Since she was a baby, São Paulo student Beatriz Fernandes da Silva, now 20 years old, needs to be careful not to fall and get hurt.
When it was still in the mother’s belly, the doctors noticed something different during the ultrasound and warned that the child could be born with some type of osteopenia or even dwarfism.
A month after her birth, her mother went to change her and with a single movement she broke her arm. At the time, her parents rushed to the hospital and were even asked if the baby was being abused.
“The doctor asked me and I said no. Another came, they looked at her and saw that the white of her eye was blue. It was then that they discovered the disease she had”, recalls Shirlei Fernandes Serra, Beatriz’s mother.
Doctors gave a diagnosis of osteogenesis imperfecta, popularly known as “glass bone disease”. Of genetic origin, the condition leads to the fragility of the bones, having as main consequences fractures and deformities. Because of this, the student is only 1.22 tall and has a size 32.
Even with some limitations, Beatriz tried to lead a normal life like any other child. “I was an artist. It hurt me a lot, I skated and I was a crazy child”, jokes the student.
Her mother says she was careful, but nothing extreme. “I never deprived her and raised her in a dome. Even skateboarding, I did. She picked up an amazing skill on skateboarding.”
Beatriz suffered several pains and fractures throughout her life, once, she fell sitting down and broke her leg in the shape of an S — Photo: Personal Archive
Throughout its development, it experienced several pains and fractures during simple day-to-day actions. She says that she has already broken her finger killing an ant, for example. Another time she fell on her back and broke her S-shaped leg and elbow while trying to somersault. In the latter, she had to put a pin in the member.
But his worst experience was at school, at the age of 12. During a high school prank, a boy tried to kiss his foot, turned around and grabbed his left leg. In doing so, he broke his limb and, with fright, Beatriz also fractured her right side.
“At that time I had a rod in my shin and it broke so badly that it bent and had to be removed. At the time, I had three rods and now I have two”, he recalls. After the accident, she had to rush to the hospital for emergency surgery.
The incident caused trauma to the student who dropped out of school for four years, compromising her studies. “It made me anxious to go to school. I didn’t go for four years because of that. I cried all the way around”, she tells BBC News Brasil.
Because of the break, she maintained a care routine at home and it took her a while to want to return to the school environment. “I didn’t like to study at home, because I remembered what happened. I didn’t know how to write in handwriting at the age of 14”, she laments.
When he decided to return to his studies, he had to start in elementary school, even though he was a teenager. Today, she is still in her second year of high school, at night.
Difficult and exhausting treatment
During her childhood, the São Paulo woman was accompanied by professionals from the SUS (Unified Health System) and was treated with a drug called sodium pamidronate, responsible for regulating the amount of calcium in the body. She needed to go to Santa Casa, in São Paulo, every three months and use the medication for five days.
During therapy, she was subjected to frequent blood draws and head stings. According to the student, the follow-up was very painful and difficult. Because it is something very invasive, the paulista says that she had a very strong reaction and it’s been eight years since she and her mother chose not to continue treating it that way. “My mother was afraid and decided to stop. But today I feel normal. When I have a more serious fracture, I go to the hospital”, she says.
In addition to this follow-up, she also underwent surgical procedures when she had a very serious fracture. “In all, I have ten surgeries and my mother says that I have already suffered about 100 fractures”, says the student.
When she started to get older, around the age of 14, the breaking of bones started to decrease and she gained a better quality of life, says the student’s mother. Currently, she continues to take only basic care such as not walking on wet floors and other slippery environments to avoid falls and severe fractures.
Even with a short stature, Beatriz says that she manages well at home and “takes care of” household chores. However, when she needs to go to school and move around the streets, her greatest difficulty is accessibility.
“I find the elevator broken and the drivers don’t help me get on the bus. Once one didn’t stop and I had to file a police report. It’s my right”, he says. To help with walking, she uses a wheelchair, as she gets a little tired and feels a lot of pain in her feet when she travels long distances without using the device.
She claims that to this day some people and friends are surprised that she is a normal young woman. “Today, capacitism is very strong, especially when it comes to hanging out. I am an example of overcoming it. Some people congratulate me even because I drink”.
Social media phenomenon
Beatriz was able to talk even more about the “glass bone disease” by sharing videos on the social network Tik Tok. With surprising engagement, the young woman had a positive response in just a few days.
Posts about the condition quickly went viral and today, just one video already has 1.1 million views. His followers reach just over 100,000 followers.
She says she didn’t expect such a positive impact. The student jokes that she didn’t expect such curious questions either. “They had doubts about how I cracked my neck and even asked if my bones were really made of glass”, she jokes.
The student does not work 100% with content production, but already undertakes on the internet. Beatriz opened an online men’s clothing store and also sells team shirts. When she finishes high school, she intends to continue in the audiovisual field.
What is Osteogenesis Imperfecta?
It is a disease of genetic origin, which occurs because of a defect in the genes responsible for the production of type 1 collagen, causing changes mainly in the formation of bones, dentin of teeth, sclera in the eyes and ligaments.
As with Beatriz, the child can already be born with the condition. However, in some cases, the onset may appear later, in the perinatal period.
“It can present fractures during the first year of life or only after the first year, which characterizes the lesser or greater severity of the disease”, highlights Daniel Ferreira Fernandes, an orthopedist and professor of the Medicine course at the Pontifical Catholic University of Paraná ( PUCPR).
The condition can be divided into 4 degrees, the most serious being type 2, where the child can suffer injuries even inside the mother’s uterus. “This is a lethal form and the baby dies soon after delivery or a few weeks later”, explains Adenor Israel de Oliveira, an orthopedist at Hospital INC (Institute of Neurology and Cardiology of Curitiba).
At levels 3 and 4, classic traits of dwarfism occur, such as a triangular face and short stature. “Grade 3 is the second most serious form because it causes a lot of limb bending and these reduce the person’s mechanical resistance. They are usually people who need treatment for the rest of their lives”, reinforces Oliveira, who is also a member of the SBOP (Brazilian Society of Pediatric Orthopedics).
Will bones always break?
Fractures can usually occur after trauma considered mild and may cause little discomfort. However, chronic pain can occur from bone deformities, which are sequelae of broken bones.
“There are milder and also more severe forms of presentation of osteogenesis imperfecta. The more severe, the greater the occurrence of fractures and the earlier the disease manifests itself”, says the orthopedist at PUCPR.
At puberty, because of hormonal changes, the risk of fractures decreases. But it reappears in women after menopause and in men after age 60.
The most common symptom is chronic pain, resulting from bone deformities and fractures. The main features of the disease are bone fragility, dental malformation, bluish eye sclera and generalized laxity of the ligaments.
In the spine, the change in the shape of the vertebrae leads to deformities of the thoracic spine region such as kyphosis (hunchback) and scoliosis (crooked spine), which are aggravated by osteoporosis and fractures in the vertebrae. According to Fernandes, hearing loss can also occur and affects 50% of individuals.
What is the treatment for “glass bone disease”?
Treatment is multidisciplinary and involves a number of specialized professionals. The main objective is to obtain as much function as possible from the limbs, giving the individual a greater quality of life and independence in daily activities.
The use of specific drugs, which act against osteoporosis and inhibit bone resorption, are also part of the therapy.
As part of the care, there is also the prevention of fractures, stimulation of orthostatism (standing), walking and muscle strengthening.