Boy from Gzhel

Demiana for three months. Immediately after birth, his leg broke. Then the hand. Then the second leg. And only then they diagnosed - imperfect osteogenesis. And Demyan also had several intrauterine fractures. He will break further. But he and his parents can help him

We help fragile people help

Now the parents of Demyan Irina Morozova and Denis Demkiv live in the country in Gzhel. They are helped by a grandmother - Natalya Alexandrovna and grandfather - Andrei Rhermirovich. Irina and Denis told “such matters” about their so far a very little experience of life with a “fragile” child.

Grandpa : The problem, of course, we have a big one ...

Denis : We have no problem!

Grandpa : But they look optimistic.

Irina : My name is Irina Morozova. My husband ...

Denis : Denis Nikolaevich (laughs).

Irina : The first child is with us, we wanted him and waited for him. They became pregnant, pregnancy went without any complications, everything was fine. But in the twentieth week we went on a planned ultrasound, the uzist looked for me for a long time and then said: “Something I don’t understand, the femoral bones are a little curved.” And a little, for two weeks, the legs in development lagged behind. The doctor panicked, said: "Let me send you to the family planning center at Sevastopol." We went there, looked at us and made a terrible diagnosis. There sounded “Campmelic dysplasia”, and we, of course, climbed into the Internet, and there are some horrors terrible, incompatibility with life ... Everything was fine, the screening are good, risk levels are generally low, and suddenly this! When we were told about this dysplasia, we wiped our eyes naturally: “What to do? What to do?" We went to another center, in my opinion, “mother and child” is called.

Demian is dressed in parents. They do this very carefully-Demyan for two months, and he already had three fractures of the photo: Maria Ionova-Gribin for TD

Denis: Only at first we went to the genetics at Sevastopol. She said that it was okay, the uzist overwhelmed, she did not confirm this diagnosis.

Irina: We went to a paid clinic later, there was also a geneticist and a ulzist, they looked thoroughly with 3D cars, and both said that they did not see anything so terrible. The diagnosis that was made to us - campaign dysplasia - definitely not. Because with this diagnosis, both the chest of a different shape, and still a lot of everything ...

Denis : Skull deformation ...

Irina : Yes, deformation of the skull. “You don’t have this, just the femoral bones are a little curved, the shin,” she says, “there is a little shortening, well, you will have it, it means a small, small stature, well, it's okay.”

Denis : It will be like Medvedev! (laughs)

Denis is an actor, vocalist. Irina-Ballet Artist Photo: Maria Ionova-Garbin for TD

Irina : Here ... we somehow perked up in the spirit that everything is not so scary. In short, there was not a word on all ultrasound that there could be such a diagnosis. No one, no ulzist said that it could be fragile bones, imperfect osteogenesis. When we gave birth to a child, of course, we were ready for the fact that something would be wrong, but so much ...

Denis : And we did not know about such a diagnosis at all.

Irina : They knew nothing at all.

Denis : No, I once heard that there are such children, but no one even told us that this was possible. We were told that this is some kind of dysplasia.

Irina : Or a feature.

Denis: They said, from your relatives, maybe someone had it. Just a little shorter the limbs will be.

Irina : Well, yes, the body is a little longer, and the legs are shorter. I say: "My mother is small." They tell us: "Well, maybe in mom."

Demyan photo: Maria Ionova-Garbin for TD

Denis : At the 38th week we went to Professor Demidov.

Irina : Some kind of very competent uncle of the world level. He is already aged.

Denis : But in the end, he also did not say anything, said that "it will be a stocky, will be a bar, a fighter, like Caucasians."

As a result, he also did not say anything, said that "he will be a stocky, he will be a fighter, a barbell, like Caucasians"

Irina : Well, all, in general, we gave birth without problems. We had no fractures, a completely normal child was born. On the scale of Apgar 8/8, shouted right away. He weighed three kilograms, the height was 47 centimeters. She gave birth herself. The birth passed quickly, without complications. In a beautiful maternity hospital. True, the child was not left with his mother, they were taken away and then brought. So we stayed for three days. Then there was a consultation of a genetics, because we went with a problem. The geneticist came, says: "Well, well, see my finger?" Shows a little finger. He is a little curved, a little curved. “This is a genetic feature. You may also have a genetic feature. Well, the bones of the skull are soft, yes. We advise you to make an X -ray and tomography. And so, a good baby. Well, you see thekle joints - there the bones are a little bulging, but the feet are freely taken to a normal position. ”

They said that we still have large valves of the heart, arteries, they should close by three months, and if they do not close, we will have to do something. Well, in general, so we were born, and with the heart it seems to be nothing, you just need observation. The pens are still a little shorter than standard. On the third day, we were discharged from the hospital as ordinary, healthy patients. And all, we came home. We were not told a word that we need to carefully treat the baby. For ten days we stayed at home, treated him like an ordinary child ...

Grandmother helps to reassure Demyan while parents dine. Demyana after the next fracture is worn on a special mattress photo: Maria Ionova-Gribin for TD

Denis : On May 3, we gave birth to on the 6th we were discharged. We bathed it for a week, swaddling, turned over.

