National Survey of Caregivers of Rare Patients in Brazil shows that mothers represent 81% of caregivers of patients with rare diseases. Of this percentage, 78% accompany the patient 24 hours a day and 46% had to resign from their job to take care of the patient. Another fact is that 65% of these mothers say they do not feel fully recognized for their work as a caregiver.
The study was commissioned by Casa Hunter, a non-profit organization that promotes assistance to people with genetic diseases, with support from the Brazilian Federation of Rare Disease Associations (Febrararas).
According to the World Health Organization (WHO), rare diseases affect up to 65 people for every 100,000 people, that is: 1.3 for every 2,000 individuals. In Brazil, there are 13 million people with rare diseases.
The neuropediatrician, Ciro Matsui, a collaborating physician at the Neuromuscular Diseases Outpatient Clinic at Hospital das Clínicas and a member of the Scientific Department of Neuromuscular Diseases of the Brazilian Society of Child Neurology, explains that isolated diseases are considered rare, but together they reach 7,000 diseases.
“The diagnosis depends on which disease is in question. Many of them will affect children, but some start in adulthood. Most have a genetic origin, but not necessarily.”
Currently, the foot test diagnoses only 6 rare diseases, among the 7 thousand existing – Edilson Rodrigues/Agência Senado
The heel prick test, an exam made from blood collected from the baby’s heel shortly after birth, diagnoses only six rare diseases. The exam is offered free of charge by the Unified Health System (SUS) in all maternity hospitals in the country.
“The diseases identified in the heel prick test are considered rare diseases, but the heel prick test does not diagnose all rare diseases, only six today. There is a law passed to increase the number of diseases researched”, completes the specialist.
In 2021, the Federal Government expanded to 50 the number of diseases detected by the Foot Test, through Law No. 14,154 of May 26, 2021.
Iris
Student Iris Giuliani Oliveira Assis, 17, is a patient with a rare disease. She was diagnosed with spinal muscular atrophy (SMA), of the intermediate type, when she was 1 year and 8 months old. “It was a very difficult diagnosis”, says Aline Giuliane, Iris’ mother.
Aline left her career to take care of her daughter Iris, who has Spinal Muscular Atrophy – Personal archive
“SMA is a rare, genetic, neuromuscular, highly disabling disease, it is a very serious disease and it was a very complex process when we received her diagnosis. The doctor who diagnosed it didn’t give us any hope. So it was quite a traumatic process,” she recalls.
With the demand for care that the baby needed, the mother Aline, who was 24 years old at the time, abandoned her career to exclusively take care of her daughter: “The decision to stop working was very difficult, I had just graduated in arts and I had a dream of opening a cultural space with two friends. But I found myself in a very complicated situation, because, in addition to Iris getting very sick, she went through several hospitalizations, so I often ran out of there to be able to help, so I couldn’t dedicate myself, for me it was very difficult because I always I enjoyed working and was very motivated.”
The responsibility of caregivers is great. The survey shows that 92% accompany the patient in consultations, school and other external activities; 80% feed the patient; 73% perform the personal hygiene of the patient; 70% help you get dressed; 58% take them to the bathroom and 48% help the patient get around.
“Most rare diseases are progressive, degenerative and multisystemic. Therefore, people who have rare diseases are affected in a broad way, which often leads to physical disability or problems that impact the lives of these patients daily. the caregiver becomes responsible for this person almost entirely, depending on the situation and the patient’s commitment”, explains Antoine Daher, president of Casa Hunter and Febrararas.
In other words, exclusive dedication, as Aline reports. “Taking care of Iris was a decision I didn’t really have a choice to make. It was either getting on with my life or taking care of my daughter, so taking care of her was much more important.”
paternal presence
The survey also addressed the father’s participation in helping care for people with rare diseases: 78% of mothers claim to receive financial help from the patient’s father, 72% live with the patient’s father and 64% of mothers claim to receive emotional support from the father of the patient.
Financial support, in the case of Iris’s family, came from the child’s husband and father.
“Ricardo [Porva] is a professional skateboarding athlete. At the time of the diagnosis, he was at the height of his career, he traveled a lot and he was the one who brought the biggest income from the house, so I stopped working, I dropped all my dreams to take care of Iris. She was very sick at the time, it was very difficult when she was little. So I dedicated myself exclusively to caring for her”, says Aline.
About five years ago Aline returned to work. Today, she is an activist and founder of Viva Irisan institute in Uberlândia (MG) that was created with the purpose of helping to change the lives of children with neurological or motor disorders, through a space with integrated therapies and other social outreach projects for families with children with these diseases.
