In 2020, the state program of assistance to people with life-threatening rare (orphan) diseases included about 15 thousand Russians. In a similar program, 14 NVZs (high-cost nosologies) in the same period included more than 21 thousand people. Most of them live in Moscow and St. Petersburg, as well as in Tatarstan, Sverdlovsk region, Perm and Krasnodar territories. Such data are at the disposal of the Expert Council on Rare Diseases under the State Duma Committee on Health Protection.
However, a number of independent analysts have reason to believe that there are actually many more people suffering from such serious illnesses in Russia. It is possible that the official data are at least 100 (!) Times understated.
So, for example, analysts of the project “To be precise” (created by the charitable foundation “Need Help”) released a report in which they drew attention to the fact that it is impossible to calculate the exact number of such patients, since the register data is classified, and patients are only recorded according to 31 of the 266 positions of orphan diseases recognized by the Ministry of Health.
“Rosstat does not publish in the public domain depersonalized data from the federal register of orphan patients. The Ministry of Health also does not provide this information. Upon request, with rare exceptions, they do not provide data, ”the authors of the document stated, specifying that, for example, according to the Rarus magazine, published by the All-Russian Society of Orphan Diseases (VOOZ), there are from 2 to 7 million people with rare diseases in Russia.
In addition, they added, many patients with orphan diseases not only face problems in drug provision, but even with the refusal of regional departments to register.
Trying to understand the situation, “SP” asked the experts where the legs “grow” from these problems – from the incompetence and unwillingness of the authorities, or from somewhere else.
– To date, in per capita terms, our costs of providing drugs to patients with rare diseases are quite comparable with European countries, – stated in an interview with SP Rector of the Graduate School of Health Management Organization (HSOUZ), d.m.s. Guzel Ulumbekova… – According to the information I have, we are currently spending $ 21 on this at purchasing power parity (PPP). This is more than, say, in Poland and the Czech Republic, and at the level of the “old” countries of the Eurozone.
That is, I would not say that the identified patients with rare diseases are somehow infringed upon. But at the same time, one must also understand that the general state pocket from which these funds are spent is not bottomless. And if you do not add additional funds, the unbalanced increase in funding for the treatment of Russians with rare diseases will mean that adults and, first of all, children with other serious diseases will, in turn, receive something less.
“SP”: – What do you mean?
– Agree that it is extremely problematic to stretch the conditional 100 rubles for all those in need. And Russia now, in principle, spends almost 3 (!) Times less on free drug provision for all patients who need it than the countries of the Eurozone. Therefore, it is not surprising that in the regions sometimes patients are denied registration for rare diseases. After all, it is also necessary to treat other serious diseases, but for what? Today health care institutions are heavily credited to the limit, there is not enough money to help even those who are in dire need of it.
It is very good that a new charitable foundation “Krug of Kindness” has appeared with a fund of 60 billion rubles to help children with rare and serious diseases. However, this is only the first step, we must go further. But as? A new budget with “increased” funding for health care is now being approved. But there for 2022 compared with the current increase is 127 billion rubles. Add here at least 4% inflation, and we actually get just over 120 billion.
But this will not be enough to solve the most acute problems – a shortage of medical personnel, a shortage of drugs. And this despite the fact that we have simply become more sick. There is also delayed medical care, which has not been shown to people due to the coronavirus pandemic, new and already chronic forms of coronavirus, and much more.
– Indeed, according to our current legislation, the responsibilities of the regions include maintaining a register of patients with rare diseases strictly according to certain positions. This is, in particular, the so-called list of high-cost nosologies, and the so-called “list 17” for rare diseases (previously there was “list 21”). And our regions have no more legislative obligations, – explained “SP” Head of the Expert Council of the VOOZ, MD Ekaterina Zakharova… – But we must understand that the problem of detecting rare diseases has very deep roots, and on a global scale.
On the territory of Russia, the international classification of diseases of the tenth revision, the so-called ICD-10, serves as the basis for the designation and classification of rare diseases. The fact that it is very old is recognized all over the world, and now the ministries of health of many states, including ours, are working to create a new, eleventh version of the ICD.
This is because most of the current rare diseases are simply absent from the ICD-10. For example, there is a common code for breast cancer in it, but for its rare type – breast cancer caused by a mutation in the PIC3CA gene – there is no corresponding code. And there are thousands of such examples.
I understand the point of view of public organizations, but so far nothing can be done about it, alas, it is impossible. As soon as the official version of ICD-11 appears, all patients will have to be encoded in a new way. Then, for the health care system, many rare diseases will become visible and, accordingly, accessible. So this problem of registration of patients with orphan diseases is now being resolved.
“SP”: – But, judging by your last phrase, there are other problems?
– In my opinion, now is the time to work ahead of the curve. That is, while ICD-11 is being developed, it is worth discussing the formation of a special list of patients with rare diseases, for whom some treatment options have either already been developed or are about to be created. So that we are prepared for the fact that we will have hundreds or even thousands of people with some new form of a rare disease, whom we will have to provide with medicines. If we start somehow maintaining this register right now, there is hope that the new state fund “Krug of Kindness” will facilitate the treatment of such patients.
“SP”: – And again here you can clearly hear another “but” …
– But the point is that it is not possible to calculate all rare diseases at the moment. In addition, 90% of them today have no treatment at all. Such patients have, along with all others, to provide purely symptomatic care in ordinary hospitals and outpatient clinics by ordinary medical specialists.
So it makes no sense to do some kind of special “orphan” branch of medical care here, in my opinion. Yes, there can be millions of orphan patients, but in this situation I see it as a much more correct way, in which it is not necessary to form orphan departments, but to create a register of specialized clinics that most often encounter certain rare diseases in their work, accumulating relevant experience …
So that this or that orphan patient clearly understands who and where can provide him with some help. Give advice, conduct a free or even paid operation, take under supervision, transplant an organ. We have similar clinics and specialists dealing with this or that problem – autoimmune diseases, intestinal problems, abnormalities in the development of the skeleton, and so on. So they would have to be entered into some registers, otherwise it is not surprising to bury yourself headlong in compiling lists of patients with rare diseases, but this may not bring much benefit.