When the desired pregnancy finally occurs, it is a real holiday. After waiting for two lines on the test, future parents feel inspired and happy, but over time they also feel certain fears. In particular, one of them is feelings about

Many future parents often ask the question of why children with Down syndrome may be born? And are there ways to prevent this pathology?

Let's figure out who these “sunny” children are.

Congenital syndrome

First of all, it is necessary to understand that any congenital syndrome, including Down syndrome, is not a disease, and therefore its treatment is impossible. A syndrome is understood as the total number of a number of symptoms that are caused by various pathological changes in the body. A large number of congenital syndromes are hereditary, but Down syndrome stands out from this list, being an exception. It got its name thanks to the doctor who first described it in 1866 (John Langdon Down). How many chromosomes does Down have? More on this below.

What caused it?

This syndrome is caused by the tripling of the twenty-first chromosome. A person normally has twenty-three pairs of chromosomes, but in some cases a malfunction occurs, and instead of the twenty-first pair, three chromosomes appear. It is this same one, that is, the forty-seventh, that is the cause of this pathology. This fact was established only in 1959 by the scientist Jerome Lejeune.

People with Down syndrome are called “sun children.” Many people are interested in who they are. The genetic abnormality of having an extra chromosome sets them apart from others. It is not without reason that the term “sunny” is assigned to such children, since they are characterized by a special cheerfulness, they are very affectionate and at the same time obedient. But at the same time, they experience mental and physical developmental delays to a certain extent. Their IQ level ranges from twenty to seventy-four points, while most healthy adults have from ninety to one hundred and ten. Why are healthy parents born?

Causes of birth of children with Down syndrome

In the world, for every seven hundred to eight hundred children, there is one child with Down syndrome. Babies with this diagnosis are often abandoned in the maternity hospital; worldwide the number of such “refusers” is eighty-five percent. It is worth noting that in some countries it is not customary to abandon mentally retarded children, including those with Down syndrome. Thus, in Scandinavia, in principle, there are no such statistics, and in Europe and the USA they refuse only five percent. It is interesting that in these countries there is generally a practice of adopting “sunny” children. For example, in America, two hundred and fifty families are waiting in line to receive babies with Down syndrome.

We have already determined that “sunny” children (we explained who they are) have an extra chromosome. However, when is it formed? This anomaly appears mainly in the egg when it is located in the ovary. Due to some factors, its chromosomes do not diverge, and when this egg subsequently merges with a sperm, an “incorrect” zygote is formed, and then an embryo and fetus develop from it.

This can also happen due to genetic reasons, if all eggs/sperm or a certain number of them contain an extra chromosome from birth.

If we are talking about healthy people, then, for example, in the UK, one of the factors influencing a genetic error is considered to be the aging of the egg, which occurs along with the woman’s age. That is why special methods are being developed to promote egg rejuvenation.

Characteristics of “sunny” children

In terms of appearance, children with Down syndrome have the following characteristics:

• slanted eyes;
• wide and flat tongue;
• wide lips;
• rounded head shape;
• narrow forehead;
• earlobe fused;
• slightly shortened little finger;
• wider and shorter feet and hands compared to ordinary children.

How many years do people with Down syndrome live? Life expectancy is directly dependent on the severity of the syndrome and social conditions. If a person does not have heart disease, severe diseases of the gastrointestinal tract, or immunity disorders, then he can live up to 65 years.

Amazing character

"Sunny" children have an amazing and unique character. From a very early age they are distinguished by activity, restlessness, mischief and extraordinary love of love. They are always very cheerful, it is difficult to focus their attention on specific things. However, there are no complaints about their sleep or appetite. Parents may complain about something else: it is quite difficult to cope with such a child at a party or on the street due to his activity and constant demand for attention to himself; he is very noisy and restless. It is difficult to explain anything to a baby with trisomy 21. Habitual methods of upbringing are ineffective for such children; you cannot scold them, because a reverse reaction will follow: either they withdraw into themselves, or their behavior becomes even worse.

Can handle it

However, you can cope with any situation. With such a child, the most important thing is to be able to choose an approach to him. Irresistible energy and mischief must be spent and used in the right way. This requires playing outdoor games as much as possible, being outside more often so that the child can run around more. There is no need to control him too much, prohibit many things or find fault with little things. One day, the young child’s energy will decrease a little, he will begin to listen to his parents more and begin to play educational, calm games.