Irina : Handles back and forth, their legs were raised.

Denis: A doctor from the clinic came, began to squeeze his legs to his tummy so that the gaziks came out. And then we did it too.

Irina : Well, on the tenth day, they changed their diapers, were going to walk. And I say: “Mom, something has some kind of leg ...” The husband left for work, my mother and I stayed, I say: “Something is some kind of big.” We did not have such a big leg. She is directly swollen one leg, right. We called an ambulance, an ambulance arrived and said: “You look like a fracture, how did you manage like that?” We say: “We don’t know, we did nothing ...” And you know, oddly enough, he did not cry much. That is, we could not even understand what could happen under some of our actions, because he usually behaved. And the ambulance doctor says: "Let us give him a drug-condescending drug." And we are: “What are you! What drugs, no, no! "

We were taken to the hospital, there they made an X -ray - a fracture. A fracture of such small kids is treated with traction. Strengthen the plaster special, suspend the legs, and they hang there on iron hooks. Two to three weeks are fed. And under anesthesia, he wrapped him in all this, hung it ... Naturally, we all worried. We were lying in the hospital for two weeks, and on the third day I come ...

Denis : On the second.

Irina : Yes, on the second. And his hand does not move his left. The fingers only raise, and the hand does not rise. I'm panic, what is it! Well, they looked, made an X -ray again: yes, a fracture, a fracture of the shoulder bone.

Demyan photo: Maria Ionova-Garbin for TD

Denis : That is, they already broke in the hospital. They are swaddling there nurses.

Irina : Well, yes, they swaddle, they turn it over hard.

Denis : This is not a specialized clinic, ordinary.

Irina: Well, in general, they wrapped this handle to Taurus. And he was lying.

Denis : He still had a catheter (shows on his hand).

Irina : Well, yes, catheter, everything is as it should be. They stuffed it with antibiotics, fed with mixtures. I was indignant, said: "What are you, I only taught him to my chest!" Now the child does not want to take breasts, efforts to attach. And in the hospital they said immediately: "No breast, how you will give him breasts when his legs are suspended, and he lies in boxing." Well, that's all, mixtures. Bottles and mixtures. Another bear service, after which now he does not take breasts at all, eats only from the bottle.

We were discharged from the hospital in two weeks. The leg, a pen has grown together. We were delighted, arrived home. And in the hospital we were clinically examined, they made an X -ray and said: “You had intrauterine fractures. Both lower legs were broken and the shoulder, in my opinion, the right. And they made a diagnosis - imperfect osteogenesis. We ask them: "Do you even know anything about it, did you have such kids?" They say: “Yes, you are not the first, we had such children. Not so often, but came across. "

Lunch photo: Maria Ionova-Garbin for TD

Denis: They said that they did not track the fate of such children in the future.

The bottom line is that they do not particularly know what kind of children it is. How to treat them in general, how to treat them, and what to do next. These nurses are also ignorant in these matters.

Read also “Doctors said that it is better to put a child and not pick up in his arms” Director of the Fragile People Foundation Elena Meshcheryakova that children with imperfect osteogenesis are mainly interfering with barriers in their heads
Irina: In the hospital, I was hysterical, in a panic. And my sister is engaged in genetic engineering, she works at the Academy of Sciences. She passed the Internet and says: “There is Elena Meshcheryakova, she has a girl with the same diagnosis, read about her.” She found her phone and invited me to call. And for two weeks I contacted Elena Meshcheryakova. She was open and friendly, made contact, supported. She talked about her girl Olya, shared her experience. At that time, in 2004, she did not know how to behave, how to act, what was needed. There was no help. Nobody knew anything about medicines, droppers. She herself was looking for all the information, shoveled the entire Internet, re -read many foreign articles. Elena said: “It's good that you live in Moscow, it means that it will be easier for you to help, you need to do this. To pump a drug called Pamidronate. ” And I somehow calmed down a little. She gave me the phones of families who also encountered imperfect osteogenesis. I called them and we talked. Thanks to Elena, we somehow perked up.

Denis: We also looked on the website of the Fragile Children Foundation, they have events and meetings. Gather children from all over the country.

Irina: Elena Olya’s daughter is an absolutely independent child, although she was also diagnosed the third or fourth type. She walks, does some exercises, hangs upside down!

Ira talks to her son, Demyan has already begun to smile at the photo: Maria Ionov-Gribin for TD

Denis : He plays on the violin! That is, the main thing, of course, is to provide assistance in time, to start digging the medicine in time. Because the further, the more bones break. And all the more likely that the child will eventually sit in the chair and will not get up. Because the muscles will be constantly weakened. Even around, doctors who do not understand this, they begin to treat as a conventional fracture, suspend their feet or wrap a gypsum. And as a consequence of the child, muscles atrophy, and he cannot stand on his feet.

Irina : Well, yes, a fracture behind a fracture, and the child lies all the time.

