Two is almost the universe

Polina Leonova lives in the suburbs, and Sasha Litvinova in Minnesota. They are united by a very rare genetic mutation that affects mental development. Polina became the first in Russia to find this deviation. We talked with both families and learned how they are fighting for the present and future of their children

A genetic disease cannot be made, they cannot be infected either in intrauterine or after birth. Genetics is formed during conception. Many have deviations from the norm. Red, albinos, people with green eyes - all these are people with genetic deviations. But if the affected gene is responsible for mental development, then this becomes a serious test for both the baby and his parents. Polina Leonov was discharged from the hospital with a certificate in which “healthy” was written. But after a few months, doctors began to notice that she began to lag behind in development.

“I was twenty -five years old at that time, this is my first child,” says Irina, “and when the pediatrician for the first time said:“ Mommy, you have a disabled person, ” I was ready to nail her. It cannot be! How? My child is sick, and no one can say that with him. And at the examination in the scientific and practical center of children's neuropsychiatry, it became completely scary. In the corridors, I met a mother who wore her already adult son in her arms. Children in wheelchairs, with heavy joint deformations, making inarticulate sounds instead of speech. Is it all awaits us? The doctor directly said to me: “Make a disability, do not lose time.” Of course, I cried for a long time. I died morally in this hospital. ”

Science is unknown

Irina Osovskaya with Sasha photo: from personal archive

When parents find out that their child is sick, this is always shock, rejection, despair. And it doesn’t matter where the family lives, in the Naro-Fominsk near Moscow or on the other side of the ocean, in Minneapolis. Dmitry Litvinov and Irina Osovskaya - immigrants from the Soviet Union. In 2013, they had twins, the boy Leva and the girl Sasha. As in the case of Polina, the feature of the development of the girl was not noticed immediately. Lenya raised his head faster, began to turn over, and Sasha seemed to be delayed, but nevertheless stacked in the end, permissible according to the standards of development. But the farther, the difference in the development of his brother and sisters became more obvious.

“We have such a Russian line, not to believe in the end in the diagnosis. Like, nothing, it will pass, ”says Irina Osovskaya. - The Americans are not so. They were told, and they immediately agree. "

Polina and Sasha have a very rare disease - the defeat of the DDX3X gene is the only thing the doctors could tell parents. But no one could explain what this means. A similar case was not described by modern medicine. In fact, it sounded like this: "Your child has a genetic mutation, but we do not know what it means and whether it has something to do with developmental in development." Three months after the parents of Sasha were given the result of the analysis, a scientific article was published in which a group of geneticists described this new mutation. Then all medical centers in the United States began to double -check the results of analyzes in which unknown mutations were discovered and found several more children as Sasha.

Irina Leonova with Polina Photo: From Personal Archive

When a year later, a DDX3X syndrome was diagnosed with Polina Leonova in Moscow, then in its conclusion they wrote: “The previously not described heterozygous mutation in the 13th exon of the DDX3X gene” was revealed. Apparently, in the Genomed Center, where the study was conducted, they were not familiar with the scientific work of colleagues from behind the ocean. I must say that genetic tests are a very expensive pleasure. The insurance company paid for Sasha’s parents, and Irina Leonova had to find the money herself.

“To say that I had a panic is to say nothing,” recalls Irina Leonova. - Huge amounts were required! I did not understand how this is possible? You have a child, but you have no money. Our medical insurance is not about this at all. ”

Guilt

Polina photo: from personal archive

At about the same time, her parents divorced Polina with the design of Polina’s disability. Irina and Edwin (Pope Polina) have not got along for a long time, and when the question arose about the need to pay for expensive research and rehabilitation, the relationship finally spoiled. After the divorce, the father completely disappeared from the life of Polina, he does not even congratulate him on his birthday. They never saw alimony from him either.

“Our society imposes guilt,” says Irina. - Repeatedly heard what it is for me for my sins. Of course, I still did not understand for which. This question "Why do I need all this?" I stood for a long time, and I can’t say that I still do not set it for myself. But rather, he doesn’t sound “for what?”, But “for what?” Now I can already calmly talk about my daughter's illness. This happened largely thanks to Polina and her desire for development. ”

Sasha photo: from personal archive

“When we only learned the diagnosis, we thought, of course, about the worst. - says Irina Osovskaya. “How will she be when we are not, and all that kind.” But in general, we coped. The feeling of guilt is, of course, a very Russian topic, but we did not have this. Rather, a misunderstanding what kind of infection this is about which no one knows anything. But over time it became easier. We see that Sasha is talking, knows all the numbers and letters, can stand up for himself. It’s not so scary for her future. Well, the realization of what could be much worse helps. ”

It is incomparable

Sasha Litvinova was much more lucky than Polina Leonova. Firstly, she has two loving parents, and secondly, in the United States a more advanced healthcare system. When it became known about the diagnosis of Sasha, she was given to a specialized kindergarten. In fact, a rehabilitation center with the necessary equipment and specialists.

