Illness causes episodes of acute pain that can lead to long hospital stays.
THAT sickle cell disease It is an inherited condition that causes changes in red blood cells and is considered the most common inherited disorder in Brazil.
In this way, red blood cells, which have a slightly rounded appearance, become deformed and take on a different shape resembling a seal, hence the name “seal cell”.
Due to the change in structure, the blood cells are “stuck” and are unable to supply oxygen to the body’s organs and tissues. This “small” deformation causes serious injury to the patient, such as anemia, jaundice (yellow eyes), fatigue, in addition to the so-called vaso-occlusive crises (CVOs or VOCs, as it is commonly known in the healthcare sector), episodes of severely disabling acute pain that impair patients’ quality of life.
Despite its high prevalence, 47% of the population is unaware of the condition, according to a study conducted by Ibope. There are about 3,500 new cases a year. The incidence is higher in blacks because the disease is of African origin. Many people have the sickle cell trait, which means they do not develop the disease but can pass the gene on to future generations. In order for a child to be born with the disease, both father and mother must have the gene. If only one parent has the gene, the child can be born with the trait, but not the disease.
Diagnosis and interdisciplinary follow-up
Today, sickle cell disease is diagnosed through Foot testmade shortly after Birth. Through the test, the patient is followed up by a hematology team at a specialized referral center. Because it is a chronic disease, nutritional and psychological monitoring is also important. Physiotherapy can also be used in treatment.
However, in addition, follow-up by other specialists, such as a neurologist, cardiologist and nephrologist, may still be necessary, as sickle cell disease can cause a number of complications, such as pulmonary hypertension, a greater risk of cerebrovascular accident (stroke)changes in the kidneys that may lead to renal failure, retinopathy (damage to the retina) and ulcers in the lower extremities. Due to the higher risk of infections, dental follow-up is still important as many infections start in the mouth.
Since it is a chronic disease, follow-up is for life. “Each state has its own reference service. Often the patient lives far from the referral center, and we recommend joint follow-up at the health unit close to their home,” explains Dr. Rita de Cássia, hematologist. the prevention of infectious diseases so that they also follow the issue of vaccines at the basic health unit. “
According to the doctor, the life expectancy of these patients was previously 55 years. “But that changed with the advent of antibiotics, better self-care, as patients are more aware of the disease, in addition to the medication we have had in recent years,” he explains.
Late detection of the disease can cause sequelae
Social worker Sheila Pereira, 41, was first diagnosed at the age of 7 when her mother realized that her difficulty walking and swollen joints could be a sign of something serious. At that time, no tests had yet been performed to diagnose the condition in newborns. The lack of knowledge about the disease made the situation even more difficult. “The first diagnosis was arthritis, but the medication used for arthritis ended up hurting me.” From there, a genetic mapping was performed, and it was discovered that Sheila’s father and little sister, at the time 2 years old, also had the disease, while her mother only had the sickle cell trait – which is a genetic change and not a disease.
The difference in the two cases is that in sickle cell disease there is a genetic change in hemoglobin, which changes from type A to type S. People with the trait do not develop sickle cell disease and therefore have no symptoms and do not need treatment. See:
- People who do not have the disease or sickle cell traits: Normal hemoglobin (AA);
- People with sickle cell disease: Hemoglobin altered in homozygosity or heterozygosity with other variants (SS, SC, SD, SE, S / β0-thalassemia or S / β + -thalassemia);
- Humans with only sickle cell characteristics: Partially altered hemoglobin (AS).
Therefore, both parents must have the gene for the baby to be born with the disease. If only one parent carries the gene, the child can only inherit the trait. In Sheila’s case, both parents had the gene: the father with the disease and the mother with the trait.
With frequent pain, the consequences in Sheila’s life were many, from the difficulty of playing like the other children and not attending sports lessons, she repeated two years in school due to long and recurrent hospitalizations, which caused interruption of studies in her teens. Sheila’s younger sister died in 2013, aged 29, of kidney failure due to sickle cell disease.
Life expectancy for Brazilians is 77 years, but according to the mortality study cited at the beginning of the report, sickle cell disease may be related to a reduction of up to 37 life years in Brazil. According to the study, the leading causes of death among people with the disease are sepsis (generalized infection) and respiratory failure.