Denis : And children with such a disease in other cities of Russia and most CIS countries, where there are no such clinics as, say, the clinic of Natalia Belova, where they specialize in such children, are cooked to a wheelchair. Often they can not even make a diagnosis correctly ...

Irina: After some time, when we have already discharged from the hospital, the son’s second leg broke down. By that time, we had already contacted Natalia Belova’s clinic and waited for a consultation. Doctors who have been engaged in osteogenesis have been working in this clinic for many years. Belova herself has been studying and treating this disease for about 30 years. The clinic, of course, is paid, but what to do. We called there and arrived at the consultation. The orthopedist said that this is not very scary: “Do not worry. Just keep your leg alone. He himself will not move it, because it hurts. He will be her, like a frog, just keep her two weeks until it grows up. ” There, Natalya confirmed that this is an imperfect osteogenesis, the third type. They said that we have the main task of his socially “put on your feet” so that he would go to an ordinary kindergarten. Treat him as an ordinary child. As for the bones, we asked how to fix them, they are at an angle and curved. The doctor said: “All the same, you will have fractures, you can’t get anywhere. He will break. " In the process of growth, the bone grows, these curvatures are somehow smoothed out. And from four to seven years, telescopic pins in the bones can already be put so that they strengthen them from the inside.

Irina and Demyan Photo: Maria Ionova-Garbin for TD

Denis : They have a principle, like a telescopic fishing rod. A bone grows, and this piece of iron is also stretched.

Irina : In this clinic we are observed now. If anything, we send them x -rays, they look, they say what to do. And we do everything under their control.

Each dropper of 140 thousand costs. And droppers must be done every three months

Denis : We sent a request to Rusfond to help us in treatment, because it costs a lot of money.

Irina : Yes, there each dropper of 140 thousand costs. And the droppers must be done every three months. Now we are waiting for us to answer when this money is gathering. Well, we will make the first dropper. Most importantly, make it up to six months.

Irina: If we want a second child, we will need to make genetic tests. We, as we were explained, can have two options: either my husband and I are carriers of sleeping recessive genes ...

Denis: Yes, the fact is that imperfect osteogenesis is a genetic disease that in most cases is inherited, but sometimes can occur as a result of individual spontaneous mutations in genes. My wife and I do not get this disease, but we can be carriers of "broken" genes. This can only be determined using special genetic analyzes, which are very important for both Demian and my wife and I will allow you to determine the exact type of disease in our son and, if we are carriers of recessive genes, further competently plan the birth of our other children.

Irina : Well, yes ... or the third option that we, of course, cannot have: that one of us has such a disease. And neither I nor my husband has this.

Grandpa : And in the family, too, the closest relatives did not have.

Irina : When Demyan begins to walk, it is generally unknown. Everything is very individual, each child has differently. While we were in the clinic, we met a family, they also had a child with imperfect osteogenesis. In their case, just a spontaneous mutation occurred.

Denis : They have a boy for a year and two months, he only began to sit down.

Irina: Yes, he had seven fractures at once. They also suffered so many things and experienced ...

Demyan in the arms of dad photo: Maria Ionova-Garbin for TD

Denis : There is still a feature of such babies that the skull is softer than that of other children. We have a dermal when I was in the hospital, and our legs are suspended, and the load all the time on the head. And he got a dent from the side, because he was lying on his side all the time from behind a broken hand. And this boy generally has a flat nape, because he lay in the hospital for several months.

Irina : Regarding when he starts to walk, doctors first look at the muscle corset, the spine, when the child begins to sit. And then forecasts are already made when he can start walking, and what to do for this, what treatment or rehabilitation, depending on the child.

Denis : And again, there are different types. It happens, for example, the fourth type, it is divided into four more, in my opinion, species.

Irina : Yes, they are divided into subtypes, one can flow into the other. And they can go from the third to some other in the process of growth.

Irina : Thank God that we met with people. Because if I were alone ...

Denis : It is difficult to imagine how hard it was Elena in some 2004, when only a few paragraphs were written about this disease, and the doctors did not even know what it was and how to treat it. They just immediately hung the stigma of the "disabled", and that’s it.

We are very grateful to Elena that she illuminates these questions. It pierces, it would seem, impenetrable walls! She is our locomotive, and we are all wagons, clinged to her and roll on the laid rails. Thanks to people like Elena Meshcheryakova and Natalya Belova, we can look at tomorrow with hope ...

The fragile bones of Demyan will break all his life. But the bones can become a little stronger, and fractures happen less often if he receives the necessary assistance. Once every three months he should dig a pamidronate. One such procedure costs 140 thousand rubles. It is equally important that Demyan, when it grows up, can fully communicate with other children. The Fragile People fund is organizing medical care for children and adults, pays for this assistance, acquires technical means of rehabilitation, and conducts psychological assistance groups to parents. The fund also organizes camps where he collects adolescents with imperfect osteogenesis, is engaged in sociocultural rehabilitation, assistance in education, advises parents on various issues. You can transfer any amount - 100, 500, 1000 rubles - and then “fragile” children will break less often.