“As compared to 90% of children in China who go through New Born Screening, the number is just 2%”in India, said IEM (inborn errors of metabolism)”, said , Dr. Seema Kapoor of Division of Genetics, Department of Pediatrics, LNJP hospital at a Panel Discussion held at AIIMS on Inborn Errors of metabolism (IEM).

Inborn Errors of metabolism (IEM) often referred to as congenital metabolic diseases or inherited metabolic disorders are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. In India the exact incidence is not known, Based on estimates in other countries ,3-4 babies out of  1000-sick newborns  suffer from IEMs , which if not diagnosed timely & treated adequately, may be life threatening.

Newborn screening (NBS) tests can identify some of these disorders. Metabolic physicians and registered dietitians and other health care providers can help to manage these babies optimally However, the Government of India is yet to have a national mandatory screening program for newborn babies for IEM disorders but some of  the state governments have initiated NBS for limited number of disorders,  The awareness is limited among the parents as well, moreover the tests are expensive in Pvt. Labs and the medicines are not readily available for treatment.

Division of Genetics, Department of Pediatrics, AIIMS, New Delhi ,  MERD INDIA Foundation, Jaipur & IEM Support Charitable Trust, Delhi, in collaboration with  Division of Genetics, Department of Pediatrics, MAMC , New Delhi organized a Panel Discussion at AIIMS on 15th December 2018 to mark the IEM day which is celebrated on Nov 21st.  Renowned Doctors, Government officials and Social Organizations took an active part with an objective to create awareness about Inborn errors of Metabolism (IEM) and planned to initiate together various steps required for prevention, early diagnosis as well as treatment  of these rare diseases.

The meeting was inaugurated by Professor V.K. Paul ( member NITI Ayog & Chairperson MCI)as chief guest  and Prof, IC Verma  ( Adviser Institute of Genetics & Genomics Sir Ganga Ram hospital )was the guest of honour. Mr. Naresh Kumar (NDMC Chairperson), Dr. Prabha Arora (, MOHFW), were special guests .

Prof. V. K. Paul  urged the community of Doctors and Social organizations to present a paper on IEM so that the Government can include in their coming health agenda. “The health budget has increased from current 1.3% to 2.5% of GDP in the coming year, there’s a lot of scope to reduce the burden of parents of IEM children”, he said. He also emphasized that government is committed to support this cause

Speaking at the occasion, Dr. I. C. Verma, also known as Father of genetics in India, emphasized on the need of duty free import of special diets for the IEM children.  As these diets are required life long  and are expensive and not within the reach of common man, Government should consider subsidizing these special diets.

He also stressed on the mandatory New Born screening (NBS) as in most of the cases, IEM  can be cured if diagnosed early. Also, brain damage can be avoided with early diagnosis.  There is also a need for more awareness on IEM among parents, he added.

For greater awareness on IEM, NDMC Chairperson Mr. Naresh Kumar offered the infrastructure of NDMC for regular meetings, awareness programs and discussions. “We have very good infrastructure which is being under utilized, only 40-50% resources are being utilized. We would like to offer our facilities for conducting various awareness programs for this purpose”, said Mr. Kumar.

Dr. Prabha Arora emphasized on the parent group network so that the parents of IEM children can share information and provide support to each other. She also elaborated on the steps being taken by the government in this direction.

The panel was moderated by Dr Neerja Gupta (Asst. Professor Division of Genetics, Department of Pediatrics, AIIMS, ND).  The Panelists  were  Dr. Madhulika Kabra (Professor, Division of Genetics, Department of Pediatrics, AIIMS, ND), Dr. Seema Kapoor (Director Professor) Division of Genetics, Department of Pediatrics, LNJP hospital, Dr Shaleen agarwal ( GI Surgeon, Max hospital) Dr Sunita Bijarnia Sir Ganga Ram hospital ,Mr. Vikas Bhatia – Founder of  MERD India Foundation &, Mr. Atul Khandelwal  Ms.Sarika Modi from  IEM Support Charitable Trust . The issues discussed in panel discussion were orientated primarily general awareness and  parents education and included importance of high index of suspicion, early manifestations, diagnosis, basic management , importance of follow up and curative treatment like  liver transplantation. All  experts gave emphasis on genetic counseling and  prevention  as these disorders are genetic and have a finite risk of recurrence in subsequent pregnancies.

 

“This initiative is being undertaken to ensure that every newborn has access to NBS, to establish and integrate a sustainable newborn screening within the public health care system and to ensure that all the health practitioners are aware of the advantages of NBS”, said Vikas Bhatia, Founder MERD India.

On the Occasion, Social Organizations like MERD India & IEM Support Charitable Trust unveiled the website being developed to create awareness about IEM and provide information and support to the parents. It is a much needed platform to connect Doctors, Dieticians, Parents & pharmaceutical companies across India to create awareness about the need for NBS. They also thanked FSSAI for speeding up the clearance process in establishing a unit to manufacture the special dietary food in India. The aim is to establish more manufacturing units, so that these special diet and medicines are easily available to the effected children.

Apart from the above FSSAI has also initiated “Diet4Life” to help people understand about metabolic disorders. It will provide a comprehensive platform to parents, Health Care professionals and parent support groups to adopt the right approach towards Inborn Errors of Metabolism (IEM) management. In India many babies suffer from life threatening conditions of IEM, and treatment of these metabolic disorders require early nutritional and dietary intervention. In view of the seriousness of the issue, FSSAI initiated a unique platform for parents to find timely medical support and treatment. FSSAI had entered into partnership with professional organizations, healthcare professionals and corporate to address the challenges that plagues a small section of our society.  http://diet4life.fssai.gov.in