A thousand paper cranes to read. Sadako Sasaki

Topics about people with Down syndrome are always touching and, as a rule, concern questions about their well-being. Here are some answers.

Can they have their own children?

In fact, people with Down syndrome are rarely able to conceive. However, according to americanpregnancy.org, from 15 to 30 percent American women with trisomy 21 are reproductive.

True, they risk having a child with the same disease. Therefore, it is necessary to consult a geneticist.

Can spouses with Down syndrome become parents?

This story of a woman with Down syndrome proves that true love can overcome all obstacles. She met a man with the same form of Down syndrome, and as a result romantic relationships they had a son with the same disease.

And this despite the popular belief that such people cannot have their own children!

Lisa was 29 years old when she met a man, the future father of her child Nick. By then she was living on her own, and her mother Patti fully supported her decision. One day the moment came when Patty received a message that she would become a grandmother.

This story showed that people with Down syndrome can still have their own children. Lisa's pregnancy was difficult, the baby was born at 4 weeks ahead of schedule. Mom and grandmother decided to raise Nick together, so he believes that he has two mothers. And here is how he speaks about his biological mother (the text is posted on downsyndrome.org.au):

I have two mothers. My mother Lisa is my greatest future. She keeps me alive and she gives me love, she gave birth to me and she gave me special needs, she is wonderful and beautiful.

A woman with Down syndrome gives birth to a normal child

In 2010, the international magazine Journal of Infertility and Fetal Medicine, Vol. 1, No. 1.45. reported a case in which a woman with Down syndrome gave birth healthy child at 38 weeks of pregnancy by cesarean section. The mother was 25 years old, and the baby’s father had a normal karyotype (a karyotype is a diploid (2n) set of chromosomes. A karyotype refers to the structural features of the complete set of chromosomes of an individual or species).

These stories prove that family support and the desire to have children is the most important thing required in such cases. After all, people with disabilities also have the right to happiness.

As you know, Down syndrome is a chromosomal disease associated in 96% of cases with trisomy 21 chromosomes. Normally, human somatic cells have 46 chromosomes (23 pairs). Patients with Down syndrome have 47 chromosomes in their cells, because instead of two there are 21 chromosomes, there are three. This is due to chromosome nondisjunction during meiosis.

Patients with Down syndrome are indeed characterized by low life expectancy, and this is primarily due to congenital malformations of internal organs, including heart defects, intestinal defects (duodenal atresia), and kidney disease. Improper functioning of these extremely important organs leads to death in the first years of a child’s life.

In addition, patients with Down syndrome are characterized by weak innate immunity, the cellular effectors of which are phagocytes (neutrophils, monocytes, macrophages), NK cells or natural killer cells, eosinophils and auxiliary (mast, dendritic) cells.

Humoral effectors include cytokines, interferons, blood plasma proteins, the complement system, as well as secretions secreted by mucous membranes (lysozyme, mucin, lactoferrin, peroxidase enzyme).

Interferons (IFNs) are natural antiviral proteins and cytokines that include a protective program during viral cell damage. They, like all the other innate immune effectors listed above, are ready to perform their functions immediately after the birth of the child. There are 3 main classes of interferons: α, β and γ. The first two are cytokines that block the stage of virus penetration into the cell and stimulate the synthesis of antiviral proteins by cells. Thus, these two classes prevent the spread of the virus throughout the body's cells and indirectly inhibit the synthesis of viral proteins necessary for its replication. In addition, these interferons are antiproliferative for cancer cells. The term "antiproliferative" implies inhibition of cell division, which is important in rapidly growing tumors. The third class of IFN, γ, is responsible for the activation of immune cells during the implementation phase of the immune response.

Interferons α and β realize their effect through interaction with the same receptor, encoded by chromosome 21. What's the end result? And as a result, an excess of receptors (3 chromosomes) and increased sensitivity of cells to interferons α and β, which leads to an enhanced antiproliferative effect. It would seem that everything is fine. However, there is also reverse side medals. IN in this case– this is an immunosuppressive effect, manifested in the form of lymphopenia (decrease in the number of lymphocytes in the blood) and atrophy of the thymus (thymus gland) due to the provision of an antiproliferative effect on the cells of the immune system. In this case, a compensatory reduced level of α and β interferons is found in the blood (the lower the level of INF, the less their biological effect), but this also negatively affects the body of patients with Down syndrome - frequent pneumonia, severe childhood infections.