If the necessary efforts are made, then “sunny” children can even go to a simple kindergarten and school, having previously prepared in a specially designed correctional school. Some even receive vocational education. Perhaps the most important thing is to give them a sufficient amount of warmth, love, affection and care in childhood. They are very loving and strongly attached to their parents. Without this they will not be able to survive in the literal sense of the word. How many chromosomes does Down have are described above.

Who can have “sunny” children?

Scientists still cannot find the reasons that provoke a failure in genetics and cause the development of Down syndrome. It is believed that this occurs due to absolute randomness. A child with such a syndrome can be born regardless of the lifestyle his parents lead, although many people are often convinced that such a pathology is the result of unacceptable behavior of the mother during pregnancy. In reality, everything is different.

The likelihood of having a child with Down syndrome does not decrease even in a family whose members adhere to the principles of an exclusively healthy lifestyle. That is why the only answer to the question of why such children are born to normal parents is this: an accidental genetic failure occurred. Neither the mother nor the father is to blame for the appearance of this pathology. Now we know why children with Down syndrome are called sunny.

Probability

It is worth noting that children with Down syndrome are still rarely born to healthy parents. However, there are groups of people who are at greater risk than others.

A “sunny” child is most likely to appear:

• those parents whose age exceeds forty-five years for the father and thirty-five for the mother;
• if there is one of the parents of children with Down syndrome;
• marriage between close relatives. Diagnosis of Down syndrome during pregnancy is now carried out constantly.

Of greatest interest is the fact that in a healthy marriage, completely healthy parents may have a “sunny” child due to the influence of their age. What is this connected with? The fact is that before the age of twenty-five, a woman can give birth to a child with this deviation with a probability of 1:1400. Before the age of thirty, this can happen to one woman in a thousand. At thirty-five there is a sharp increase in this risk to 1:350, after forty-two years - 1:60, and, finally, after forty-nine years - to 1:12.

Judging by statistics, eighty percent of children with this pathology are born to mothers who have not reached the thirty-year mark. However, this is explained by the fact that more women give birth before thirty than after.

Increasing age of women in labor

Currently, there is a tendency to increase the age of women in labor. But we must remember that even if a woman looks great at thirty-five and is actively engaged in her own career, her biological age will still work against her. Nowadays, it’s rare for anyone to look their age, since the female half of the population has learned to take very good care of themselves. It is clear that this particular time is the most suitable for leading an exciting, active, eventful life, traveling, building a career, starting a relationship, loving. However, genetic material, as well as female reproductive cells, steadily ages after a woman reaches the age of twenty-five. In addition, nature provides that over time, a woman’s ability to conceive and give birth decreases.

It is worth noting that the risk of having a child with disabilities is high not only in this category of mothers, but also in very young mothers who have not yet turned sixteen years old.

The development of Down syndrome is not influenced by the gender of the child, and this pathology is equally likely to occur in both girls and boys. However, modern science can predict the birth of a child with such a syndrome in the womb, when there is a choice: leave it or get rid of the pregnancy, and the parents can make the decision themselves.

We figured out who these “sunny” children are.

Celebrities

There is an opinion that people with Down syndrome cannot study, work, or achieve success in life. But this opinion is wrong. Among the “children of the sun” there are many talented actors, artists, athletes and teachers. Some celebrities with Down syndrome are featured below.

World famous Spanish actor and teacher. Pascal Duquenne is a theater and film actor. The paintings of the American artist with Down syndrome Raymond Hu delight connoisseurs. Masha Langovaya is a Russian athlete who became a world champion in swimming.

Larisa Zimina

DEDICATED to my daughter Polina - with gratitude for choosing me.

The fact that it didn’t kill us will still regret that it didn’t do it when there was such an opportunity :)

The birth of a baby with Down syndrome is always associated with many questions that his parents have and to which they, the parents, strive to get answers in the hope of imagining the future of the family where a special child is growing up, and the future of the child himself.

It’s good when there are people who are professionally involved in the development of special children and can help in this difficult situation: discuss issues that concern parents, help organize a developmental environment for the child, show and tell what and how can be done to contribute to the successful advancement of the child. However, the experience of the Downside Up Early Help Center, which has been working with families raising children with Down syndrome of early and preschool age for more than ten years, shows that the interaction of parents with each other is no less valuable, and the exchange of acquired parental experience is no less important. Each family has a unique experience, its forms and content depend on many intra-family and external factors, and the exchange of this experience undoubtedly enriches parents. It’s not for nothing that we – specialists – so often hear from parents asking us to introduce them to other families. I always want to know how other parents coped or are coping with this or that situation, how they act in this or that case, what they do or, conversely, what they stop doing so that the baby develops successfully, learns to move, communicate and simply live in this big world.

