Fyodor Sergeevich looks at Masha in love - but the 11-year-old girl is only occupied by the world of Minecraft on the smartphone screen, so the family's favorite, a dog with smart eyes, has to huddle at her feet. A spacious, bright room is easily blown by the summer wind, and Masha is not hot. She is not allowed to go outside - in the sun she will blush deeply, like a person who has been steaming in a bath for a very long time. Yes, the girl does not even seek to walk with other children - as a true introvert, she does not suffer at all from forced imprisonment. In addition, at home she has a company of envy - three dogs and three cats.
An impressive box of creams belongs only to Maria - without them, her skin will exfoliate strongly and become covered with real scales, as if she had been burned. To the touch, one of the creams is the fattest oil in the world, which still remains on the fingers in a dense layer, despite attempts to wipe it off with napkins. And it is absorbed into the girl's skin instantly - and her palms look dried out even after such a cream.
Masha has ichthyosis. This is a genetic disease that primarily affects the skin, sometimes the bronchi and the gastrointestinal tract, Yulia Maksimova, chief geneticist of the NSO, head of the department of medical genetics and biology of NSMU, told the NGS correspondent. Only a hundred people in the Novosibirsk region have such a disease, in different variations.
“There is no severe form of ichthyosis or a mild [form] - there is one that we were able to correct, and one that we could not correct. If we do not correct, that is, we do not help [the person], it becomes severe.
It's like pneumonia - if left untreated, you can die from it,”says the geneticist.
The car's mother Natalya Antich did not know anything about ichthyosis when she was stunned by this diagnosis in the maternity hospital - the eldest son Danil, who was born 5 years earlier in his first marriage, was not sick with anything like that.
“In fact, the brain forgets the bad. When I look at her small, one-year-olds in the photograph, I want to turn it off and never watch it flood again!
In babies, when they are born with this kind of ichthyosis, they seem to be covered with plastic wrap. Their ears are as small as buds, and then within a month they grow to their normal size, although they are still different. The eyelids are slightly twisted.
I must say, our Central Clinical Hospital, the maternity hospital, is great, they immediately diagnosed it, however, they did not know at all what to do with it - at that time,”recalls Natalya.
In the mid-2000s, there was practically no information about ichthyosis on the Runet, and the family began to look for people with such a disease on English-language sites - Natalia's sister, an English teacher, helped. The stories of people, mostly Americans, and the description of the symptoms have become a life-saving instruction for the relatives of the newborn Masha, and even for doctors.
“We went with her very little to the hospital - on the fourth day, or something - she was barely alive. In Urine the doctor - the head of the department - had pumped out such a cub a few years earlier. And she knew what to do. And everything is very simple there - when a baby is born, his skin is like a single wound, and they need to immediately start antibiotics. And you need to coat with cream. It's all very easy, but only when you already know all this. Outwardly, yes, it looked scary.
I myself am a physician in the past, a nurse, and I understood her condition well enough. Before she was brought back to life in the hospital, I had this desire [to say]:
"Leave the person alone, let him die in peace, do not touch." She was like a rag - severe dehydration, pneumonia Droppers were put in, injections - she did not react. At some point, she began to cry from the injection - hurray, thank God! Has come to life!"
- says Natalya Antich.
She says she is calm about the fact that people with ichthyosis are called "fish", but
Masha herself, suddenly distracted from the screen of her mobile phone, readily defends herself: "We are not fish!"
Approximately six months after birth, the life of the Machine's family had already settled down - even asthma, atopic dermatitis and a cold, when the girl's body temperature rose to 41 degrees, was no longer so frightening. The main thing is that the parents already knew how to deal with it and treat it. They found out, just in case, that the symptoms have nothing to do with pets - Masha is not allergic to them.
With creams, of course, I had to go through a real quest - one strongly stings the skin, the other does not work, the third is not greasy enough. They ordered the necessary ones in the end on Amazon - Americans with ichthyosis wrote about them - and the whole family suffered when the creams went too long, then they had to get medicines through friends.
Now, in 2018, online orders have become much easier, Maria's mother admits. In addition, it is easier to find people with ichthyosis through social networks, to meet and discuss painful issues. So, for example, Natalya found a girl from a parallel class at her school, who also suffers from ichthyosis and does not suffer from it at all - she got married and gave birth to a son.
“Masha, to put it simply, has no sweat and sebaceous glands in humans. The skin is terribly dry and the problem is that the skin does not cool down. The body cools down as much as it can, but in such a way as to sweat and cool down - this is not the case.
We get out to the village, walk in the evenings. You can wear wet clothes on yourself, but this is unpleasant. The skin is very sensitive.
The washing process is also here - it is not so much painful as it is special. A whole epic - to wash Masha It takes about an hour - with terry towels, pumice stone for the heels,”explains the mother.
Such skin also has advantages - for example, the girl will not have acne, as a friend happily told Natalya.
Classmates at school quickly got used to the girl's peculiarities - at first they just looked and bombarded her with questions. Masha does not really like the company of unfamiliar people and was in no hurry to satisfy their curiosity - she literally hid under her desk.
“Masha is unsociable - she doesn’t need a lot of fun (in confirmation, the girl shouts:“I hate it!”- MM), she only recently had two friends, the same introverts, appeared. I said [to my daughter]: "You understand that you would be surprised too, they have never seen such a person in their lives! Just say that you were born like that, and that's it."
They used to ask: "Why do you have hands like an old woman?" Now the questions have disappeared. You don't need to warm your head, people just have the right to be curious, I think,”Antich sums up philosophically.
Maria has a younger sister, 8-year-old Galya, who does not have ichthyosis. Before giving birth, Natalia, of course, consulted with doctors about whether history could repeat itself. But during pregnancy, the Siberian woman did not make a special diagnosis, which in case of something would have revealed the disease. She says that it made no sense: Galya would have been born anyway.
