Osteogenesis imperfecta, which causes fractures even from light touch or sudden movement
Posted on 04.04.2024 at 06.45 Posted on 04.04.2024 at 06.45 Modified on 04.03.2024 at 16.52 Views 0
There are twin sisters who were born with bones as weak as eggshells. [사진=’더선’ 보도내용 캡처]There are twin sisters who were born with bones as weak as eggshells. The two children suffered multiple fractures throughout their bodies at birth and had little chance of survival, but they have grown well under their parents’ care and are now three years old.
The British newspaper The Sun reported the story of three-year-old twins Mariam and Mia living in Atlanta, Georgia, USA. According to Rayan (27), a mother of two, during an examination at the twentieth week of pregnancy, it was discovered that the babies were growing slowly and had bent arms and legs. However, all genetic tests were normal and the doctor decided to continue monitoring. Rayan recalled, “I thought it would be okay if I stretched out my arms and legs, and I thought it was no big deal since I was just born a little small.”
Since the twins’ limbs were bent, natural delivery was difficult and Rajan gave birth to the babies by caesarean section. Mariam and Mia were born on August 3, 2020 at 7.06pm and 7.08pm, weighing approximately 1.3kg and 1.4kg respectively.
However, after birth, the babies had fractures all over their bodies and required splints to help their arms and legs heal. The twins underwent dozens of tests and had to wear tubes that provided oxygen and nutrition while their bones healed.
Four weeks after birth, the babies were diagnosed with osteogenesis imperfecta. Rayan said: “The doctors said osteogenesis imperfecta occurred because a genetic mutation occurred while the egg was dividing in the uterus. “It was type 2, the most lethal,” she said.
The medical staff basically told them not to have high expectations because the chances of survival were low, but the parents weren’t about to give up. They began seeking help and advice from experts in osteogenesis imperfecta.
I couldn’t hold my children in my arms for five months until their bones healed. I then picked up the twins, who had suffered countless fractures, changed their clothes, and held them with great care, as if I were handling a fragile doll. Hugging, touching, sudden movements and sometimes for no apparent reason can easily cause bones to break.
Both children can now sit without help from others. [사진=’더선’ 보도내용 캡처]However, the children seemed to improve, smile and feel comfortable. Babies returning home four months after birth still require 24-hour care. The twins, who turned one in September 2021, now have type 3 osteogenesis imperfecta, which is less severe than type 2. He was able to sit up without assistance and the feeding tube was removed in December 2022. Metal rods were then inserted into his arms and legs to reduce the fractures.
Rayan created a TikTok account to share the process of raising his children. He said: “He is still very small, but eventually he will be able to perform all the procedures like other children his age.”
Osteogenesis imperfecta, in which bones break easily without any particular cause
Osteogenesis imperfecta is a genetic disease in which bones break easily without any significant impact or special cause. It is broadly classified into four types and manifests itself in various ways depending on the severity of the disease. Type 2 is particularly fatal. Some people experience only a few fractures in their lives, while others experience hundreds of fractures.
Osteogenesis imperfecta is caused by a defect in the gene involved in the production of collagen in the body. Collagen is an important protein in connective tissue and plays a role as the framework of architectural structures. Patients with osteogenesis imperfecta produce less or defective collagen than normal due to a faulty gene, which causes bones to break easily.
Clinical manifestations vary from person to person △ Fractures occur with minimal force △ Shape distortion such as bones shortening or bending △ The whites of the eyes appear blue or gray △ Teeth may break easily △ Hearing between 20s and 30s There is a possibility of starting a loss. To date there is no cure.
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