no mutation in it, ”the immunologist explains.

According to her, the world may have Swachman syndrome - Diamond, associated with a mutation in other genes. Then its case either falls into the remaining 10 percent, which are little studied, or belongs to another rare type of immunodeficiency.

Christina and Miroslava photo: Vasily Kolotilov for TD

To find out what kind of genetic defect the world has, and starting treatment in time, it is necessary to conduct complete eczu sequencing - this genetic study will allow the world to choose the right therapy.

Genetic studies are not included in the compulsory medical insurance system. Analyzes and drugs are paid by the Sunflower charity fund. Let's help the fund raise funds to pay for expensive, but such necessary tests. Subscribe to a monthly donation for any amount - and in time the diagnoses will save more than one childhood life.