“I already suffered 100 fractures”: what it is like to live with brittle bone disease

Since she was a baby, Beatriz Fernandes da Silva has had to be careful not to fall and hurt herself.

When she was still in her mother’s womb, doctors noticed something different on the ultrasound and warned that the girl could be born with some kind of osteopenia -lower bone density- or even dwarfism.

A month after her birth, her mother went to change her and with a simple movement he broke his arm. At that moment, her parents ran to the hospital, where they came to ask if the baby had been 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. That was when they discovered the disease she had,” recalls Shirlei Fernandes Serra, mother of Beatriz.

Doctors diagnosed him with osteogenesis imperfecta, popularly known as the glass bone disease.

Genetic in origin, the condition leads to bone fragility and has as its main consequences fractures and deformities. Because of this, Beatriz – now 20 years old – is only 1.22m tall.

Trying to be a normal girl

Even with some limitations, Beatriz tried to lead a normal life like any girl. “I was naughty. I beat myself up a lot, I was skateboarding and I was a crazy girl,” she recalls mischievously.

Her mother says she was careful, but nothing extreme: “I never deprived her or raised her on cotton wool. I even let her ride a skateboard, and she acquired amazing skill.”

Throughout his development, he experienced various pains and fractures from simple day-to-day actions. He says that he broke his finger crushing an antfor example.

On another occasion, he fell on his back and broke his leg – it was in an S shape – and his elbow while trying to do a backflip. As a result, they had to put a nail in her limb.

But his worst experience was at school when he was 12 years old. One boy jokingly tried to kiss his foot, but he spun around and hit him in the left leg. She fractured her limb and, because of her fright, her right side was also fractured.

“At that time I had a rod in my tibia and it broke so badly that it bent and had to be removed. At that time I had three rods and now I have two,” he recalls. After the accident, she had to go immediately to the hospital for emergency surgery.

The incident caused her trauma and Beatriz abandoned her studies. “I got anxious about going to school. I didn’t go for four years because of that. I cried in many ways,” he tells BBC Brazil.

During the break, she maintained a home care routine and it took a while for her to want to return to school. “I didn’t like studying at home because it reminded me of what happened. And, at 14, I didn’t know how to write in handwriting,” she laments.

When he decided to resume his studies, he had to start in primary school, even though he was a teenager. Today he is in his second year of secondary school, where he attends at night.

Difficult and exhausting treatment

Beatriz was accompanied in her childhood by professionals from the public health system and was treated with a drug called sodium pamidronate, responsible for regulating the amount of calcium in the body. She had to go to the hospital every three months and use the medicine for five days.

Throughout the therapy she was subjected to frequent blood draws and punctures to the head. According to the student, the follow-up was very painful and difficult. Because it is something very invasive, she says that she had a very strong reaction and eight years ago she and her mother opted for do not continue with that treatment.

“My mother was scared and decided to stop. But today I feel normal. When I have a more serious fracture, I go to the hospital,” he explains.

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In addition to this follow-up, he underwent surgical procedures when he had very serious fractures. “In total I have ten surgeries and my mother says that I have already suffered about 100 fractures“, indicates.

When he was about 14 years old, his broken bones began to decrease and he gained a better quality of life, says his mother. Currently, she barely follows basic care, such as not walking on wet floors or other slippery environments to avoid falls and severe fractures.

Although short in stature, Beatriz says that 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 her feet hurt a lot.

However, when you need to go to school and move through the streets, its biggest difficulty is accessibility.

“The drivers don’t help me get on the bus if I find the elevator broken. Once one didn’t stop and I had to report it to the police. It’s 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 partying. I am an example of self-improvement. There are people who even congratulate me because I drink.”

Phenomenon in social networks

Beatriz was able to talk even more about “crystal bone disease” by sharing videos on the Tik Tok social network. With surprising commitment, the young Ella had a positive response in just a few days.

Posts about the disease quickly went viral, one of his videos has 1.1 million views, and he has just over 112,000 followers.

He says that he did not expect such a positive impact and that he did not expect such curious questions. “They had doubts about how I broke my neck and even asked if my bones were really glass“, he recounts between laughs.

Beatrice opened a store on-line menswear and also sells team jerseys. When he finishes high school he intends to continue in the audiovisual field.

What is osteogenesis imperfecta?

Osteogenesis imperfecta is a disease caused by a defect in the genes responsible for the production of type 1 collagenwhich causes alterations mainly in the formation of bones, the dentin in the teeth, the sclera of the eyes and the ligaments.

Just like Beatriz, people can be born with the condition. However, in some cases, the onset may appear later, in the perinatal period.

“You can present fractures during the first year of life or immediately after the first year, which characterizes the lesser or greater severity of the disease,” highlights Daniel Ferreira Fernandes, orthopedist and professor of Medicine at the Pontifical Catholic University of Paraná (Brazil). .

Glass bone disease can be divided into four degreesthe most serious being type 2, in which the child can suffer injuries even inside the mother’s womb.

“This is a lethal form and the baby dies shortly after delivery or a few weeks later,” explains Adenor Israel de Oliveira, an orthopedist at the Institute of Neurology and Cardiology of Curitiba.

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 a lot of flexion of the limbs 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 Brazilian Society of Pediatric Orthopedics.

Do bones continue to break throughout life?

Fractures can usually occur after what is considered minor trauma 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“, says Ferreira Fernandes.

At puberty, due to hormonal changes, the risk of fractures decreases. But it reappears in women after menopause and in men after 60 years.

Symptoms

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 sclera of the eye, and generalized ligamentous laxity.

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 Ferreira Fernandes, hearing loss can also occur and affects 50% of patients.

What is the treatment for “brittle bone disease”?

The treatment is multidisciplinary and involves several specialized professionals.

The main objective is to obtain the greatest possible functionality of the limbs, which gives the individual a better 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, the stimulation of orthostasis (standing), walking and muscle strengthening.