Extremely ignorant – Newspaper Kommersant No. 56 (7501) dated 04/03/2023

Most Russians – 65% – have never heard of orphan (rare) diseases. Such results were shown by a study by the NAFI Analytical Center and the Lighthouse People Charitable Foundation. The most familiar to the residents of the country are spinal muscular atrophy (58% have heard of it), lymphoma (54%) and hemophilia (49%). At the same time, more than half of Russians are ready to transfer donations for medicines for people with orphan diseases.

Official statistics on the number of patients with orphan diseases are growing along with the expansion of diagnostic programs, but Russians in general are not very familiar with this problem. These are the results of a joint study of the NAFI Analytical Center and the Charitable Foundation for Helping Children and Adults with Rare (Orphan) and Life-threatening Diseases “Lighthouse People”. The survey was conducted in March 2023 among 1.1 thousand respondents over 18 years old. The majority of Russians (65%) have never heard of such a concept as “orphan disease”. Another 26% have heard this phrase, but do not know exactly what it means. And only 7% of Russians are well aware of the problem of rare diseases. The authors of the survey describe a portrait of such a person: an entrepreneur or a middle or senior manager, more often with a higher education and a good financial situation, living in Moscow or in the Central Federal District.

Russians who try to give at least some definition of the term “orphan diseases” are divided approximately evenly: 48% correctly determine that these are rare diseases that occur in one person in 10 thousand or less, and 52% have misconceptions. So, 16% believe that these are diseases that affect the spelling abilities of a person; 8% are sure that diseases of the throat, larynx and trachea are called orphan; 7% believe that we are talking about diseases, the incidence of which varies depending on the time of year.

Now the list of orphan diseases of the Russian Ministry of Health includes more than 260 diseases. From this list, the most familiar to Russians are spinal muscular atrophy (SMA; 58% of respondents have heard of it), lymphoma (54%), hemophilia (49%), neuroblastoma (35%), cystic fibrosis (27%), genetic encephalopathy (22% ) and neurofibromatosis (15%). Women show higher awareness of specific diseases: 68% of women versus 45% of men have heard of SMA, and 60% of women versus 46% of men have heard of lymphoma. Awareness of neuroblastoma, cystic fibrosis and genetic encephalopathy among women is twice as high (47% and 22%; 36% and 15%; 29% and 13%, respectively).

Two-thirds of Russians (63%) believe that people with orphan diseases receive the necessary treatment, but not in full. The most optimistic view on this issue is expressed by respondents aged 18–24 and men: 31% and 20% of them, respectively, believe that patients with rare diseases receive full drug coverage. In general, among Russians, 16% assume that the drug needs of people with orphan diseases are covered by 100%, and one in five (21%) assume that such patients do not receive medication at all. At the same time, the lower the self-assessment of the financial condition of the respondent, the more often Russians say that patients with orphan diseases do not receive treatment in full or do not receive treatment at all (37% among those who assess their financial situation as poor).

The majority of Russians (63%) believe that it is charitable foundations in Russia that finance treatment and purchase expensive drugs from pharmaceutical companies for people with rare diseases. At the same time, 60% of respondents do not know NGOs that specialize in this problem. Another 40% know about such funds, but only 6% of respondents can name specific organizations. Most often, people remember the Gift of Life, Circle of Kindness, Butterfly Children, Live Now, Life Like a Miracle, and SMA Families foundations.

Every second respondent thinks that the patients themselves or their relatives (50%) or the state (49%) buy the medicines. One in three believes that treatment is provided by patrons (32%). At the same time, half of the country’s residents (52%) express their personal readiness to transfer money as donations for drug provision for people with orphan diseases. The authors of the survey emphasize that Russians express their willingness to help regardless of gender, age, or any other socio-demographic differences.

Lilia Tsygankova, director of the Lighthouse People Foundation, notes that public opinion on this issue was last studied more than five years ago, when there was no treatment for either SMA, or Duchenne dystrophy, or Leber’s amaurosis. “Now there are medicines that help children live and have a completely different life. And we understand why SMA took the lead in terms of recognition in the survey — the issue was very loudly raised in 2019-2020. Then, thanks to foundations and patrons, more than 60 children were treated and, of course, general awareness of this rare disease grew,” says Ms. Tsygankova. Despite the fact that the problem of rare diseases is now being addressed “systematically and effectively at the state level,” according to her, public organizations need to make efforts so that every rare patient “does not feel invisible.”

The executive director of the NAFI Analytical Center, Lyudmila Spiridonova, believes that the volume of financial donations can be significantly increased with an increase in the level of awareness of Russians about these diseases, about the number of people suffering from them in the country and about the possibilities to help them. “This is also confirmed by our other studies,” says Ms. Spiridonova. “In an era of economic turbulence, the volunteer activity of Russians has increased, as well as interest in various charitable projects.”

Yuri Zhulev, co-chairman of the All-Russian Union of Patients, says that the problem of awareness of orphan diseases directly affects the possibilities of treatment. “Let me give you a simple example. We constantly talk about the need for vigilance of doctors – obstetricians, pediatricians and other specialists, as well as parents. There are signs by which doctors and parents may suspect the presence of a life-threatening disease. And the sooner the diagnosis is made, the healthier the child will be in the future. If the child has bruises and at the same time he did not get injured, parents should take him to the doctor in order, for example, to remove suspicions of a blood clotting disorder,” explains Mr. Zhulev. He hopes that the conscious attitude of citizens towards orphan diseases will grow “due to increased awareness of doctors and patients.”

Natalya Kostarnova