Rare Disease Day takes place annually on the last day of February. This year’s theme is centred around the slogan 'With research, possibilities are limitless'. The campaign targets primarily the general public and also seeks to raise awareness among policy makers, public authorities, industry representatives, researchers and health professionals.
A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000 people. One rare disease may affect only a handful of patients while another may touch as many as 245,000. In the European Union, as many as 30 million people may be affected by one of over 6000 existing rare diseases.
It is estimated that 80% of rare diseases have identified genetic origins, and the remaining 20% develop as a result of bacterial or viral infections, allergies and environmental causes, or are degenerative and proliferative. Half of these defined rare diseases affect children.
Unfortunately, health professionals advise that ‘relatively common symptoms’ such as general aches and pains and cold like symptoms can sometimes hide underlying rare diseases, leading to misdiagnosis and delays in treatment. As a result, the condition can progress and affect a patient’s quality of life, for example because of lack or loss of autonomy due to the chronic, progressive, degenerative, and sometimes life-threatening aspects of the disease.
Although rare disease patients and their families face many challenges, enormous progress is being made every day through research. The ongoing implementation of a more comprehensive approach to rare diseases has led to the development of public health policies and awareness programmes. Important gains continue to be made through the increase in international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not just the most ‘recurrent’ ones. These advances have led to the development of new diagnostic and therapeutic procedures.
One of these defined rare diseases is ‘juvenile osteoporosis’.
Osteoporosis means ‘porous bone’. The disease is characterised by too little bone formation, excessive bone loss, or a combination of both. People with osteoporosis have an increased risk of fractures. It is most common in older people, especially older women. When it occurs in children and adolescents, it is usually caused by an underlying medical disorder or by medications used to treat the disorder. This is called secondary osteoporosis. Sometimes, however, there is no identifiable cause of osteoporosis in a child. This is known as idiopathic osteoporosis.
Secondary osteoporosis is by far the most common kind of juvenile osteoporosis. Some of the diseases and disorders that can lead to osteoporosis in children include:
Certain drugs and treatment may also lead to juvenile osteoporosis. These can include chemotherapy for cancer, anticonvulsant medicines for seizures, or steroids for arthritis. It is therefore important to monitor the child’s bone density, typically through bone density scans, if they are receiving this treatment.
No matter what causes it, juvenile osteoporosis can be a significant problem because it occurs during the child’s prime bone-building years. From birth through young adulthood, children steadily accumulate bone mass, which peaks sometime before the age of 30. The greater the peak bone mass, the lower the risk for osteoporosis later in life. After people reach their mid-thirties, bone mass typically begins to decline, very slowly at first but increasing in their fifties and sixties. Both hereditary factors and lifestyle choices, especially the amount of calcium in the diet and the level of physical activity, influence the development of peak bone mass and the rate at which bone is lost later in life. It is therefore important to diagnose, monitor and treat the condition as soon as possible.
As osteoporosis is an asymptomatic condition, management is centred on preventing fragility fractures, which are associated with enormous morbidity and mortality. Treatment for osteoporosis should include not only drug treatment but also advice on lifestyle, nutrition, exercise and measures to reduce falls.
Naomi Holland, an associate in the clinical negligence team at Penningtons Manches, comments: “Delayed diagnosis of osteoporosis, poor monitoring and inappropriate treatment can have far-reaching consequences. Even seemingly minor orthopaedic injuries can lead to long-term problems, while serious cases very often give rise to care needs and requirements for specialist equipment and adapted accommodation that will last for an individual's lifetime.
"If you or a family member have concerns regarding an orthopaedic condition or injury, please contact the specialist orthopaedic claims team at Penningtons Manches."