According to the WHO, a rare disease affects 65 people in each group of 100,000 individuals, less than one in every thousand people. 80% of rare diseases are genetic in origin. Rare diseases are usually chronic, progressive, disabling, and potentially fatal. In Brazil, it is estimated that 13 million people have a rare disease. For 30 years, rare diseases have been the second leading cause of infant mortality in Brazil. Rare diseases still have no cure, but it has treatments aimed at relieving and delaying the symptoms.
The WHO has cataloged more than 6,000 rare diseases. If, on the one hand, this amount favors us in numbers, showing that we are not that rare; on the other hand, the variety also reflects some different needs, which can fragment our struggles. But the great demands are common to all: early diagnosis, neonatal screening, Clinical Protocols and Therapeutic Guidelines (PCDT) that regulate multidisciplinary treatment, professional training, regionalized reference, and competence centers, and epidemiological databases, among others.
At first, receiving a rare disease diagnosis was tantamount to a premature or imminent death sentence. But the increasing advancement of science and new technologies has been changing this reality and, with that, new demands are appearing.
Pathologies such as amyotrophic lateral sclerosis, Machado-Joseph disease, and muscular dystrophies have been surprising with increasingly long-lived patients and quality of life, despite the severity of symptoms.
The journey of the patient with a rare disease
To better describe the journey of the person with a rare disease and their family, let’s use Duchenne muscular dystrophy (DMD) as an example, one of the rare diseases with the highest incidence in Brazil, affecting 1 in every 3,500 boys. DMD is a pathology that causes generalized and irreversible weakness of the entire musculature, progressing to heart and respiratory failure, its leading causes of death.
DMD diagnosis can still take three to 10 years in Brazil. At the end of adolescence, these boys need help from others for the essential activities (hygiene, food, use of sanitary facilities, moving around, administering medication, etc.) to be daytime.
In Brazil, the 24-hour private caregiver service costs, on average, R$ 10,000 per month. Unfeasible even for a middle-class family, which already bears the high cost of treatment.
Families end up ‘electing’ a caregiver who, over time, plays a decisive role in health care, including medical knowledge about the person cared for and organizational and psychological support in the treatment.
With this, the patient can study, train and work, becoming productive, generating income, and paying taxes instead of burdening the health and social assistance systems. In this sense, this ‘care’ is the foundation that sustains our public systems. Despite this, care is overwhelmingly exercised by a family member in an unpaid and invisible way.
A survey in Australia in 2015 estimated the annual value provided by family/informal caregivers, just for those suffering from mental illness, at 13.2 billion Australian dollars – almost double what the government spent on mental health services.
More than 100 million caregivers in Europe provide 80% of care for older people with chronic or rare diseases and severe disabilities. In Brazil, statistical studies are very few. One of them, from 2013, carried out in São Paulo, showed that the additional costs for the family of an elderly and disabled person who requires care ranged from two to 14 times the national minimum wage, depending on the severity of the symptoms.
A question of gender
Here, rare academic works point to gender as the second determining factor in the care relationship since, in the popular imagination, care is a domestic and feminine activity; thus, most caregivers are women, making care a gender issue.
Seventy-eight percent of men leave home when a child with a rare disease is born, with the mother becoming the primary caregiver and provider. Sixty-three percent of caregivers die before the person being cared for due to physical and emotional overload, which manifests itself in the second year of care. Studies have already observed an increase in the suicide rate among family caregivers.
Despite these numbers, informal/family caregivers are ignored by many governments. They are citizens without social protection, wages, pensions, days off, or vacations. And, over time, they become – themselves – dependent on society.
Patients with DMD and other rare diseases are subject to complications and prolonged hospital stays without care. The daily rate for an ICU bed with a specialized multidisciplinary team and life support resources varies between 3 and 75 thousand reais. They are resources of the Unified Health System (SUS), coming from taxes of the whole society.
For a Public Policy on Informal Caregivers
The Public Policy for Caregivers (also called “personal assistants”) has existed in the Nordic countries since the 1980s. It has been perfected in the United Kingdom (especially in England) since 2007. In 2020 Portugal started building its model, linked to the concept of “independent living,” which would be a kind of “republic” for patients whose caregivers aged or died before them. There is no one left to assist them.
The Public Policy for Informal Caregivers (Personal Assistants) we propose for Brazil is based on these models. And, due to our territorial dimensions and diversity, like the format proposed for Reference Centers in Rare Diseases by Ordinance 199/2014, entities or companies could be accredited – based on a specification – to perform the service.
The Public Policy on Informal Caregivers is the answer to this new and growing demand from patients with rare diseases, where all actors involved benefit: the patient, with quality and life expectancy; family caregivers, with productivity and citizenship; “care health” professionals, generating jobs and income; and society as a whole, with the exemption of health and social assistance systems.
SDGs of the 2030 Agenda related to this text
Rosana Puga de Moraes Martinez is President of the Association of Neuromuscular Diseases (ADONE) – Mato Grosso do Sul