Dialogue with a specialist cannot replace dialogue with other parents, but they can complement each other perfectly!

Here is a book written by the mother of a girl with Down syndrome. Sincere and truthful, informative and very positive. Yes, sometimes it was and is not easy, yes, not everything in the life of mother and daughter went smoothly and quickly, but love, sincere and reasonable care and help allow them to go through life, mastering new milestones.

I would like to draw the attention of readers to the fact that this book contains a large and painstaking personal experience of motherhood, based on careful collection of information and its processing in relation to a specific family situation. The value of this book is that it, without at all pretending to be a guide to action, allows you to pay attention not only to typical situations and problems, but also to those methods that make it possible to analyze what is happening, make a decision and develop some tactics of action and - most the main thing is to carry out these actions, believing in success and not giving up on days of failure.

I would very much like to conclude this short preface with a quote from this book, which, in my opinion, very accurately reflects the essence of the author’s message, addressed to both parents of special children and any other readers.

“I don’t think that my decisions are the only right ones. But the main thing I want to say is that efforts always produce results. Even if they are not immediately visible, and this makes you want to throw up your hands, howl at the moon, or simply shoot yourself. In addition, it turned out that almost all the problems that parents of children with diabetes face are... the same ones that parents of “normative” children face. Perhaps solving them takes longer and leads to less results. But the essence of the problems – common to everyone – does not change from this.”

I sincerely hope that this book will support those who need it, that it will give them optimism, patience and strength so that they can accept and love their unusual child and move forward with him along a difficult, but very interesting and joyful path of development and knowledge of the world!

Elena Viktorovna Pole

Director of the Downside Up Early Help Center

When Mom was expecting Hypo Popo, she really wanted Hypo Popo to be special. At the very least, terribly talented and very beautiful. And for sure - the baby turned out to be the most special in the world.

My daughter Polina was born in an ordinary Israeli hospital. In Israeli because I believed in local “average” medicine more than in Russian medicine of the same level. I planned that I would spend a couple of months after giving birth in Israel, and then return to Russia, where my family, work and generally everything I loved remained. Having been monitored throughout my pregnancy in Russia, I flew to Israel, accompanied by my husband, at the beginning of the ninth month to give birth. And at the 37th week, a little ahead of schedule, completely independently, even without pain relief (the vaunted Israeli doctors simply did not have time), she gave birth to a girl of average height and weight. Polina.

The birth was successful, the baby was healthy, and none of the hospital staff noticed any problems. Only a day later, the head doctor of the department called me and my husband (he had no right to talk to one parent, two were needed). I held Polya in my arms, and the doctor carefully made sure that when I fainted, I would not drop the child. And he said that pediatricians believe that the girl has Down syndrome. This diagnosis has not yet been confirmed, they took blood for analysis, the result needs to wait about a month. I didn't fall. I just started crying and have been crying since then, with short breaks, for several months. Of course, during the allotted 30 days before the official receipt of the test result, I did not believe that this was even possible. A child with Down syndrome? This could have happened to anyone, but not to me.

Later, while reading the relevant literature, I learned that back in 1969, psychologist Elisabeth Kübler-Ross formulated five stages that people go through after severe stress associated with health problems (their own or loved ones).

Disbelief, an attempt to pretend that nothing is happening.

Despair: why with me???

Searching for a miracle solution that will correct the situation.

Depression and apathy - no matter what you do, nothing will change, it’s not worth trying.

Acceptance of the situation.

My experience is the rule rather than the exception. I went through all the stages and now I can finally calmly say that my family has a girl, Polina, who has Down syndrome. This is not the best possible situation. It's just what it is. I know many mothers who are stuck at one of the above stages, and it is their child who suffers the most from this. This applies, of course, not only to parents of children with diabetes (as I will henceforth call Down syndrome for brevity).

My heart shed tears when I heard my dad, an adult and smart, prove to the psychologist that his son was only “a little bit autistic.” A five-year-old boy did not speak and did not make much contact with others...

Well, how can he develop adequately if parents stubbornly pretend that nothing is happening and do not help their sick baby? Or do they continuously treat him in all legal or illegal ways, instead of going down to earth and working on development - what can really advance the child? Or are they apathetic and hostile towards the child? This is a direct path to mental pathologies in both adults and children.

