Nigerians with brittle bone disease can live healthy, productive lives – Orthopaedic Surgeons

Nigerians with brittle bone disease can live healthy, productive lives – Orthopaedic Surgeons

Orthopedic and general surgeons say brittle bone disease, medically referred to as Osteogenesis Imperfecta, is a genetically inherited bone disorder present at birth.

The specialists said that a child born with Osteogenesis imperfecta may have soft bones that break easily and bones that are not formed normally among other complications.

They noted that some of the babies born with this condition may have multiple broken bones even before they were born and that some of them may also not survive childhood.

According to the National Organisation for Rare Disorders, brittle bone disorder is a rare disease affecting the connective tissue of the body, characterised by extremely fragile bones that fracture easily.

The body said that the abnormal growth of bones is often referred to as bone dysplasia, stating that the specific symptoms and physical findings associated with OI vary from person to person.

“The severity of OI also varies greatly, even among individuals in the same family. OI may be a mild disorder or result in severe complications,” NORD added.

An Orthopaedic Surgeon at the Abia State University Teaching Hospital, Aba, Abia State, Dr. Isaiah Abali, said that children born with severe cases of OI may not survive childhood due to breathing complications.

He said children with osteogenesis imperfecta are at high risk of bone fragility and susceptibility to fractures after a minimal trauma. He said that those with mild OI, who survived childhood, may not play football or embark on rigorous exercises to avoid fractures.

Dr. Abali, who is also the Chairman, Nigerian Medical Association, Abia State chapter, said the treatment of the condition in adulthood is surgery, where rods (iron) will be inserted in the patient’s leg to support the bones and prevent them from breaking.

He noted that walking is also a risk for the adults with mild brittle bone disease as they could sustain fracture of the bones in the process without any cause.

Shedding more light on the condition, he said the condition also affects the teeth since the teeth sit on the bone, saying that the teeth will be in disarray as a result of the disease.

“It can also affect the eyes and change the colouration of the body pigment,” he said.

Clearing the air of misconception about the condition, the NMA boss said that the disease has nothing to do with evil spirits as many people are apt to believe, saying that it is purely medical.

“You can’t predict what will happen with their bones. Sometimes, an adult of 25 years old with mild OI may not know he or she has it until something happens.

“It is a genetic disorder that can be detected through a laboratory test. The disease can skip one generation and affect another. I may not have it but my children will have it and there is no known cause for it other than genetics,” he added.

A Consultant Surgeon at the Epe General Hospital, Epe, Lagos, Dr. Cynthia Okafor said that certain parents are carriers for the gene that causes OI, but may not know.

She said being a carrier means that one doesn’t have the disease but can pass it down to his or her child, saying that babies born with OI have a problem with making connective tissue due to a lack of type I collagen.

“Collagen is mostly found in bones, ligaments and teeth. Collagen helps to keep the bones. The World Health Organisation grouped osteogenesis imperfecta as a rare disease disorder,” she said.

The condition can be mild, with only a few fractures during a person’s lifetime, but can also involve hundreds of fractures that occur without any apparent cause in some severe cases, she said.

“Treatments include bone-strengthening medication, physiotherapy and orthopaedic surgery,” she added.

According to the WHO, a rare disease disorder is often a debilitating lifelong medical condition with a specific pattern of clinical signs, symptoms, and findings that affect fewer than or equal to 1 in 1, 000 persons living in any WHO-defined region of the world.

It noted that different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources.

Data from the WHO revealed that about an estimated 400 to 475 million people live with a rare disease disorder and the majority of them will never be diagnosed.

It noted that rare diseases are increasingly seen as an area of action by the WHO, and addressing the needs of the community of persons living with a rare disease recognised as an important step towards achieving greater health for all and the transformative goal to ‘leave no-one behind’ expressed in the United Nations Sustainable Development Goals 2030.

On the treatment, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, said that OI can be treated by a healthcare team of several doctors and healthcare providers including primary care physicians, who diagnose and treat adults.

Others are pediatricians, who diagnose and treat children; clinical geneticists, who diagnose and treat children and adults with genetic disorders; endocrinologists, who specialise in treating bone disorders and orthopaedists, who treat and perform surgery for bone and joint diseases.

The Institute included occupational therapists, who teach how to safely perform activities of daily living in the list; physical therapists, who teach ways to build muscle strength, recover from broken bones, and prevent broken bones; and dental providers such as orthodontists and oral-maxillofacial surgeons.

Earlier, the founder and President of the Osteogenesis Imperfecta Foundation Nigeria, Tarela Aghanti, said severity of this condition varies among affected people, saying that multiple fractures become imminent while milder cases may involve only a few fractures over a person’s lifetime.

“At this moment, there is no cure for this rare condition but can only be maintained by bisphosphonate medications, corrective surgeries, love, and care. Over the years, there has been no support for sufferers and their families.

“Sufferers from this rare condition have been left to languish in pain, anxiety, trauma and death. Awareness in Nigeria is well needed to help disabuse the minds of people that this condition is associated with witchcraft and evil spirit.”