In addition, patients with Down syndrome are characterized by insufficiency of DNA repair systems, i.e. the inability of cells to repair chemical damage and breaks in DNA molecules on their own, using special enzymes. It is believed that 80% to 90% of all cancers are due to a lack of DNA repair. That is why patients with Down syndrome are increasingly suffering from leukemia.

Weak, altered immunity, insufficiency of DNA repair systems, high risk of viral, bacterial infections, leukemia, as well as the limited compensatory capabilities of all organ systems due to congenital malformations, together give a low life expectancy to patients with Down syndrome.

It is still shrouded in myths and prejudices. Many are convinced that Down syndrome is a profound mental retardation or a rare disease that needs to be treated. That such children are born to alcoholics and drug addicts and will never appear to young and healthy parents. That people with Down syndrome are unteachable, aggressive, or, on the contrary, always happy with everything. That children with Down syndrome are better off growing up in specialized closed institutions and that they have no place among ordinary children...

Such myths can be listed for a long time. But is it necessary? After all, like all speculations, they arise only from a lack of information.

Facts

Down syndrome is the most common genetic disorder. It cannot be “cured” and it cannot be “infected”, because it is not a disease. But people with Down syndrome often have reduced immunity and a whole series concomitant diseases, and their life expectancy on average is shorter than that of others. Every 700th child in the world is born with Down syndrome. This ratio does not depend on the nationality of the parents, nor on their health, lifestyle or income.

Children with Down syndrome actually have a more difficult time developing than their normal peers. But with the support of their family and the help of specialists, they, like all kids in the world, can learn to walk and talk, read and write, draw and ride a bike, play music or sports, go to school. kindergarten or to school. They can also be friends, get carried away, fall in love, be happy and make others happy. Like any of us, each person with Down syndrome is unique. He has his own character, his own capabilities, his own interests. A person with Down syndrome may become famous athlete, How Andrey Vostrikov And Maria Langovaya, actor, like Pablo Pineda And Sergey Makarov, an artist like Raymond Hu or a teaching assistant, like Maria Nefedova. Or simply someone’s – and yours too – child, friend, neighbor, acquaintance. And, of course, he is worthy of respect, if only for the fact that he daily overcomes difficulties unfamiliar to us.

Yesterday and today

Unfortunately, not everyone knows about this. Therefore, even today in Moscow, almost every second child with Down syndrome is abandoned by parents at birth. In other cities, the percentage of refusals ranges from 20 to 80. And even 15-16 years ago in family of origin only five percent of such children were caught!.. This is where another popular myth comes from: in Russia there are much fewer people with Down syndrome than in other countries. Not on the streets, not in transport, not in cafes, not in offices. While abroad, a person with special needs can easily turn out to be your postman, waiter, hotel administrator, child’s classmate or office colleague. With us for many years people with Down syndrome had practically no opportunity to leave the system: maternity hospital - hospital - specialized children's home - - specialized institution for adults.

However, few lived to the end. After all, the orphan system destroys even the strongest and healthiest. What can we say about babies with reduced immunity and developmental features...

Those few who ended up in the family still found themselves isolated: they were not accepted into kindergartens and schools, other children were taken aside at playgrounds, looked askance on the street...

What has changed today? Much: kindergartens and schools have appeared that are ready to accept children with Down syndrome - both correctional and regular, inclusive. The media willingly started talking about Down syndrome and famous people, and parents of special needs children no longer hide the diagnosis from family and friends. There are more specialists - doctors, teachers, psychologists, who know the truth about the potential of children with Down syndrome. And most importantly, a Russian one appeared charitable foundation Downside Up has been promoting this change for 16 years. Yes, a lot has changed. But not everything. After all, in maternity hospitals it is still sometimes heard: “The child has Down syndrome. Write a refusal and you’ll give birth to a healthy one.” Although changes are taking place here too: last fall, Olga Golodets instructed the Ministry of Health to pay attention to such cases and recommended that doctors stop advising parents to abandon their children for health reasons. As before, people thoughtlessly use the word “down” as an insult, without fear of hurting someone’s feelings and without thinking that this is, in fact, the name of a doctor. As before, myths often replace facts. Cases of adoption of children with Down syndrome are still very rare in Russia... But in other countries, attitudes towards people with special needs have not changed overnight. It just happened several decades earlier than ours.

