Compared to other diseases, rare diseases show very different characteristics on diagnosis and treatment stages, and disease processes. However, due to the low prevalence in the general population, rare diseases are often an area that is not emphasized, and the policies are inadequate. For this reason, it is of great importance to determine the economic burden that individuals with rare diseases and their families are subjected to, and to organize development policies. In this study carried out with this specific purpose, out-of-pocket expenditure of individuals with rare diseases and their families were analyzed.
According to the analyses, the average age of the participants was found to be quite low. Considering that the rare diseases mostly affect children; it is an expected result that the average age of the participants is 12. The fact that 95% of the participants are single, 40% are illiterate, the rate of primary school graduates is very low, and the working population is only 7% can be explained by the low average age. In addition, the vast majority of individuals with rare diseases have difficulty participating in education and work life due to their diseases. This situation is caused by the physical limitations they experience, those limitations making it difficult to continue their education and business life, the difficulties in participating in social life due to the lack of awareness and consciousness in the society, the difficulties they experience in finding a job and the treatment processes making it difficult to participate in education and business life.
92% of participants are covered by general health insurance, almost 3% are covered by private health insurance, and 5% have both types of insurance. Although all participants are covered by insurance, enormous out-of-pocket expenses indicate that there are unmet needs in rare diseases.
When the total out-of-pocket expenditures related to rare diseases are examined, from highest to lowest; special nutrition expenditures (25.86%), transportation/accommodation/food (16.91%), medical and non-medical devices and supplies (14.87%), medicine (12.11%), patient care (7.65%), laboratory and imaging tests (6.94%), hospitalization (5.62%), specialist visits (5.09%), traditional and complementary medicine (4.49%) and emergency department services (0.45%). The fact that special nutrition expenditures account for a quarter of all expenditures shows how big food expenditures are in these diseases and that there is no improvement in this field since there is no awareness in our country about this issue. According to a 2019 study with rare disease sufferers, it was determined that 28% of the difficulties encountered in the treatment process in rare diseases were caused by management/system and policy, 23% from access and 19% from finance. These challenges are; the lack of coverage of treatment services and medicines, the low coverage of medical devices, the expensiveness of low protein products, the lack of reimbursement due to the high costs of genetic therapies to correct the mutation seen in rare diseases, and the failure to cover certain disease-specific foods [18]. The study found that many of the difficulties experienced in rare diseases are due to economic problems related to treatment and medicines, food and medical supplies needed.
According to the results of the analysis, it was observed that the participants had an average income of 30.70% lower than the average household income announced by TURKSTAT. This rate shows similar results for all disease groups. It is thought that this is due to the fact that when there is a rare disease sufferer in the household, one of the households usually quits for care or can only work in part-time jobs for short periods. Although the average household income is low, according to the data released by TURKSTAT, per capita expenditure on health in 2019 is ₺2,434 (€307), while according to this study, almost 6 times more health expenditures are made out-of-pocket in individuals with rare diseases.
When evaluated according to the disease groups, it was observed that the average annual out-of-pocket expenditure in diseases in the neuromuscular system and the other diseases groups were very close to each other and higher than the general average. The average annual out-of-pocket expenditure rate of the metabolic diseases group is lower than the other diseases groups and the general average. Similarly, when evaluated according to the average annual income; while out-of-pocket expenditures made for diseases in the neuromuscular system and other diseases groups cover 35% of the average income, this rate is around 26% in the metabolic diseases group. When examined on the basis of expenditure for each group; it was observed that the area that was paid the most is special nutrition expenditures (39%) in the metabolic diseases group, medical and non-medical devices and materials expenditures (22%) in the neuromuscular system diseases group, and laboratory and medical imaging tests expenditures (18%) in the others group.
Of the studies on the subject, the study by Lopez-Bastida and his colleagues (2016) analyzed the quality of life and annual expenditures of individuals with rare diseases and their caregivers for specific countries [19]. In the study, the difference of the areas spent according to the type of disease and the costs varying in different countries are noted. This is due to the difference in the use of medicines and healthcare that are approved and covered by reimbursement in each country. Similarly, the study conducted by Gong and his colleagues (2016) examined the availability and affordability of orphan drugs in China. The average cost of 23 orphan drugs analyzed in the study was found to be $4,843.5, which equates to the 505.6-day net income of a middle-income individual. The study results show that the availability of orphan drugs in China is not only very low (20.8%), but also the drug costs are unaffordable for most patients [20].
The economic cost of the disease includes similar results in neuromuscular system diseases and other diseases groups, while it is lower in the metabolic diseases group. It is thought that this is due to the fact that participants with neuromuscular system diseases and other diseases groups with rare diseases are more difficult to care for, therefore the total loss of income is also higher because one of the households quits their job. When evaluated for all participants; It was observed that the economic cost of the disease was above 10% of their average annual income of 70.13% of the participants and above their average income of 26.11%.
Considering the out-of-pocket expenditures of all participants based on their average annual income, it is seen that the participants allocated 30% of their average annual income to expenditures associated with their rare diseases. It was observed that 7.74% of the participants allocated more than all of their average annual income and 59.51% did more than 10% of their average annual income to out-of-pocket expenses associated with rare disease. It is understood that households experiencing this situation maintain their lives through financial support provided from non-governmental organizations, municipalities, patient associations or by friends, relatives, neighbors and through bank loans and/or borrowing. Excessive out-of-pocket expenses can result in catastrophic expenditures. The catastrophic effect occurs when health expenditures exceed a certain threshold and often has an impoverishing effect on households. Although there are two different threshold definitions in the literature, expenditures above 10% of household total income and 40% of non-food expenditures (payment capacity) are considered catastrophic [21]. When evaluated in accordance with this explanation, it can be said that almost 60% of participants with rare diseases are exposed to catastrophic health expenditure.
Among all diseases, rare diseases of more than 10 people were specially analyzed, and it was seen that the highest average out-of-pocket expenditure among these diseases was in extrophy vesica disease. In addition, the average out-of-pocket expenditure in DMD, cystic fibrosis, cystinosis and SMA disease are similar. The disease with the lowest out-of-pocket expenditure was determined as albinism. The area of expenditure according to the type of disease also varies. Although out-of-pocket expenditure amounts are similar, when evaluated on expenditure group basis; Medical and non-medical devices and supplies in albinism (32%) and SMA (41%), special nutrition in DMD (20%) and phenylketonuria (71%), and transportation/accommodation/food expenses in patients with extrophy vesica (47%), cystic fibrosis (24%) and cystinosis (32%) were found to be the highest expenditure groups. In the research conducted by TURKSTAT, out-of-pocket expenditure per capita for 2019 was found to be ₺407 [22]. Statistics on out-of-pocket health expenditures, including TURKSTAT data, omit the costs in accessing the healthcare. According to the general average, approximately 31 times the expenditure is made in households where individuals with rare diseases live. This, in addition to being economically destructive, also brings about health inequalities.