9621 Agnes Crossing, Lake Suzanneview, New Mexico Island 84604-9295.
Beatriz Fernandes da Silva, 20, suffers from osteogenesis imperfecta, popularly known as the “fragile bone disease” | PERSONAL FILE From infancy, Beatriz Fernandes da Silva had to be
From infancy, Beatriz Fernandes da Silva had to be careful not to fall and hurt herself. While still in her mother’s womb, doctors noticed something different on the ultrasound and warned that the girl could be born with a form of osteopenia (low bone density) or even dwarfism. A month after his birth, his mother went to replace him and with a simple move broke his arm. At that moment, her parents rushed to the hospital, where they asked if the baby had been abused. “The doctor asked, and I said no. Another person came, they looked at him, and they saw that the white of his eye was blue. That’s when they discovered the disease he had,” says Shirlei Fernandes Serra, Beatriz’s mother.
Doctors diagnosed him with osteogenesis imperfecta, popularly known as the “brittle bone” disease. This genetic condition leads to bone fragility and its main consequences are fractures and deformities. Therefore, Beatriz, who is now 20 years old, is only 1.22 meters tall she.
Despite some limitations, Beatriz tried to lead a normal life like any girl. “I was naughty. He hit me hard, she was on a skateboard, and she was a crazy girl,” she recalls slyly. Her mother says she was careful but didn’t overdo it: “I never deprived her or raised her with cotton wool. I even let her skateboard and she acquired incredible skill.”
Throughout his development, he has experienced various pains and fractures from simple daily movements. What did you say broken a finger overwhelming an ant, e.g. In another incident, he fell on his back and broke his leg—it was S-shaped—and his elbow while trying to do a backflip. As a result, they had to drive a nail into his leg. But his worst experience was at school when he was 12. A boy jokingly tried to kiss her foot, but she turned and hit her left leg.
He broke his limb and also broke his right side out of fear. “I had a rod in my shin at the time and it broke so badly that it bent and had to be removed. I had three rods then and now I have two,” he recalls. After the accident he had to go to the hospital immediately for emergency surgery. The incident traumatized him and Beatriz quit her studies.I was worried about going to school. That’s why I didn’t go for 4 years. In many ways I cried,” says BBC Brazil.
She maintained a home care routine during her break and it took some time before she wanted to go back to school. “I didn’t like working at home because it reminded me of what had happened. And when I was 14, I didn’t know how to write by hand,” she complains. When she decided to continue her education, she had to start primary school, even though she was young. Today, she’s in her second year of high school at night.
Beatriz was accompanied by professionals from the public health system as a child and was treated with a drug called sodium pamidronate, which is responsible for regulating the amount of calcium in the body. He had to go to the hospital every three months and take the medicine for five days. He suffered frequent blood draws and head punctures throughout therapy.
According to the student, the pursuit was very painful and difficult. She said she had a very strong reaction because she was so invasive, and she was with her mother eight years ago. not to follow with this treatment. “My mom got scared and decided to stop. But today I feel normal. When I have a more serious fracture, I go to the hospital,” she explains.
In addition to this follow-up, surgical procedures were performed when he had very serious fractures. “I have ten surgeries in total, and my mom says I’ve had about 100 fractures already,” she says.
Her mother says that when she was 14, her broken bones began to decrease and she gained a better quality of life. Currently, basic care is barely followed, such as not walking on wet floors or other slippery environments, to prevent falls and serious fractures.
Despite her short stature, Beatriz says she manages well at home and takes care of the housework. She uses a wheelchair to move long distances because otherwise she gets tired and has a lot of pain in her feet. But her biggest challenge is accessibility when she has to go to school and roam the streets.
“If I find the elevator broken, the drivers won’t help me get on the bus. One time someone didn’t stop and I had to report him to the police. This is my right,” he says.
She states that to this day, some people and friends are surprised that she is a normal young woman. “Discrimination is very strong, especially when it comes to the party. I am an example of overcoming. There are people who congratulate me even for drinking.
Beatriz managed to talk about brittle bone disease even more by posting videos on the Tik Tok social network. With astonishing dedication, the young woman received a positive response in just a few days.
Posts about the disease quickly went viral, with one of his videos getting 1.1 million views and more than 112,000 followers. He says he did not expect such a positive impact and did not expect such intriguing questions.
“They had doubts about how I broke my neck, and they even asked if my bones were really glass,” she laughs.
Beatriz has opened an online menswear store and also sells team jerseys. She plans to continue in the audio-visual field when she finishes high school.
Osteogenesis imperfecta is a disease caused by a defect in the genes primarily responsible for the production of type 1 collagen, which causes changes in bone formation, dentin in teeth, sclera and ligaments of the eyes. Just like Beatriz, people can be born with this condition.
However, in some cases the onset may occur later, in the perinatal period. “You can present the fracture in the first year of life, or just after the first year, which characterizes less or greater severity of the disease,” says Daniel Ferreira Fernandes, MD, an orthopedist and professor of medicine at the Pontifical Catholic University of Paraná, Brazil.
Glass bone disease can be divided into four degrees, the most serious is type 2, and the child can be injured even in the womb. “This is a fatal form and the baby dies shortly after birth or within a few weeks,” explains orthopedist Adenor Israel de Oliveira, Curitiba Institute of Neurology and Cardiology.
At levels 3 and 4, the classic features of dwarfism are presented, such as a triangular face and short stature. “Grade 3 is the second most serious form because it causes too much flexion of the extremities and these reduce the person’s mechanical resistance. These are often people who need treatment for the rest of their lives,” reaffirms Oliveira, who is also a member of the Brazilian Pediatric Orthopedic Association.
Fractures can occur after what is generally considered minor trauma and cause little discomfort. However, chronic pain can occur from bone deformities that are sequelae of broken bones. “There are milder and also more severe forms of osteogenesis imperfecta. The more severe it is, the more fractures occur and the earlier the disease occurs,” says Ferreira Fernandes. and reappears in men 60 years later.
The most common symptom is chronic pain from bone deformities and fractures. The main features of the disease are bone fragility, dental malformation, bluish sclera of the eye and general laxity of the ligaments. In the spine, the change in the shape of the vertebrae leads to deformities such as kyphosis (humpback) and scoliosis (curvature of the spine) in the thoracic spine region, aggravated by osteoporosis and fractures of the vertebrae. Hearing loss can also occur and affects 50% of patients, according to Ferreira Fernandes.
Treatment is multidisciplinary and involves several specialized professionals. The main goal is to achieve the highest possible functionality of the limbs, which gives the individual a better quality of life and independence in daily activities. The use of specific drugs that are effective against osteoporosis and prevent bone resorption is also part of the treatment. As part of care, there is also the prevention of fractures, stimulation of orthostasis (standing), walking and muscle strengthening.
Source: El Nacional
Alice Smith is a seasoned journalist and writer for Div Bracket. She has a keen sense of what’s important and is always on top of the latest trends. Alice provides in-depth coverage of the most talked-about news stories, delivering insightful and thought-provoking articles that keep her readers informed and engaged.