Take a step

Any, even the most long road starts with small step. If you are reading this article, it means you have already done it. And I'll tell you a story. One out of thousands. I think that after reading it, you will no longer laugh at a crude joke “about downs.” Or maybe you’ll take even more important steps—we’ll talk about them at the end of the article.

Nastya and Lesha. She was 19 years old, he was 23. A beautiful young couple. Unplanned but happy pregnancy. Excellent results of all tests and examinations. The long-awaited birth of a daughter. And - silence.

“All the doctors suddenly fell silent. I saw that they were bending over her and didn’t understand what was happening,” Nastya recalls. Later pediatrician told Nastya that the newborn girl was suspected of having Down syndrome. A blood test is required to confirm.

“But don’t be upset,” the doctor added cheerfully. “After all, there are defective toys - you can return them to the store.” The world shook and shrank to the size of a microscopic particle called a chromosome. 46 or 47 chromosomes? My whole life now depended on it.

Nastya waited a week for the test results. Each of these days will remain in her memory forever. Other mothers brought their children for feeding, but she didn’t: “Why do you need it? You’ll get used to it!..” Wherever she went: for procedures, in the corridor, she heard: “Refuse immediately, he’s a freak. Have you seen her diagnoses?! Young - you will give birth to others. Otherwise your husband will leave, your friends will all turn away, you will be left alone, and with such a burden.” Barely recovered from childbirth, unable to meet her family, she approached the children's room and peered into the tiny face. The doctors told her: “Look, it’s all written on her face!” And Nastya saw small child- with rosy cheeks, huge blue eyes and blond hairs standing in a “mohawk” on the top of the head...

She already knew what it was - Dasha. After all, that’s the name they gave her back when she was in her stomach. Daughter Dashenka is the most beloved, the happiest...

There was a discharge department under the window of Nastya’s room. And every day she saw through the window how joyful mothers with children in their arms came out, how their relatives greeted them... Nastya could communicate with her family only by video phone. Just as shocked and confused as she was, they didn't know what to say. Everyone was waiting for the test results. Meanwhile, the doctors, it turns out, personally met with each of them in turn: with the husband, mother, mother-in-law. And, like Nastya, they were informed of dire predictions: “This is not a child, but a vegetable in the garden: he will never walk, will not speak, will not recognize any of you. And in general, he will die in your arms. Take him home and he will die.” A week later confirmation came - Dasha has Down syndrome. On the same day, without consulting Nastya, the family removed all the children's things from the house - a stroller, a crib, the first tiny clothes... And a little later, under constant pressure from doctors and in the presence of a lawyer, Nastya and Lesha wrote a waiver of the child. Each one separately, because they never had the opportunity to meet and talk with the whole family. The woman lawyer was very lively and cheerful: “Well, we found something to grieve about! Young, healthy, give birth to a dozen more and forget everything how bad dream" Dasha’s parents met only when Nastya walked out of the doors of that same discharge department. One.

They told friends and acquaintances that the child had died. And we tried to live as before. “We managed to pretend to others, even to each other. But in front of myself... I was then ready to go to any job, do anything - just not to think...” Nastya still remembers her first visit to the orphanage. They drove along with Lyosha - and from the street they heard a child’s cry. For some reason, it immediately became clear that it was Dasha. She lay in the infectious disease ward and cried - her leg was stuck between the slats of the crib. She couldn’t get her out, and there was no one to help - there wasn’t enough staff for everyone... Then it was easier to come, we got used to it. It was more difficult to leave. “She lay there and looked at us. And we had to turn away from this look and leave...”

Love syndrome

One day Nastya realized that next time she simply couldn’t leave like that - without Dasha. The doctors said that it was possible to take the child home for the weekend. Then Nastya took a vacation and took her daughter for a whole month. “When we were dressing her, the nanny decided that we were dressing her for a walk, as usual. And when she suddenly realized that we were taking her home for a stay, she suddenly burst into tears: “Lord, I wish you, Dasha, would never come back here again!” The nanny did not know that her words would be prophetic. However, no one knew this then. And Lyosha was categorically against taking the child away, even temporarily. Visit, help in some way - yes, but don’t take on such responsibility. They even agreed that they would live separately for this month: Nastya and Dasha with their mother, and Lyosha with hers.

