A blind girl with a rare disease was saved by a stem cell transplant

We have written about the fate of this girl several times. And three days ago she turned 14. Regina will get a passport. We decided to celebrate this event in the editorial office.

Let's open all the cards at once: Regina's fate is unusual and tragic. At the age of eight, she lost her sight. This ruined the life of a family that had moved from Uzbekistan to Russia a few years earlier in search of work and housing. After learning about her daughter's diagnosis, her father left the family, and Gulnara's mother had to leave her job because Regina became absolutely helpless. And not only because of her blindness, she was getting worse every day. Life was passing away. The mother rushed in search of salvation. There are countless clinics where Gulnara went with a dying child. Only a year later, a terrible, and to be honest, fatal diagnosis was made in the Russian Children's Clinical Hospital in Moscow.

– Regina has a very rare, poorly studied disease in the world, Devika's opticomyelitis, – says Kirill Kirgizov, Candidate of Medical Sciences, Regina's doctor, an employee of the RDKB. – His reasons are not known. Therefore, there are no approved treatment protocols – only experimental ones. In this disease, your own immunity, instead of protecting the body, begins to affect it, affects the spinal cord and brain. Vision disappears, movement functions are disrupted. Worldwide, only about 300 cases have been recorded in adults, about 30 in children. In Russia, children have less than 10. The disease is difficult to diagnose. When we succeeded, we tried many methods of drug treatment. It didn't help. The girl's condition worsened.

Russian doctors drew attention to the experience of Italian colleagues who successfully performed bone marrow transplantation in two adult patients with Devik's disease. And then we decided to take a chance. There was no 100 percent certainty that it would work. I was lucky with the donor – it was Regina's brother Timur. Hematopoietic stem cells responsible for the immune system were taken from him. Regina is the first child in the world with Devika's disease to have a bone marrow transplant from a donor. Our doctors hope that in other countries, based on the Russian experience, the method will be used.

Nowhere in the world do they know how to treat this disease. Neither did Regina's attending physician Kirill Kirgizov know about this. How much literature was plowed, how many consultations were held with Russian and foreign colleagues...

Let it be a thing of the past. It became known that when such a disaster overtakes adults, stem cell and bone marrow transplantation is used. In adults. And Regina was not yet 10 years old. But she had been ill for two years, she was already confined to a wheelchair, she hardly reacted to others. And Kirill Igorevich, together with his colleagues, decided, and the chief physician of the hospital, Professor Nikolai Vaganov, gave the go-ahead.

Regina was 10 years old when she had a bone marrow transplant. The result? A few months later, rejection began. And the situation has not gotten worse. And only two years later, for the first time in the world, the same doctors at the RDC transplanted stem cells taken from Timur's brother to Regina.

I met Regina in January of this year at the Yuri Kuklachev Cat Theater. This theater invites children undergoing treatment in Moscow to its performances once a month for free.

I noticed an unusual girl in large dark glasses, the expression on her face, the way she stroked a cat named Lilac. That's when I found out that this girl was blind.

It's hard to believe. When the glasses are removed, then huge beautiful dark brown eyes look at you, completely alive. At our request, these eyes were checked by the famous Russian ophthalmologist Professor Mikhail Konovalov. He said that the eyes are healthy, that it's all about the optic nerve, which suffers from the underlying disease.

Now Regina is in remission. The girl successfully graduated from the seventh grade. She plays the piano, participates in music competitions, composes music, masters the guitar, learned to play chess, roller skates, swims. And yet – she confessed that she was writing a novel. "About what?" – I asked the girl. "About happiness," Regina replied. And when I congratulated her on her 14th birthday and wished her happiness, I heard in response:

– Happiness, Irina Grigoryevna, is the most important thing. It includes both love and health.

This little blind woman is a real philosopher. A few days ago, I arrived in the village of Redkino, where, through the efforts of State Duma deputies and deputies of the Nizhny Novgorod region, the Parpiev family finally found their own housing. I came to the Parpievs together with employees of the branch of "RG" in Nizhny Novgorod. The result of this visit turned into a whole holiday for the family. As Gulnara said, "my daughter has never had such a birthday in her life." Regina will no longer sleep on the floor: she was given a comfortable bed with drawers for linen, with an orthopedic mattress and an orthopedic pillow. Regina said that she was given "a candy store, a fruit store and a plasticine store."

Plasticine has a special meaning here: Regina sculpts stunning figures from it. So there is an elephant on my desk in my office, made by Regina. Deputy Chairman of the Government of the Nizhny Novgorod region Dmitry Svatkovsky and Chairman of the regional Legislative Assembly Evgeny Lebedev are now also involved in the fate of Regina. The main thing is that they remove the problems of the girl's drug supply. And this is vital. Regina needs constant intake of expensive medications. There can be no question of any substitutions or generics. Unfortunately, Gulnara is constantly forced to "knock out" the medicines due to the girl. We really hope that now there will be no such problem.

And yesterday Regina and her mother came to our editorial office – no matter how you say it, but this is the first child in the world who is saved from an incurable disease with the help of stem cell and bone marrow transplantation. Kirill Kirgizov said that two more children have successfully undergone similar transplants, and they also feel well.

And what happened yesterday with us? We have also prepared surprises. A cake with 14 candles was brought on a special table. Regina extinguished the candles and made a wish. Once Regina admitted that she loves classical music very much, and "above all," she said, puts Tchaikovsky. We asked Denis Matsuev to give the girl his CD with the recording of the First Concert for Piano and orchestra. He gave it to me. But before the performance began, he congratulated Regina himself. And we turned on the speakerphone in the editorial office so that everyone could hear Denis Matsuev's congratulations and the wonderful performance of the great maestro.

In the Nizhny Novgorod school for the blind, where Regina studies, there is no special globe. Yesterday such a globe was presented to Regina. "I will give it to our school," the girl promised.

Once before I asked Regina: "What do you want most of all?" The girl sighed and said softly: "The dog. I would pet her, I would feed her, I would walk her, and she would walk me." What kind of dog would you like? "Kind." I told Natasha Steshina from the People's Unity Foundation, which takes care of the Parpiev family, about this dream of Regina. I don't know the details of how they did it. But yesterday, accompanied by an instructor, a handsome labrador Arvin fawn was brought to the editorial office. We brought him to Regina. I took Regina by the hand, put this hand on the dog's muzzle. It is impossible to convey Regina's facial expression and condition.

That was yesterday's unusual day. Many colleagues who have nothing to do with health care, medicine, came to at least take a look at this amazing girl, who, who knows, can be the beginning of a new direction in the treatment of the most serious diseases in children, still incurable. After all, Regina is the first in the world.

Photo: Arkady Kolybalov

– Every year more than 20 thousand children from different regions of Russia are treated in unique departments of our hospital. We receive patients with the most complex diseases, for the treatment, diagnosis and rehabilitation of which the latest methods are required. I head the Association of Children's Hospitals of Russia. Therefore, we are also the coordinator of specialized care in regional children's hospitals.

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14.08.2015