Six-year-old Brithi, who was born premature weighing 2.2 kg, did not cry at birth. While her parents Laxman K.R. and Sushmita got worried when doctors told them she had to be admitted in the neonatal ICU for a week, little did they realise that she would be diagnosed with a rare disease.
Brithi was diagnosed with Prader-Willi Syndrome (PWS) at the age of two-and-a-half at the State-run Indira Gandhi Institute of Child Health (IGICH).
She is the 100th patient with a rare disease to be enrolled at the Centre for Human Genetics (CHG) and IGICH, which is the Centre of Excellence for Rare Diseases (COERD) in Karnataka. These 100 beneficiaries till August 2023 are being provided treatment under the Centre’s National Policy for Rare Diseases 2021 (NPRD 21). This is the first COERD among the 11 such centres in the country to achieve this landmark since the announcement of NPRD 21.
Under the policy, treatable rare diseases have been broadly categorised into three groups. A one-time financial assistance of up to ₹50 lakh has become available for the treatment of eligible patients. Among the 100 beneficiaries nearly 35% belong to Group 3 (diseases that have approved therapy) and 65% to Group 2 (diseases that can be managed with dietary supplements) of NPRD. Around ₹9 crore has been utilised to provide treatment for these 100 beneficiaries during this year.
Genetic disorder
Sanjeeva G.N., professor of Pediatrics at IGICH and COERD nodal officer said PWS is a genetic disorder that causes obesity, intellectual disability, and shortness in height. The most common symptoms are behavioural problems, intellectual disability, and short stature. Hormonal symptoms include delayed puberty and hyperphagia (constant hunger) leading to obesity. Affected children tend to develop sleep apnea and Type 2 diabetes due to obesity later in life, he said.
Post evaluation, the toddler was found to have moderate obstructive sleep apnea, which had to be monitored for two months before starting growth hormone therapy. Her parents arranged funds for the hormone purchase through crowdfunding, which is now being funded through the Centre’s NPRD, he said.
Rare diseases
Rare diseases are a group of disorders of nearly 7,000 different disorders, most of which are caused by genetic alterations and the majority of the affected are children. Only a few of these diseases have a specific treatment. The treatment for most of these diseases are long-term, expensive, and require careful monitoring by specialists.
Lauding the COERD at IGICH for achieving this milestone, L. Swasticharan, Union Additional Deputy Director General and Director Emergency Medical Relief, the NRDP, the Centres of Excellence across the country and the crowdfunding portal developed by the Union Ministry of Health and Family Welfare has helped in the enrolment of eligible patients with rare diseases.
Meenakshi Bhat, Associate Director at the Centre of Human Genetics, spoke about the importance of early diagnosis and appropriate treatment for these disorders. Genetic testing to reach a diagnosis is being done at CHG and is offered free to all patients at IGICH since the last 15 years. She also highlighted that Karnataka was the first State to initiate treatment of rare diseases in 2016.
IGICH director Sanjay K.S. reiterated the commitment of the institute towards the families with rare diseases. Acknowledging the support provided by the Karnataka government, Dr. Sanjay emphasised the need for affordable, accessible, and effective treatment for these patients. In last one-and-a-half decade, nearly 40,000 families have been diagnosed and counselled at the institute, he added.