Irina and Dmitry with Sasha and Lenya Photo: From the Personal Archive

Sasha is taken from home, engaged with her and returned back. No effort from parents is required for this. It so happened that shortly before the birth of children, Irina and Dmitry moved to a new house, which was a ten minutes from this center, the only one in the entire state. Sasha’s parents work in large companies, and they have good medical insurance, but even she does not cover all the necessary expenses. It is more possible to get more thanks to employees of the rehabilitation center who write letters to the insurance and ask to allocate additional funds for classes with Sasha. So she manages to get six hours of therapy per week.

“It makes no sense to compare Russia and America,” says Irina Leonova. - We have a fundamentally different approach to all issues. The only option to exist with a special child in Russia is to move to Moscow or Peter. Health care is better financed there, there are opportunities for rehabilitation and at least somehow developed an affordable environment. In Naro-Fominsk, I cannot go with a stroller in many places. It is stated that there are inclusive education in schools, but in fact this is limited to the construction of the ramp, and then there is a ten -centimeter threshold and the absence of elevators between floors. The city even has a “fairy tale” rehabilitation center, where there are a lot of good expensive equipment, but employees do not know how to use it. There is not enough qualifications. ”

For a long time, Irina did not talk about Polina's health problems for anyone but her parents. Trips for survey for others were a vacation somewhere in a sanatorium. But over time, people began to ask questions why the girl was almost a year and a half, but she still does not walk? When the young mother rested on the issue of raising money, it was already impossible to hide everything further. One rehabilitation rate costs one hundred and fifty thousand rubles, and between the courses Polina is engaged in the rehabilitologist of the house.

Irina with Polina photo: from personal archive

“The collection of funds completely erased me,” says Irina Leonova. - Now they perceive me not as a person, but as a person with an outstretched hand, whom if you meet on the street, then you must definitely climb into your pocket and give money. There were moments when people recognized me on the street and really took out a wallet. Absolutely good intentions. Even though I have extensive experience in fees, this still introduces into a stupor. ”

In America, children are not collected for the rehabilitation of children, but in most families where there is such a special child, one of the parents is still forced not to work in order to provide him with constant care. Irina Osovskaya was lucky: she went to work four months after the birth of Sasha, nannies help her house, who can meet children from the kindergarten, play with them. Objectively, Sasha develops very well and is currently behind her peers for only 8-10 months. If you do not know that it has features, then you can not notice.

The matter of survival

People generally tend to unite in groups, and when they are in a difficult situation, this already becomes a matter of survival. Parents of children with DDX3X syndrome in the United States created the DDX3X Foundation Foundation. It helps to identify new children with this problem, to support those that they already know about, and to disseminate information about this genetic mutation. But the main task of the Fund is to financing research in the field of DDX3X gene mutation. A whole scientific group is now working under the guidance of a children's neurologist, Doctor of Medical Sciences Eliott Sherra.

Sasha photo: from personal archive

Dmitry Litvinov, Father Sasha, is actively engaged in the business of the fund, supports the DDX3X.com website, and helps organize annual meetings. They are involved in children of children with DDX3X syndrome, as well as scientists who talk about what they managed to achieve in research per year. Irina Leonova is also called to a meeting, which will be held in December of this year, but she is not given an American visa. Divorced, there are no property, from the means of existence only a manual. And the fact that her daughter’s disease is explored only in the United States also does not add confidence that Irina will not want to stay in their country.

Two worlds

“When you raise funds, both positive reactions and negative reactions are poured on you,” says Irina Leonova. - Many support, say inspirational, kind words, but there are those who begin to make claims. They wrote to me with reproaches that I could spend money on something except Polina, trying to blame fraud. It was envied that we are shown on television, we flicker in newspapers, travel around the country. But I don't answer anything. Any of my answer will be an excuse that will be even more negative. At first it was hard to read this. I thought, maybe people are really right. Maybe if I have no money, then this is my problem, my cross. ”

Sasha will soon go to a regular school, Polina, such happiness, most likely does not shine. Great luck if it gets at least in the correctional one. This will be determined by the psychological and pedagogical commission. Irina says that most likely Polina will have home schooling, whose program is compiled taking into account the level of development of the child, but she does not know how it is implemented in Naro-Fominsk.

Polina photo: from personal archive

DDX3X Foundation around the world collects information about children with this syndrome. While this article was being prepared, the number of cases revealed increased from 350 to 360. Including another girl from Russia was added. Irina all the time believed that her daughter Polina is the only in the country with such a genetic mutation, but in the course of preparing the material we found the second girl. She lives in Voronezh, and she is seven years old.

“You can’t even imagine what you did. You did not find a girl, you turned my world over! - says Irina. - Two is almost the universe! I was once found in the same way Ira and Dima from America, and now they are for me like a second family, although there is an ocean between us. It turns out that she underwent rehabilitation in the same center as we and lived in the same apartment that we rented during the course. We were always there, but did not know about each other. Now we are already communicating with her mother and plan to meet in the fall. In general, if you listen to me and other mothers, you might think that together with a pink certificate in Russia, you need to give a rope and soap. But no. If you ask if the mothers of such children are happy and in particular, then we will answer: yes. Undoubtedly. Russians do not give up. "