Improving quality of life for people with brittle bone disease: osteogenesis imperfecta

Improving quality of life for people with brittle bone disease: osteogenesis imperfecta

Pascale V Guillot, from University College London, seeks to improve the quality of life for people with osteogenesis imperfecta, a chronic health condition called brittle bone disease.

Imperfect osteogenesis It is a rare genetic disease that begins to manifest itself in the womb by bone fractures and skeletal deformities. The severity of the disease ranges from mild (people can almost live a normal life) to severe (use a wheelchair because they can’t move), with the most severe cases not surviving the neonatal period and dying before or shortly after birth. . This is because there are more than a thousand different mutations in the DNA that encodes the type I collagen gene, resulting in insufficient amounts of type I collagen or an abnormal type I collagen molecule.

Type I collagen is a protein that is the main component of bones and skin, but also other organs, including the kidneys, heart, and teeth. Therefore, any change in the structure or amount of type I collagen not only affects the bones, making them weaker and more brittle, but also affects heart and kidney function.

This contributes to a decreased quality of life for people with brittle bone disease, as people suffer from bone fractures, shorter stature, bowing of the bones and skeletal deformities, but also other pathologies that can include brittle teeth, bleeding and easy bruising, blue eye color, breathing problems that can be very serious in relation to malformation of the rib cage, extreme tiredness, hearing loss, skin pain, loose joints, muscle weakness, serious heart problems, and chronic kidney failure .

The quality of life of people with brittle bone disease

The quality of life of people with brittle bone disease is affected from an early age in relation to their health status. This includes the impact of multiple hospital admissions and severe pain on mental health, not only for affected children but for those who care for them. While some treatments are offered, there is currently no cure for the disease, which can increase low self-esteem and anxiety, depression, feelings of isolation, and fear of premature death.

Therefore, the mental health and well-being of people with osteogenesis imperfecta should be considered and support provided to help them and their families cope with the physical and emotional aspects of the disease. Therapies include how to develop skills to cope with the stress and anxiety inherent in living with lifelong chronic health problems.

The daily life of people with brittle bone disease

Life for people born with osteogenesis imperfecta is stressful as children, and later as adults, they deal with recurrent fractures, reduced mobility, fatigue, and general pain. The prospect of breaking a bone while sneezing certainly affects daily life. Several osteogenesis imperfecta foundations are raising awareness of its “unbreakable spirit,” but the social and emotional issues associated with the disease need to be addressed. For parents, the diagnosis of osteogenesis imperfecta for a fetus or infant creates immediate anxiety as well as challenges, such as locating doctors and other health care providers. Sometimes reports of child abuse are made before diagnosis, which also contributes to emotional distress for parents.

Therefore, strategies must be put in place to help parents cope with the stress of caring for a child with a lifelong medical condition, which will affect their daily lives. knowing that pain and fractures are almost inevitable. While caring for a newborn, parents must deal with additional fatigue, stress, and sadness, which can also affect their relationship.

Strategies include therapy to learn how to cope with medical emergencies, creating a strong support network that includes other family members, nurses, doctors, genetic counselors, and social workers. Parents sometimes also have osteogenesis imperfecta and may have coping strategies.

Siblings who are not affected by osteogenesis imperfecta may feel left out or jealous of the time their parents spend with the affected child, or they may experience anger, guilt, or worry. Therefore, family therapies can be implemented to address these feelings and help children understand the situation and feel calm.

Imperfect osteogenesis
Neridronic acid drug molecule. It is used for the treatment of osteogenesis imperfecta

What about children with osteogenesis imperfecta?

Because the disease begins to manifest before birth, infants and young children are already affected and may have suffered multiple fractures before they can speak. Parents and physicians must communicate in an age-appropriate manner and include the child in family activities and projects.

Later in life, the disease affects relationships and career choices. Living with a chronic condition can affect your mental health as well as your physical well-being. However, they are capable of developing close relationships and successful careers. To develop a healthy outlook on life, they need support to stay informed about conditions and research progress, learn to live an independent life, get a good education, prepare for a career. This requires a strong network of emotional, financial, and physical support.

Being a teenager with osteogenesis imperfecta

The teenage years are challenging for most of us. But a preteen or teen with osteogenesis imperfecta faces additional challenges that add to the emotional and physical toll of the disease. First, the skeleton is growing rapidly, which increases the risks of fractures and hospitalization, with the collateral effects of missing school and affecting social life. Since most adolescents may struggle with changes in physical appearance, self-esteem, and self-confidence, adolescents with osteogenesis imperfecta face the added burden of dentogenesis imperfecta (with brittle teeth), height problems, deformities , which can affect your social life just as they are. unable to participate in certain sports or social activities.

Children, adolescents, and adults with osteogenesis imperfecta, as well as their families and friends, depend on a strong network of emotional, financial, and physical support to meet these challenges in order to experience a meaningful life. While scientific research is focused on the development of new therapies to counteract bone fragility using Mother cells, exosomes and other medications, community awareness of osteogenesis imperfecta is critical to ensuring the best possible quality of life for people with osteogenesis imperfecta.

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© 2019. This work is licensed under a CC BY 4.0 license.

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