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

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Sept 10 – World Suicide Prevention Day. Suicide is intricate and tragic, but it is avoidable. What drives so many individuals to take their own lives.

Suicide is a major public health concern and one of the leading cause of death overall. Suicide is intentionally causing one’s own death. Whereas attempted suicide is an effort to take one’s life that does not end in death, rather self-injury. Suicidal behaviour is complex, and there is no single cause. In fact, the World Health Organization estimates that roughly 800 000 people die by suicide every year. Furthermore, for each suicide, there are more than 20 suicide attempts.

Suicidal feelings are common, and many people experience them when they are stressed or suffering from depression. In most instance, these feelings are temporary and can be treated, but risk arises when people literally attempt or complete suicide.

Generally, people try to materialize suicide idea when a person physiologically not able to cope with an overwhelming situation. Many different aspects contribute to person’s suicide attempt. The most common noticed risk factors for suicide are psychiatric disorders, genetics, abuse, family and social situations. Psychiatric disorders play an important role in the increased risk of suicide.

Usually people with suicide idea keep their thoughts and feelings secret and show no signs about it. Understanding the warning signs of suicide and getting timely help can save lives. But people most at risk tend to give some type of verbal or behavioural message about ideation of suicide like being restless or anxious, consuming drugs or more alcohol than usual, engaging in risky behaviour like careless driving, increased isolation, expressing regret about being alive, self-criticism and saying goodbye to others as if it were the last time.

A suicidal person may not ask for help, but definitely they are in need of support. Literally speaking people who take their lives don’t want to die—they just want to stop hurting. Family and friends are the people who can notice symptoms of suicidal ideation of the person through their speech or behaviour.

Suicide prevention and treatments depends on patient’s risk factors.  But can be successfully treated or managed with medications and counselling. The most common techniques is psychotherapy that is, talking to the person and giving appropriate support. Commitment, sensitivity, knowledge and concern for another human being, a faith that life is worth nurturing can help to prevent suicide. Apart from this, increased education and awareness to medical professionals might also aid in helping the patients to overcome suicidal thoughts.

Suicides are preventable – Effective preventive measures

• Restricting access to means of suicide
• Responsible media reporting
• Introducing alcohol policies
• School-based interventions
• Follow-up care and community support
• Training of health workers in early identification and treatment

D A Kalpaja
Chairperson, Vydehi Institute of Medical Sciences & Research Centre,
#82, Nallurahalli, Whitefield, Bangalore – 560 066
+91-80-49069000 Extn:1147/1366

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