NOIDA: At a nationwide workshop for paediatricians in the Postgraduate Institute of Child Health On Sunday, doctors agreed to create a network of pediatricians at various medical colleges across UP to help identify rare diseases in children.
Doctors said India is reporting 450 rare diseases out of 7,000. The lack of adequate resources for the diagnosis, treatment and management of rare diseases means that a great deal of time is lost before a patient can be treated. Rare diseases have a burden of one case in a population of 1,000.
dr NC Prajapati, Associate Director, Medical Education, Uttar Pradesh, said: “There is an urgent need to raise awareness among pediatricians across the state to identify rare disease patients and match them with the right treatment. Because testing for rare diseases is not available in all centers and treatment is expensive, diseases are not reported in a timely manner, resulting in lifelong suffering for patients.”
DR Nita Radhakrishnan, the PGICH chief of the Department of Hematology and Oncology, said: “Hemophilia has a burden rate of one patient per 10,000 population. Due to a lack of tests, only two or three patients are recognized. Only one reported for treatment. A virtual network of pediatricians at medical schools in different districts could connect to centers like SGPGI in Lucknow or PGICH in Noida for advice.”
It was agreed that after an awareness program for paediatricians, some of the shortlisted centers would stay in touch virtually for better patient care. The doctors also emphasized mandatory tests for pregnant women, which detect the likelihood of a rare or genetic disease before birth.
Doctors also discussed a 2020 Department of Health and Family Welfare policy on rare diseases pending implementation.
According to the policy and a relevant document available on the ministry’s website, early detection of rare diseases is a challenge in the country due to several factors such as: B. Lack of awareness among GPs and adequate screening and diagnostic facilities.
The document also highlighted the limitations related to the availability of treatments. It is said that there are 7,000 to 8,000 rare diseases, but less than 5% have therapies available to treat them.
At least 95% of rare diseases have no approved treatment and only 1 in 10 patients receive disease-specific treatment. Where drugs are available, they are prohibitively expensive and drain resources immensely.
In India, the most commonly reported diseases are hemophilia, thalassemia, sickle cell anemia and primary immunodeficiency in children, autoimmune diseases, lysosomal storage diseases such as Pompe disease, deer jump Gaucher disease, cystic fibrosis, hemangiomas and certain forms of muscular dystrophy.
Doctors said India is reporting 450 rare diseases out of 7,000. The lack of adequate resources for the diagnosis, treatment and management of rare diseases means that a great deal of time is lost before a patient can be treated. Rare diseases have a burden of one case in a population of 1,000.
dr NC Prajapati, Associate Director, Medical Education, Uttar Pradesh, said: “There is an urgent need to raise awareness among pediatricians across the state to identify rare disease patients and match them with the right treatment. Because testing for rare diseases is not available in all centers and treatment is expensive, diseases are not reported in a timely manner, resulting in lifelong suffering for patients.”
DR Nita Radhakrishnan, the PGICH chief of the Department of Hematology and Oncology, said: “Hemophilia has a burden rate of one patient per 10,000 population. Due to a lack of tests, only two or three patients are recognized. Only one reported for treatment. A virtual network of pediatricians at medical schools in different districts could connect to centers like SGPGI in Lucknow or PGICH in Noida for advice.”
It was agreed that after an awareness program for paediatricians, some of the shortlisted centers would stay in touch virtually for better patient care. The doctors also emphasized mandatory tests for pregnant women, which detect the likelihood of a rare or genetic disease before birth.
Doctors also discussed a 2020 Department of Health and Family Welfare policy on rare diseases pending implementation.
According to the policy and a relevant document available on the ministry’s website, early detection of rare diseases is a challenge in the country due to several factors such as: B. Lack of awareness among GPs and adequate screening and diagnostic facilities.
The document also highlighted the limitations related to the availability of treatments. It is said that there are 7,000 to 8,000 rare diseases, but less than 5% have therapies available to treat them.
At least 95% of rare diseases have no approved treatment and only 1 in 10 patients receive disease-specific treatment. Where drugs are available, they are prohibitively expensive and drain resources immensely.
In India, the most commonly reported diseases are hemophilia, thalassemia, sickle cell anemia and primary immunodeficiency in children, autoimmune diseases, lysosomal storage diseases such as Pompe disease, deer jump Gaucher disease, cystic fibrosis, hemangiomas and certain forms of muscular dystrophy.
