“They said it was unprofitable to treat us”: they promised a family with a rare genetic disease to provide medicine

On January 17, in the Nizhny Novgorod Region in the Sosnovskaya Central District Hospital, 51-year-old Mikhail Vorontsov died during a hemodialysis session. In 2017, the capital's doctors diagnosed a man and his seven relatives with a diagnosis of Fabry disease.

This genetic disease affects the internal organs. Patients with impaired functioning of the kidneys, liver, heart, joint pain appear, patients poorly tolerate heat and even light physical exertion.

It is impossible to cure Fabry's disease, but with the help of Agalsidase beta, which is included in the list of vital medicines, it is possible to significantly simplify the lives of patients. However, according to relatives of Vorontsov, in the Nizhny Novgorod Ministry of Health they diagnosed and refused to provide their family with medicine.

“For three years we have been upholstering the thresholds of officials, turning to the authorities and writing letters to various authorities asking for help. We are dying of pain, and we are denied medication. We are not able to buy them at our own expense, ”says RT 31-year-old niece Vorontsova Natalya Fedina.

One bottle of medicine costs 250 thousand rubles. Dosage is calculated according to weight: 1 bottle per 30 kg. The drug should be repeated every two weeks.

“Well, where do we get that kind of money?” Fedina is indignant. The woman worked at the fiberglass manufacturing plant, but she quit due to illness - there is no strength to stand the whole shift at the machine. The family lives on the salary of the husband-engineer.

“You've come up with everything”

According to Fedina, their third generation is experiencing health problems in their family: Natalya herself, her 55-year-old mother Tatyana, 35-year-old brother Sergey, 40-year-old cousin Alexei, 12-year-old son Vanya and his two cousins.

“In adolescence, almost everyone in the family from the heat and the slightest physical exertion begin to unbearably hurt their arms and legs, there are problems with the kidneys and heart. We thought it was something hereditary with us, we went to the doctors, but they could not combine all the symptoms for a certain disease, ”Natalya says.

It was possible to find out what the Fedins suffer in 2016. Uncle Svetlana Mikhail Vorontsov, who suffered from kidney disease, was admitted to a young doctor who advised him to take tests for Fabry's disease with him and other family members. When it turned out that the family did not have money for expensive procedures, the doctor organized a trip to Nizhny Novgorod for a conference on rare genetic diseases.

There, according to Natalia, they met with the director of the center of the ANO "Genome" Elena Khvostikova.

“Elena organized adult examinations in Moscow, and children in St. Petersburg. At the beginning of 2017, we were all confirmed with a diagnosis. But it was possible to prescribe treatment with a special drug only at the place of residence, and we took the documents to Sosnovskoye, ”recalls Fedina.

The doctors of the Sosnovskaya Central District Hospital, on the basis of the documents provided by Fedin, held their consultation and confirmed the conclusions of their St. Petersburg and Moscow colleagues. Family members entered in the register of rare diseases. However, a month later, local doctors withdrew their opinion on diagnosing Fabry’s disease with Fedina. Natalya applied for clarification to the regional Ministry of Health.

“They answered me that the medical college in Sosnovsky was conducted with violations - there was no genetics in the commission. And they do not trust the conclusions of Moscow and St. Petersburg experts. We were told: “You are simulators. There is no such disease. You came up with everything to get budget money, ”Natalya recalls.

“He would just die”

In 2017, Fedina turned to the chief geneticist of the Russian Ministry of Health Sergey Kutsev with a request to understand the situation. He convened a consultation of doctors who confirmed the presence of Fabry disease in family members (a conclusion is available to RT).

But, according to Natalya, the regional Ministry of Health ignored this conclusion. The family repeatedly sent officials the entire package of documents with the results of the surveys, but they replied that the documents were written in illegible handwriting and asked for others to be sent (the answers are available to RT). Appeals to the Investigative Committee, the prosecutor’s office, the Ministry of Health, to the Commissioners for the Rights of the Child and Man also did not bring results.

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“My brother Sergei, the sickest of us, then urgently needed treatment, and he filed a lawsuit in court declaring the refusal to provide medicine illegal. Elena Khvostikova said that it would drag on for a long time, found sponsors who paid for the purchase of the medicine only while the litigation was ongoing. Otherwise, he would have simply died, ”says Fedina.

