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».

Orphan diseases