Let us return, however, to the moment of Polina’s birth. The next “official visitor” to come to me was a social worker. Due to my poor knowledge of the language, I had difficulty understanding her. But I still remember something. She said that what happened to me looked like a severe injury. The wound will heal, but the scar, of course, will remain forever. I will get used to the girl and love her for who she is, I will understand what she likes and what she doesn’t, what her character is... Of course, she will never be ordinary, but she will always be loved, and I will stop treating her problem as if it were my own problem. the worst thing in your life. Then I sat opposite the social worker and thought: “It’s easy for you to say... I probably have healthy children myself... how can you even imagine that I will get used to such a situation?” Only now do I understand that, first of all, she was right. Besides, what else could she tell me?

“I love dogs”, “I like my job at McDonald’s”, “I like going to the cinema with my friend Kitty”, “I support Chelsea”, “I like James Bond”... ordinary opinions of ordinary people, not much different from you and me - with only one difference: all these people, captured in a special photo album by photographer R. Bailey, were born with one extra chromosome.

The nuclei of human cells contain 46 chromosomes - 23 pairs. Sometimes, during the process of meiosis - a special division leading to the formation of sex cells - one of the pairs does not separate, the result is an egg or sperm with not 23, but 24 chromosomes, and when it meets a cell of the opposite sex, the result is a zygote not with 46, but with 47 chromosomes. Why is this happening? No answer yet. But it’s definitely not because people drink, smoke, take drugs or are in an area of ​​radioactive contamination - such an anomaly occurs in about one embryo in 700 (children who are allowed to be born are slightly less - one in 1000). The only pattern noticed so far is that in women over 35 years of age the probability is slightly higher, but no one guarantees that this will not happen to a younger mother.

An extra chromosome causes a number of changes in the structure and functioning of the body. Some of them are visible to the naked eye: a flat face, a flat back of the head, an arched palate and decreased muscle tone, as a result of which the mouth may be slightly open, a shortened skull, an additional fold of skin on the palm, a short nose. One of the most noticeable signs is a fold of skin at the inner corner of the eye, which is somewhat reminiscent of the shape of the eyes of representatives of the Mongoloid race. Because of this symptom, the English doctor J.L. Down, who described this syndrome in 1862, called it “Mongolism.” This term - as well as "Mongolian idiocy" - was used until 1972, when, after many years of struggle, it was finally recognized that the pathology cannot be equated with racial characteristics, and the modern name - Down syndrome - was established.

This chromosomal anomaly is not limited to external signs - heart defects, strabismus, leukemia, hormonal disorders often go hand in hand with it, therefore, regular medical examinations by relevant specialists are mandatory. The immune system is quite weak, so a person can suffer from infectious diseases more often and more severely. Once upon a time, for these reasons, people with Down syndrome did not live long - but modern medicine allows them to live to at least 50 years. Unlike Down syndrome itself, all this is completely treatable. Sometimes Down syndrome is accompanied by hearing impairment - in this case, the help of an audiologist is necessary.

What frightens parents most is developmental delay. Such children begin to hold their heads only by three months, sit down by one year, and walk no earlier than two years. Such people lag behind both in mental development and in speech (the latter is explained not only by delayed mental development, but also by the special structure of the oral cavity and reduced muscle tone - so classes with a speech therapist are mandatory).

As for the mental retardation of people with Down syndrome, it is greatly exaggerated. A severe degree of it is observed only in a few, and in most cases we are talking about a moderate or mild degree of decline in intelligence. Of course, in this case, too, a severe form with a complete inability to adapt to independent life among people can be “organized” - for this it is necessary to separate the newborn from his parents and place him in a special closed institution... which is what they have been doing for many years, thereby supporting the myth of the absolute unteachability of children with Down syndrome and their inability to adapt socially.

Meanwhile, if such a child remains with his parents, if he is taught using special methods, then his development can proceed relatively successfully. Of course, he will not graduate from university (although such examples are known), but it is possible to develop the skills of self-service and life in society, just as such people are quite capable of mastering some professions.

People with Down syndrome are often called “sunshine children”, attributing to them increased smiling and constant presence in a good mood. This is not so - of course, mood swings are inherent in them just like all people, but they have some characteristic character traits: they are obedient, patient. What is absolutely not characteristic of them is aggressiveness.

What is the position of such people in society?

