Transformer Egor: how to help a child with a genetic disorder

Egor lucky twice. Before he was diagnosed with a rare genetic disease and he just helped Fund “Sunflower”. Now there is a chance that he’ll recover

“Transformation! Transformation!” — Yegor announces in a solemn voice, lays the cubes to the side and presses the button on the wrist. Now he will turn into a robot. Chubby three year old toddler only plays: robots and transformers is his new passion. Maybe not playing? Maybe he knows that after a bone marrow transplant really was a transformation?

“My husband may not say”

Varvara and Sergey met in the village of Zverinogolovskoe the Kurgan region in the city. Barbara worked as a salesman, and Sergei went watches to the North. Met, got married, then the baby was born healthy and large, more than four pounds. And suddenly, when Yegor was a month, away we go.

Purulent otitis media, inflammation of the lymph nodes, hospital, high white blood cells. Then antibiotics, improve, discharge, impairment, Staphylococcus aureus, infection Department for a month. Darkening in the lungs, pneumonia, no pneumonia, fungus. Then again, the lymph nodes, surgery, antibiotics. This continued for three months. The doctors didn’t understand, an idea was worse than the other, the barbarian crossed with Egor from one hospital to another, suffering from ignorance and assuming the worst.

Egor and his mom Barbara in the Department of clinical immunology of the RCCH
Photo: Alexander Zemlianichenko Jr. for the TD

Moscow immediately said it. Primary immunodeficiency. A rare genetic disease when a person has no immunity, and vulnerable to any infection. When did the genetic analysis confirmed the diagnosis: chronic granulomatous disease.“It sounded scary, but at the same time was a relief — at least it became clear what it is and how to treat it,” says Barbara.

Prescribed antibiotics, antifungal and anti-TB drugs. “The doctor explained to me that it is a genetic mutation in my line of work, says Barbara. — I support this broken gene, and it is transmitted through the female line — the girls are carriers and the boys get sick.

The doctor said I might not speak to her husband.

Husbands in such cases often leave, get married again and give birth to healthy children.”

Then Barbara felt scared again. She thought and thought, preparing, no doubt, but still said Sergei. “Are you crazy? I’m from you He is not going anywhere”. Heart relieved, but then a new problem is assigned to drugs by the local hospital refused to give. They say, do not have them in stock, write letters.

Egor in the hospital
Photo: Alexander Zemlianichenko Jr. for the TD

Fortunately, in the Russian children’s clinical hospital in Moscow were advised to call the Fund “Sunflower”. There immediately responded and helped to make a complaint with the provincial Ministry of health, the Prosecutor’s office and the Governor, and while they were pending, bought all the necessary medicines. For example, one of them, Itraconazole, worth 23 thousand for 14 tablets, and the monthly rate comes out to almost 50 thousand rubles. That kind of money the parents had, and accept it had to be right. Three months later, complaints reached the addressees, and the state has allocated medication.

“About the same time we were told what to do bone marrow transplantation, as bone marrow Egor will never be able to produce antibodies to viruses, and all of these drugs — a half-measure, to suppress symptoms. And Egor will have a chance at a full life. I was really scared, worse than in the beginning. I didn’t realize what it was. And even relatives were all against, say, why make such a terrible operation, he goes, runs, looks healthy.” But Barbara knew better than anyone how sick her baby, and she and Sergei agreed.

Playing to “win”

Donor looking for a long time. After a year found a matching 90%, but the doctors at the hospital said that I will not take, look for 100%. A year later, found. In Germany. “All we know is a girl born in 1994, 74 kg — smiling Barbara. To date only three years later.

I would really like. To see a complete stranger, which fits my son 100%, despite the fact that I, his own mother, at 80.

Well, to thank, of course.” The barbarian looks like a tear.

Before the transplant had six days of chemotherapy, to counteract bone marrow Egor. Barbara and joy and was afraid. To the last, while looking for a donor, I thought that at any moment can grab the son and run away. And when they started the chemo, I realized that there is no turning back. The transplant was appointed to 1:30 in the morning. The doctors gave Greg an IV all hooked up, showed where the panic button, and left. Barbara left him alone in the box and frantically followed all indicators are just that ready to press the button. The longest night in her life ended at nine in the morning with the end of the transplant.

Yegor in the game room
Photo: Alexander Zemlianichenko Jr. for the TD

Egor tolerated it well. The first week he ate nothing nor drank, fell out after chemo hair, I got skin rash, but then went to the amendment. Four months he spent in the hospital under observation.

— Stop playing to talk. Going to play catch up! — orders Egor cars, us and yourself.

— Can play in sleep? — asks the mother.

— No, to play catch up!

This is his new favorite word — every day takes another verb and inserts it into the names of their games.

After Egorkino transformation a year has passed. He still drinks immunosuppression, doctors are reinsured, but Barbara hopes that it will soon be canceled. And allow you to remove the mask. And will be in kindergarten. “I want to send him to the garden, says Barbara. — Lacks communication. When Serezha was on watch, we’re home almost all the time together. He was even in Moscow in the hospital is always striving, as a holiday. Should I get a suitcase, as he happily jumps: “Hurray, we go to friends!” “Greg, we’re going to Moscow, to the hospital” “You’re in the hospital, and I’m friends! To Vanka, Gosha, Paula”. “Well, friends to friends,” I say to him.”

They fly to Moscow several times a year the entire Egorkino life, and in July it will be four. Tickets also paid by the Fund “Sunflower” because the state allocates money only to train. Greg with his diagnosis to go three days on a train is impossible.

“I want soup! Soup! — chatters. — Transformation”. Apparently, to turn from the transformer to the little boy to eat soup. “Stubborn was, no words. Amazingly, by the way, after the transplant, he changed the flavors! — surprised the barbarian. — Before he loved dumplings, meat, pasta, not to tear it. Now in any — but I love soups. And sweet. Maybe our German fairy — vegetarian-sweet tooth? But sweet should be finish. During this visit we doctors have hinted that it was time to go on a diet. 31 pounds, eh, Egor?”

“Play to win! Play to win!” — he had forgotten about the soup and again became a transformer machine. “He won!”

Photo: Alexander Zemlianichenko Jr. for the TD

Yes, he won. Although this is not the end, but it seems the finish line. Annually in Russia is born about 200 children with primary immunodeficiency. Due to late diagnosis 80% of children die. Genetic analyses — the only chance to confirm a diagnosis, prescribe medication and treatment. Often babies need the screening of viral infections or genetic test that allows early to detect a mutation of a specific gene. It is very important to do this as early as possible.

High-tech tests are expensive and are still not included in the MHI system, although they are directly dependent on the health and lives of hundreds of kids. These tests and expensive drugs, and even plane tickets paid by the charity Fund “Sunflower”. But the Foundation exists for our money. Please make a regular donation, and without exception, all the little wrestlers and the sweet tooth will be able to win. And live.

— Play to sleep! — Yegor commanded.

— Well, finally — smiling mother.

The original article on the website Such Things