LUCKNOW: The practice of marrying within the community poses a higher risk of rare diseases among Indians. As per an estimate from the union ministry of health and family welfare, India could be home to over eight crore persons suffering from rare diseases - an umbrella term used to denote a spectrum of over 5000 diseases usually of genetic origin.

The list includes Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, lysosomal storage disorders (such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas) and certain forms of muscular dystrophies.

Alarmed over the situation, MOHFW is working on a national policy for rare diseases. Technical and inter-ministerial committees are already in place to evaluate the issue.

“The policy draft is under consideration and guidelines are being formulated to screen patients for treatment which is extremely expensive,” said Dr Seema Kapoor, faculty paediatrics, Maulana Azad Medical College here on Saturday during a rare diseases update organised by Uttar Pradesh government and Indian Society of Inborn Errors in Metabolism.

Excepts from the policy draft speaks for the higher risk of rare diseases in Indians. “The incidence of rare diseases is believed to be higher in India due to the practice of consanguineous marriages in many communities,” read a document on the issue.

Consanguine is a Latin word that denotes ‘from the same bloodline’. In this way, consanguineous marriages denote marriage between people who have descended from the same ancestor. “The practice has made India home to 56 million persons with single gene disorder (a genetic disorder caused by mutation in one gene),” the document read.

At present, exact pattern and prevalence of rare diseases in Indian population is not known but international estimates suggest that 6-8% of Indians suffer from the problem. Experts stress on prevention of the rare diseases for two reasons.

Firstly: around 80% of rare diseases are of genetic origin and hence they disproportionately impact children. In fact, over 50% of new cases in children are reported each year. The diseases are responsible for 35% of deaths before the age of 1 year, 10% between the ages of 1-5 years and 12% between 5-15 years. Secondly, there is no treatment available for a large number of these diseases. In cases, where treatment is available, the cost is exorbitant ranging from Rs 40 lakh to 1.60 crore per year.

“Even if someone had the money, such children don’t live for long which is an emotional trauma for the parents. Prevention on the other hand is simple and possible with the help of several diagnostic tests which may cost anything between Rs 10-30,000,” informed Prof Shubha Phadke, head of medical genetics department, Sanjay Gandhi Post Graduate Institute of Medical Sciences.

Citing an example, Manjit Singh, president of Lysosomal Storage Disorders (LSD) Support Society, stated, “LDS is one of the commonest rare diseases which can be averted through a simple test.”

What are rare diseases? A rare disease is a life threatening or chronically debilitating condition that affects a very small number of people in population. They are often chronic, progressive, degenerative and life threatening. At least 80% of rare diseases have an identified genetic origin and hence disproportionately impact children. Over 50% of new cases are in children and are responsible for 35% of deaths before the age of 1 year, 10% between the ages of 1 and 5 years and 12% between 5 and 15 years

Types: Around 7000 rare diseases have been identified across the world. Some 450 have been documented in India.

Prevention: Screening for genetic diseases before planning baby or at least during the first trimester of pregnancy.