Sergey won the court in November 2019, but did not receive any medicine.

Meanwhile, in May 2019, the health of both Natalya and her 12-year-old son, Vanya, was greatly shaken.

“I had a pre-infarction condition - pressure 180 to 120, and my son had a risk of stroke. Sponsors paid for the trip to the Almazov Center in St. Petersburg. We were prescribed emergency administration of the drug right in the center, ”says Fedina.

According to Natalia, for three whole weeks after the administration of the medicine they lived as in paradise: the pains stopped.

“But the course had to be continued, and the sponsors were ready to buy medicine for us for six months,” she explains. - That's just to enter the drug should people who have received special training. Sosnovsk doctors said that they did not know how to administer the drug, and we did not have the means to travel to St. Petersburg every two weeks. As a result, they did not begin to buy medicine. And soon the disease returned. For several days we could not get out of bed. Vanya’s “burned” limbs, and he lay on the cold floor to somehow cool them. "

“My family is dying”

Before the New Year, the son of Natalia Vanya recorded and posted on the Internet an appeal to President Vladimir Putin asking him to help his family, dying without medicine.

“I was involved in football and wrestling, but when the symptoms began to appear, I had to abandon the sport. Now it’s hard for me to go to school - the road takes only a kilometer, but after that my fingers begin to hurt a lot. I don’t even go in winter shoes - limbs start to “fry” from me, so I often have to freeze in autumn boots, ”says Vanya RT. - And now, when the disease has become even stronger, I can’t even go out for a walk. Absolutely. I come from school, do my homework and play computer - I have no other connection with the outside world. I dream of going to the sea, but it’s hot there and it will be bad for me. And with medicine it’s possible. ”

At the age of twelve, Vanya had kidneys the size of an adult male, heart failure, problems with the spleen, pancreas and circulatory system.

“We went to the hospital to get an exemption from physical education, and the doctors tell us:“ You are healthy, what kind of information. ” Because of complications, they generally thought about home schooling, but they refused this option - the son only sees friends at school, says Natalya. - As a result, the director went into a position and allowed Van to do well-being. Estimates because of this did not spoil him. ”

“Sacrificed himself for us”

The situation changed only after the funeral of Uncle Natalia Mikhail Vorontsov. The man died on January 17 in a hospital ward during a hemodialysis procedure. Two days after the funeral, late at night, Fedina phoned the Deputy Minister of Nizhny Novgorod Healthcare Galina Mikhailova.

“She said that the agency will give us the drug,” Natalya says. - And in the morning we got a call from the hospital and told to carry documents - they will hold a commission on awarding us disability. Prior to this, they agreed to give disability only if we sign papers that we are not claiming medicine. It turns out that only after the uncle’s death did everyone stir. He sacrificed himself for all of us. ”

According to RT, Deputy Governor of the Nizhny Novgorod Region Andrei Gneushev, the regional Ministry of Health will ensure the supply of necessary medicines by the end of this week.

In turn, the chief therapist of the Ministry of Health of the Nizhny Novgorod Region, Nadezhda Pershina, told RT that the medicine would go to the nearby Pavlovsk Central District Hospital. There they are already waiting for the Fedins.

“Medicines for the treatment of this disease are available in full and delivered to the Pavlovsk Central District Hospital, where they will be administered to patients suffering from Fabry disease. For this, a specialist will arrive from the city hospital of the 13th Avtozavodsky District of Nizhny Novgorod, ”RT Pershina said.

Natalya Fedina hopes that now the life of the family will improve.

“When they called me and said that there would be a cure, my tears began to pour. And now I really hope that they will give it to us and we will live like everyone else, ”Natalya says.

In addition, Fedina intends to secure the dismissal of the head physician of the Sosnovskaya Central District Hospital Svetlana Trifonova, who, according to her, refused to accept the conclusions of Moscow and St. Petersburg specialists and claimed that treating the family was unprofitable.

“I would not want her to be as indifferent to anyone as to us,” Natalya summed up. It is noteworthy that in the hospital many patients complained to RT about the inhuman treatment by the head physician.

Trifonov herself, on the day when the family was promised to give medicine to the family, was summoned to the regional Ministry of Health. The next day, even despite the planned appointment of patients, she did not appear at the workplace and did not answer the phone. Her deputy Irina Kuznetsova refused to comment on the situation with the Fedin family.