“Today I manage to combine care with my profession, because Iris’s father is very present today and helps in caring for her. When she was 12 years old, Ricardo started to travel less and was able to stay at home more and take care of her more. She will also be turning 18, a teenager quite independent in what is possible. Most of the time she is in school or therapy, I get to work.”
According to the survey, among caregivers, 63% miss at least one day of work a month due to patient care; 75% feel less willing to perform their work; 44% receive daily calls while working on the patient; 97% worry about the patient while they are at work; 73% have no other source of income besides formal work; 61% feel dissatisfied with the quality of the work they are delivering; 30% receive some benefit from the National Social Security Institute (INSS).
Financial situation
The survey also addressed the caregivers’ financial situation: 65% say that money is not enough and 77% say that household expenses have increased after the patient’s diagnosis. Among those interviewed, 47% have a family income of up to two minimum wages, 42% have completed higher education, 62% have no formal job and 46% have resigned to take care of the patient.
Aline says that, currently, the situation is stable, but says that she has already gone through a lot of difficulty due to the high costs of her daughter Iris’ treatments. “Today we are in a middle class, we don’t have money to spare, but we also don’t lack anything to maintain a quality life, but it wasn’t always like that. For a long time we went through a lot of financial difficulty, a lot. We need help from the INSS, which we had a lot of difficulty getting, and it came through a judicial measure. Íris required a lot of care, equipment, medication and a lot of things we got through the courts”.
Search
The president of Casa Hunter explains that the purpose of the research is to collect data to assist in the construction of public policies aimed at caregivers of people with rare diseases.
“Aware that a large number of caregivers abandon their lives and their jobs to dedicate themselves only to patients, and this also represents a financial loss for the family, which suddenly has less income and more responsibilities, we need to build public policies that think of these caregivers who provide support for these families”, defends Daher.
self care
Regarding the health of caregivers, the survey showed that 60% say they do not have a good night’s sleep (quality sleep); 68% do not perform leisure activities; 74% do not perform any type of physical activity; 63% feel that they are not willing to complete daily activities; 82% feel they don’t have the energy to complete the activities they need to do on a daily basis and 79% feel some kind of physical pain, like Aline.
“Recently I have been doing physical activity, but this after a very painful process, emotional and physical, of feeling a lot of pain, very exhausted. With a lot of cost and guidance, I managed to organize myself to take care of myself”.
With regard to mental health, respondents said that 48% feel they have lost important things in life because of patient care; 68% feel that there is really no one who understands what they are going through; 72% feel lost or forget about themselves because of the care; 55% feel that they cannot carry out all day-to-day tasks; 58% say they have more things to do on a daily basis than they could and 66% do not have social contact with other people, other than family members who live in the same household.
“This research showed the need to talk more about the caregiver’s mental health, which is directly affected by the fact that this person spends seven days a week taking care of that patient and putting himself in the background. But, in fact, the main focus here is with the construction of public policies that will benefit not only caregivers, but also the whole family, as well as financial support and recognition”, says Daher.
According to the president of the entity, Casa Hunter is in dialogue with parliamentarians who have engaged in the construction of public policies to benefit these caregivers.
Public policy
Among the public policies in force aimed at people with rare diseases are the National Policy for Comprehensive Care for People with Rare Diseases, the approval of the Guidelines for Comprehensive Care within the scope of the Unified Health System (SUS) and the expansion of financial incentives for the theme. Between 2019 and 2021, more than R$ 3.8 billion were transferred to the cost of treatments, according to information from the Ministry of Health.
Also according to the folder, there are currently more than 20 health establishments qualified as Specialized Services and Reference Centers in the country to care for people with rare diseases. These patients can also receive medical care and follow-up, according to each case, at Basic Health Units or Specialized Care.
For neuropediatrician Ciro Matsui, the main difficulties are early diagnosis and the high cost of treatments. “Some rare diseases have specific treatment, but they are still few and with the prospect of increasing the number of treatments. Difficulties of treatment are early diagnosis and the costs of certain treatments. It is important to raise awareness of rare diseases so that more people can be diagnosed and treated.”
In Aline’s opinion, there is still a lot to be done in the country for patients and their guardians. “Especially for people with rare diseases, we still live in a scenario of a lot of abandonment, a lot of difficulty in accessing diagnosis, treatment, reception, and genetic counseling, which is so important. A lot needs to happen for us to be able to have real care for these people and for these families. People who live with a rare disease, with a disability, know that at all times they bump into some barrier, and we keep trying to get through them”.