A. Hitler included people suffering from “Mongolism” in his T-4 eugenics program, also known as “Action – Death of Pity”. Many modern doctors fully agree with the Fuhrer in his fight for the purity of the human race: as soon as an examination of a pregnant woman reveals Down syndrome or such a diagnosis is made to an already born child, a massive psychological attack on the parents immediately begins - “Have an abortion / write a refusal, you are still young , give birth to another child – healthy, why do you need a disabled person,” etc. Often “good” relatives and friends get involved in the “processing” (a woman can also be intimidated by the fact that her husband will definitely leave her with such a child). It is not yet proposed to kill children who have already been born - but there are already “progressives” pushing the idea of ​​the so-called. “postnatal abortion”... Not all parents can withstand such psychological pressure - many go for an abortion or abandon their children. As a result, children end up in orphanages where they do not receive proper development, thereby supporting the myth about the complete unteachability and social inadaptability of people with Down syndrome, which frightens new parents... such a vicious circle!

People who have visited Western countries notice that there both children and adults with Down syndrome can be found in stores, on the streets, and anywhere, while we don’t seem to have them - not because in the West Such people are more often born, but because they are not isolated from society there. Not every Western experience is worthy of imitation, but this is exactly what can and should be adopted. Moreover, children with mild mental retardation, with proper development, are quite capable of attending mass kindergartens and studying in regular schools.

Is it possible to introduce inclusive education for children with Down syndrome in Russia today? Perhaps not - and the point here is not only that not all teachers know how to work with them. Bring such a child to a regular kindergarten - not only will his peers begin to terrorize him, but his parents will also overwhelm the director, and there will be a LOT of angry appeals: “Why THIS is studying with our children!” However, this is not the only manifestation of an inadequate attitude towards people with disabilities in general, and towards people with Down syndrome in particular. How the parents of such children are tormented by the unhealthy interest shown by almost every acquaintance (even casual ones) - for some reason everyone is extremely interested in finding out “what is it because of”, “can it be cured”, “did you know about this before birth” , and most importantly - “it was probably hard for you to find out about this?” Some also begin to express condolences... truly, encountering a disability - be it Down syndrome or something else - is a wonderful “test” of tact, politeness, and simply humanity.

During the papal audience, a girl with Down syndrome stood up from her seat and walked towards Francis. The guards wanted to send her back to her mother, but Dad invited her to sit next to her. He ended the audience holding the girl's hand.

Have you ever wondered why in Europe you see people with Down syndrome (DS) much more often than in Russia? They work there as cashiers and help in stores and gas stations. In Spain there is an absolutely amazing person, Pablo Pineda. Born with DS, he received a teaching diploma, a bachelor of arts degree, and a diploma in educational psychology. He became the first person in Europe with diabetes to receive a university education. He starred in the autobiographical film “Me Too” and received the “Best Actor” prize for it at Cannes in 1996. Here are ten more people with diabetes who have proven that barriers do not exist.

But if you don’t see such children among us, you don’t think that we are having fewer of them, right? Did you know that on average one in 700 children is born with diabetes? Do you know how many of these people you would see on a regular subway ride? It’s just that they are either sent to an orphanage (which is practically a sentence) or they sit at home. But the level of development of a society is determined precisely by how it treats the weakest - the elderly, the disabled, people with various types of disabilities.

My friend, the wonderful designer Sveta Nagaeva, has a son, Timur, with Down syndrome. The first screening showed the probability of having a child with this syndrome is 1:150. Less than one percent. It was scary. But she and her husband decided not to do a specialized test, since in any case they would not have had an abortion. Then they started searching the Internet for all the information about children with diabetes. And it became clear that this was not a sentence. That you can live with him and raise a wonderful child. It's hard. It's like conquering Mont Blanc. At the foot of the mountain they look at you with sympathy. You follow your own route, for some it is smooth, for others it is almost vertical. But every time you take your breath away when you once again reach the local peak. You make the pass, look around and realize that it was worth it. Even if it wasn’t always easy for you on the road, even if you cursed everything and everyone and this entire climb.

You will always ask yourself how your life would have turned out if you had not started climbing. And the higher you go, the richer and fuller you will feel. You will learn to live one day and a whole life. It's so easy, you just have to start.

But the worst thing is that people are afraid of people with Down syndrome. Because they don't know anything about them. Because they are used to living with people like everyone else. And Sveta decided to write a book about it.

A book about Chromosonya. Explain on your fingers how Down syndrome appears. And why are children with him called sunny children.

And also about the experience of the mother of a sunny child. Read
When people love each other