Defining rare diseases to create awareness. Create awareness among general public, patients & their families and doctors are necessary for improving the situation.
World Health Organisation defines rare disease as “devastating lifelong disease or disorder ailment with a prevalence of 1 or less, per 1000 population”. The pitch of rare diseases is intricate and dissimilar. The outlook of rare diseases is continuously shifting, as there are new rare diseases and disorders being recognised and stated frequently in medical literature.
For a long time, doctors and researchers were not aware of rare diseases. However, it is important to take short as well as long term measures, with the aim of confronting this problem in a holistic and ample manner.
Diagnosis of rare diseases is an experiment even for medical profession because of many factors and the main being less information about disease and its severity. Many doctors lack appropriate training and awareness to diagnose and treat these conditions on time. And there is also lack of adequate screening and diagnostic facilities. Apart from this there is lack of awareness about rare diseases in general public. Delay in diagnosis or wrong diagnosis is expensive, time – consuming and also makes the patients to suffer badly.
There is instantaneous requirement to build awareness among general public, patients & their families and doctors. Unfortunately clinical experiments and research on rare diseases are very difficult, as the number of patient are very few. The problems becomes even serious as rare diseases are incurable in nature. Effective treatment is not available for most of the rare diseases. Hence, treatment becomes difficult even when a correct diagnosis is made.
As per National policy for rare diseases 2020, Ministry of health and family welfare, government of India, “there are 7000 to 8000 rare diseases, but less than 5% have therapies available to treat them. About 95% rare diseases have no approved treatment and less than 1 in 10 patients receive disease specific treatment”.
Education and awareness can strengthen healthcare system in India. Preventive strategies like educating general public and health professionals at large is very important. Educating public especially in the preconception and even after disease identification is vital. Other preventive strategies should include:
- Counseling preventive measures among couples with a family history of rare disease.
- Screening the pregnant on time.
- Counselling pregnant and families about bringing up challenges of rare disease child.
- If possible counselling and educating public to avoid marriages between carriers of genetic qualities that might upshot the birth of child with rare diseases.
- Screening new-born babies within few days of birth before symptoms of the disease manifest and treatment is initiated which prevents morbidity and mortality.
- Post-natal diagnosis and treatment (before complications manifest) of disorders
- Provide best supportive care to the affected patients. This would improve quality of life of affected individuals and families.
- Providing emotional and psychological support to affected individuals and families.
Thus defining rare diseases to create awareness among public, training of doctors for better diagnosis, standardization of diagnostic modalities and development of newer diagnostic & therapeutic tools can improve the situation.
D A Kalpaja
Chairperson, Vydehi Institute of Medical Sciences & Research Centre
