People often use the term "Down's disease", often saying that this disease is incurable. Others believe that there is Down syndrome, and there is Down disease, and the child’s condition and the chances of recovery depend on this. But it is worth noting that such statements are incorrect and absurd. In fact, Down syndrome is not a disease. The term "syndrome" means a certain set of features or symptoms. Such features were first described in 1866 by John Langdon Dun, which is why the syndrome has such a name. And only after many years did scientists understand the cause of the syndrome - it is an extra chromosome in the human genetic code. Typically the body contains 46 chromosomes. Children with this syndrome have 47 of them - the 21st pair contains one more additional one. Therefore, the diagnosis is made by a doctor using a blood test.

What are the reasons?

There are still no reliable facts about the reasons for the appearance of another chromosome. Such children are born in equal numbers in well-developed countries and in poor ones, in the families of scientists and in the families of the unemployed. In fact, it is no one’s fault for the birth of a child with Down syndrome. As well as the guilt that a person was born this way - even more so. Such a child is the same as another, he just has one more chromosome, one “small” chromosome. However, because of such a small difference, people usually put big boundaries between children with Down syndrome and normal children.

Features of children of the Sun

Unfortunately, this extra chromosome provokes a number of physiological characteristics, due to which a child with Down syndrome develops more slowly than his peers. Previously, it was believed that children diagnosed with Down syndrome were too mentally retarded and could not be taught. However, modern science, after a number of studies, claims that all children are different and Down syndrome has varying degrees of severity. Most children can easily learn to speak, write, read, walk, and do many of the things that ordinary children do. The development of such children is facilitated by an atmosphere of kindness and love in the home, and corresponding special programs.

Children of the Sun and society

Parents and all relatives should treat children with Down syndrome with love and patience, work with the child through an early intervention program, provide proper medical care, and then one can hope for positive improvements. Society should experience tolerance towards such people, however, often children of the Sun face either ridicule, indifference, or pity (they only pity the weak, it’s better to help or not interfere with such a child!). Therefore, if your child is normal, instill in him the quality of tolerance from childhood towards those people who differ from us by only one chromosome.

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

Down syndrome in children is often determined at birth - by the sum of certain physical characteristics characteristic of people with this genetic pathology.

Some children have only a few signs, while others have almost all of them. Because some of these features can also be seen in people who do not have Down syndrome, genetic testing must be done to confirm the diagnosis.

Signs characteristic of children with Down syndrome:

• low muscle tone (babies are born “flaccid”);
• brachycephaly (short skull);
• flat facial features, very small nose;
• raised up outer corners of the eyes (oblique cut);
• epicanthus (vertical fold of skin near the inner corner of the eye on the upper eyelid);
• very small, irregularly shaped ears;
• short thick neck;
• the palm has one deep transverse fold in the center;
• superflexibility (due to hypermobility of joints);
• crooked little finger;
• too much distance between the big and second toe;
• enlarged tongue and half-open mouth;
• short fingers and limbs.

Other health problems associated with Down syndrome

About 50% of children with Down syndrome are born with heart defects, so severe that the child may experience heart failure soon after birth. However, not all heart defects are diagnosed by external signs, so all children with Down syndrome should have an echocardiogram within the first few months of life to determine whether the child has or does not have heart problems.

Minor defects can be compensated for with medications, but serious defects of the cardiovascular system require surgical intervention.

People with Down syndrome have more hormonal problems than the general population. About 10% of children with Down syndrome and 50% of such adults suffer from thyroid pathologies. The most common disease among people with Down syndrome is hypothyroidism, a condition caused by a long-term, persistent lack of thyroid hormones. Hypothyroidism can be corrected with medications.

More than half of children with Down syndrome have vision problems: strabismus, nearsightedness, farsightedness or cataracts. In many cases, the situation can be corrected with glasses or surgery.

Hearing impairment is also very common in children with Down syndrome, so they should be regularly examined by an ophthalmologist and ENT specialist to promptly identify problems with vision and hearing. Otherwise, you will have to solve the problem with speech development, which will appear as a consequence of pathologies of hearing and vision.

Patients with Down syndrome have a much higher (15–20 times) risk of developing leukemia compared to ordinary people. Moreover, the disease, as a rule, manifests itself during the first three years of a child’s life, but has a higher cure rate than the statistical average. A temporary form of leukemia in children with Down syndrome may also develop immediately after birth, but it usually goes away on its own within the first two to three months.

Approximately 10–12% of children born with Down syndrome also suffer from gastrointestinal abnormalities, which usually require surgical intervention.

About a quarter of adults (over 35 years of age) with Down syndrome show signs of Alzheimer's disease (dementia). Typically, Alzheimer's disease does not develop until the age of 50, and only 5-10% of adults over 65 years of age experience its symptoms.

Call your doctor to talk about Down syndrome if you are pregnant or planning a pregnancy and have (or your partner's) family history of having children with Down syndrome.

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?