All month Nastya waited for other doctors’ predictions to begin to come true: when friends and relatives began to turn away, when they would point fingers at her daughter. But everything was different: the whole family immediately fell in love with Dasha, and her husband came every weekend and fussed with her. On the street, it was no longer Nastya who looked longingly into other people’s strollers, but people who looked at her in the stroller with the words: “Oh, what a miracle! So nice!” During this month, one-year-old Dasha, who upon arrival home could only lie down, learned to sit up on her own and walk by the hand, changed a lot... Meanwhile, the month was coming to an end. “Can you return her?” — Nastya’s mother once asked. Of course, Nastya couldn’t. But Lyosha could not change his decision. She persuaded him for a long time, citing a variety of arguments: “I just can’t give her away now. She needs to at least be supported, allowed to get stronger...” But then I realized that you cannot demand from a person what he cannot give. “An innate maternal instinct spoke within me, which Lesha could not have had. And I didn’t have time for arguments and insults: I had to raise a child.” Lyosha and Nastya officially divorced. Later, Lyosha will remember this - Dasha’s abandonment and divorce - as the biggest mistake in his life. However, he still continued to visit Nastya and her daughter and help them.

Dasha grew and developed. Nastya is already accustomed to the fact that even doctors, seeing her, are amazed: “And this is a child with Down syndrome?!” But we didn’t even know that this was possible, we were taught something completely different...” But still, the first place where she heard the words: “What is your beautiful child! there was a Center early development Downside Up Foundation. Nastya accidentally found out about it from other parents, came with two-year-old Dasha to classes - and realized that it had begun new life. “It was there that I finally began to ‘let go’. And not only me, but also Lesha, because he also came with us. There we saw other parents, other children - both young and older - and were finally convinced that it was not scary. We saw what a huge amount of work was being done to help us - and we realized that we were not alone.”

Dasha recently turned 15 years old. Having completed her studies at Downside Up at the age of seven, she studies in a regular school, on the basis of which a specialized class has been created for children with special needs: they take some subjects together with everyone else, and Russian and mathematics follow an easier program. She has a big one loving family: mother, father, grandmother, great-grandmother, beloved little sister Anechka.

At the invitation of the First Lady of Great Britain, Dasha went to London to light the lights on the Christmas tree, participated in photo shoots for the “Love Syndrome” calendar, and talked with journalists and celebrities. She is very polite and caring, it is easy and pleasant to be with her. Dasha finds common language with everyone, but with special tenderness she treats children and elderly people who answer her in kind. Nastya thinks that Dashina future profession will be associated with caring for people. And it’s okay that so far in our country people with Down syndrome have practically no employment opportunities. This is the next step and one day we will definitely take it.

After all, if until recently the only officially employed person with Down syndrome in Russia was Maria Nefedova, an assistant teacher at Downside Up, now everyone has learned the story of Nikita Panichev, who works as an assistant cook in one of the Moscow coffee shops. And recently, a case of employment of a person with Down syndrome occurred in Omsk - a young man, 20-year-old Alexander Belov, began working as a cleaner to prove that special people can also be useful to society. Well, and at the same time save money for a course of dolphin therapy and new jeans.

And Nastya and Lyosha are still together. They began to live as a family soon after Dasha went to classes at Downside Up. And after some time they got married again. This time - getting married in church. Parents still come to their house and call them, faced with the same situation and not knowing what to do. Nastya and Lyosha firmly made it a rule not to convince or persuade anyone of anything. They only tell their story: only the facts, without hiding anything. Of course, Nastya has been asked the question more than once: “Have you ever regretted your decision to take the child?” You can probably ask it only without seeing them all together: Nastya, Lesha, Dasha, Anya...

But Nastya simply answers: “No, not once. The only thing I regret now is that I didn’t take her right away, that we didn’t live together for the first year. And then, as soon as I brought Dasha home, even though it was difficult and scary, it somehow immediately became clear: it was bad before, but now everything is fine.”

How to help special people?

Several ways to make March 21 a truly special day, and the life of special people - ordinary:

— give a lesson, a package of specialized literature or a home visit from a specialist to children with special needs>>

- wear an orange tie, scarf or neckerchief in support of people who are also called “sunny” - and tell others about this day.

- smile at a special person.

After all, people with special needs suffer most not because of their health conditions, but from the prejudices of others.