Sheila and her sister had a number of problems due to incorrect treatment. But today, according to Dr. Rita, sickle cell disease is technically well known. ‘What happens is that pain measurement is a very private thing. So sometimes it’s the patient who goes to the same emergency room many times. In other words, everyone already knows him. Sometimes the team may reduce this understanding of the patient’s symptom, may not give the necessary meaning, may not appreciate pain. Our mission is to take the pain away and not pass judgment, ”he says.
Pain attacks are disabling
Sheila says the crises start with a feeling of discomfort, fatigue and weakness. Then there is a sting of pain (sometimes triggered by certain movements), which gradually increases until it becomes so intense that the person is unable to perform any task. “To this day, there are the pains I can bear, I can do things slowly, treat them at home. But there are the pains that grow to the point that they become unbearable, that we cry. Then you have to go to the hospital. , because only with medicine in the vein to get better. ”In some cases, a transfusion may also be necessary due to a lack of oxygen in the blood.
Prejudices and ignorance about the intensity of crises can have a very negative impact on patients’ lives. The pain is very disabling and causes the person to miss many days at work. According to the International Sickle Cell World Assessment Survey (SWAY), conducted with more than 2,000 patients in 16 countries, patients claim to have missed more than one workday per week (8.3 hours in 7 days) due to the disease. Therefore, it is common for the company to have the image of someone who e.g. is lazy or relaxed. Even friends and family may have a hard time understanding the situation. Sometimes they think the patient is making a “soft body”.
The importance of mental health care
With so many difficulties and challenges that are not only limited to the person’s health, but that affect all areas of life, it is extremely important to have a reception, a support network and psychological help. “The disease brings several imbalances: you feel out of place, you always think you are different from others, you always hear negative comments, you always live with this fear of death,” Sheila says.
“It’s always a fresh start. Things are not waiting for you, the system is not waiting for you. The boss will not wait for that employee to come back. The school will not understand that student was absent because he had limitations. Today , with all the progress, we always say to people: ‘you can’. We can, everything within our borders. But for that you have to work on the psychological “, he says.
Sheila currently holds the chairmanship of the Associação Pró-Falcemics (APROFe) – a non-profit institution whose mission is to expand access to treatments for diseases affecting the black population, founded by people with sickle cell disease and seeking to help patients with this condition. Sheila says she is always very involved with patients. “This is where I am today, and this is where I learned to accept myself and live better with the disease,” he says. “My mother did not have this reception, an orientation. And today we are able to give it to many families that they are not alone ”.
This mental health care should include the patients’ family members and relatives, most often the mothers. Many of them also get sick, such is the stress and worry that the situation causes in their lives. Therefore, it is essential that these people have reception and psychological support, in addition to the opportunity to dedicate themselves to their activities and not just live to treat their children’s illness. Sheila’s mother ended up getting sick and died at the age of 36 after a stroke. “There was no time, there was nothing to look after her, no care for herself. That’s what I see in mothers today, because they stop taking care of themselves to take care of the person. That It is essential for relatives to have this psychological help, ”explains the social worker.
for dr. Rita, the issue of self-care is very important. “That’s what makes the difference in this disease. Remember medicine, remember vaccine prevention, cancer prevention, remember hydration (take 2 to 3 liters of fluid a day). You need to take care of your skin, take care of your mouth. Self-care increases self-esteem and by to increase self-esteem you always want to feel good, you want to love yourself and you want to feel loved ”, he concludes.
Also see: What are the most common diseases in the black population?
With the aim of drawing the attention of society and health decision-makers to the challenges and prejudices that people with sickle cell disease experience, clarifying the population about the disease and seeking interventions that actually lead to an increase and improvement in the lives of these patients. , APROFe, in collaboration with ABHH – Brazilian Hematology, Hemotherapy and Cell Therapy Association – and with support from Collabore com o Futuro and other patient associations, developed the #EuSinto campaign.
Created with the aim of showing the population that sickle cell disease is devastating but has no visible signs and is therefore neglected by society, the #EuSinto campaign aims to work on public policies, expand access to medicine and thus improve the treatment and quality of life for patients with sickle cell disease.
In addition to facing barriers of inequality and prejudice, patients with sickle cell disease see that the opportunities and hope for access to innovation in new health technologies are being neglected in relation to other diseases.
“With this scenario and with the aim of increasing the visibility of the disease, we want to draw society’s attention to the cause and make the health of patients with sickle cell disease a priority for the government to improve, control and implement public policies, coverage systems and delivery of care and treatments, Sheila says.
Content developed in collaboration with NOVARTIS https://www.novartis.com.br/