«Flop down and die»: A family with a unique diagnosis is fighting for a rare medicine

Alexander Dybin

Yelena Bragina found out about her diagnosis during pregnancy eight years ago. But I didn't interrupt it. The woman has an orphan disease, insufficiency of antithrombin-3. This substance is simply not produced in the body, without it, a blood clot can form in the blood at any time. This can happen suddenly and at any moment. «You just suddenly flop down and die», — says Yelena Bragina. She has already written a will for this case, ordered who her seven-year-old daughter should stay with. But the girl has the same diagnosis. The same as Mom's, but in an even more severe form.

«As far as I know, there are only seven adults and two children living with this disease in Russia», — says Yelena, «the fact that I gave birth is a miracle. Usually people with our disease just don't live up to this age».

As often happens in the case of orphan diseases, patients face problems with obtaining medication. According to Yelena, for more than a year she fought for her daughter to receive the necessary medication. The diagnosis and appointment from the federal medical center meant nothing to local doctors, I had to sue.

«The fact is that my daughter's condition may worsen at any time, in this case, the antithrombin-3 drug should be at my house, and I should introduce it right away, » says Chelyabinsk, «this is some exception in the rules that the medicine is given on hand. But it was not easy to achieve this. The drug is not as expensive as it happens in the case of orphan diseases — 30 thousand rubles per ampoule. The number of ampoules is calculated by weight. But only a hematologist, who is the only one in our city, can do this. You cannot buy this medicine at a pharmacy. It can only be in the clinic. But it did not work out right away to fulfill all the recommendations of Moscow doctors. At first, they just kicked us out of the office, said we didn't understand, weren't competent, goodbye. I started writing letters, received refusals: that's your problem. I collected all these refusals and sent them to the president's reception room in Moscow. Only this somehow moved the matter from the dead point. Already when the trial was underway, inquiries began to come from Moscow about us. Only after that, the doctors' tone changed. Before that, there was some kind of mutual responsibility. Questions in court are asked by one, others answer, some kind of looking glass. For example, they said that the medicine should not be given out because there is sediment in it and it is difficult to inject it. But if you read the instructions, it says that the sediment is a sign that the drug is spoiled».

And after a positive court decision, the family could not get the necessary drug for another year.

«They just froze us, they didn't give us medicines, there were smart pediatricians who are not closely related to our disease, who convinced us, but let's replace the drug with something else, they say we don't believe these Muscovites. And in general, let's save your daughter in a different way, because well, it seems to us that she has a different disease», — says Yelena.

Now, with the fights, the woman has achieved obtaining part of the necessary medicine, but the problem has not gone away. Medicines for an emergency situation are not enough, plus the child is growing and you need to recalculate the dosage. Only a hematologist can do this, but it turned out to be impossible to achieve this.

«There is an instruction on how to act, everything is prescribed, but Chelyabinsk ignores it, » says Yelena, «we still do not have a hematologist who could be visited without problems, who could recalculate the dosage. I contacted the Circle of Good Foundation and they said they could help with the medicine if there was a fresh appointment. But they don't make it for us. I ask Chelyabinsk doctors to officially reject us, with this paper, we would have been accepted in another region. But they don't do that either».

What officials say

The Ministry of Health of the Chelyabinsk Region, at the request of Novye Izvestia, reported that the girl received the necessary drug in May 2023, despite the fact that the court decision was made a year ago.

«The Ministry of Health of the region purchased and issued in May 2023 to the mother of the child the drug „Human Antithrombin III“ in accordance with the calculations for the use of the drug according to the instructions for use and recommendations of the Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology and Immunology, » the department's response says, «it is worth noting that this the drug is administered to the patient only if a short-term course of prevention is necessary in high-risk situations (severe infections requiring hospitalization, abdominal operations, fractures of large bones, etc.), that is, the drug is administered in a hospital of a medical institution, under the supervision and adjustment of treatment taking into account the results of biochemical studies and the clinical situation. In case of high-risk situations on the territory of the Chelyabinsk region, the girl will be taken to the Chelyabinsk Regional Children's Clinical Hospital, which has the necessary amount of the drug „Human Antithrombin III“, the child will be provided with all necessary medical care».

In addition, it follows from the response of the Ministry of Health of the region that Yelena Bragina has not received medicines since April.

«As for the mother, in accordance with the recommendations of the National Research Center of Hematology and the appointments of the medical commission of the City Clinical Hospital No. 1, the following drugs are recommended: Cardiomagnil, Antithrombin III human, Xarelto. The woman was provided with these drugs until April 2023. At the moment, the Regional Ministry of Health is purchasing drugs „Human Antithrombin III“ and „Xarelto“, — the department said.

Now State Duma Deputy Vladimir Burmatov is dealing with the situation, to whom Yelena Bragina addressed.

«There will be requests to the Federal Ministry of Health and the prosecutor's office, as well as to the bailiff service, since there is a court decision, but it is not being implemented, » the deputy's office told Novye Izvestia.