“There Should Be No Failures”: A Medication Provided to a Family with a Rare Genetic Disease

The Nizhny Novgorod Ministry of Health suspended the work of the regional head of the drug supply department, Natalia Ochekurova, and the head physician of the Sosnovskaya CRH, Svetlana Trifonova, during a check on the failure to provide vital medicines to the Fedin family, whose members suffer from a rare genetic disease - Fabry pathology. This was reported to RT by the Deputy Governor, Deputy Prime Minister of the Nizhny Novgorod Region Andrey Gneushev.

“The governor responded in a timely manner, and now we are conducting an internal audit. If during the audit it turns out that Ochekurova and Trifonova are to blame, we will punish. The main thing is that people are provided with medicines and they have already begun to put the necessary droppers. So far we have bought medicine for a year for five people, ”RT Gneushev said.

According to him, next year, when forming a budget, the need for this medicine will be taken into account.

“If people with such a diagnosis are still identified, we will also provide them with everything necessary. Procurement is carried out centrally through our state-owned enterprise. After the needs of medical institutions are identified, stocks are quickly provided, so there should be no failures. Purchases are made through a tender, for this year we have already conducted a tender promptly, ”explained Gneushev RT.

At the same time, the vice-governor noted that the situation with the non-provision of drugs arose due to the fact that the diagnosis of “Fabry disease” is not on the federal list, according to which this category of patients would be provided with drugs at the federal level. “We have taken this problem upon ourselves, we will provide these people with medicines at the subject level, because there is a problem, it needs to be solved,” the deputy governor assured.

Disability until adulthood

Natalya Fedina told RT that the first injection of the medicine was given to her and her relatives on Monday, January 27.

“We were given medicine and released home. Right now there are no improvements in well-being: it is necessary that a couple of days pass. The drug has a cumulative effect. We’ll flutter in a couple of months, ”Fedina rejoices. - True, the date of the next injection has not yet been assigned to us. They said that everything will be at the discretion of the ministry. But most importantly, I’m afraid that we will again be sent for treatment to the Sosnovskaya Central District Hospital, where we were indifferent. Especially if the head physician is reinstated. ”

The woman also said that on Tuesday, January 28, the medical commission approved her son Vanya granting the status of a disabled child until adulthood. The decision on assigning disability to Natalia will be made by the regional commission.

On condition of anonymity, doctors in Sosnovskaya CRH told RT that the chief physician Trifonova came to work earlier this week, gathered medical staff and allegedly stated that “no one will fire her.”

In turn, Gneushev told RT that Trifonova came to the hospital only for testimony during an internal audit.

Earlier, RT said that three generations of the Fedin family from the working village of Sosnovskoye, Nizhny Novgorod Region, suffer from a rare disease. Fabry disease affects the internal organs and disables them one after another. Eight family members from adolescence experience unbearable pain in their arms and legs during heat and any physical exertion. They managed to make an official diagnosis only in 2017.

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 make life easier for sick people. However, Fedina never received this medicine.

The regional Ministry of Health did not believe the conclusions of Moscow and St. Petersburg colleagues, and also considered seven simulators. In response to complaints to the UK, the prosecutor’s office and the ombudsmen received only formal replies, despite the fact that the diagnosis was officially confirmed by the chief geneticist of the Russian Ministry of Health, Sergey Kutsev.

January 17, right in the hospital ward during hemodialysis, 51-year-old uncle Natalia Mikhail Vorontsov died. After that, they called her from the regional Ministry of Health and promised to provide medicine for the whole family. So far, only five family members have confirmed the diagnosis. Two more were sent for additional examination.