Jaipur, October, 2023.

Spinal Muscular Atrophy (SMA), a rare genetic disorder that affects the motor neurons in the spinal cord, has emerged as a pressing concern in India, demanding immediate attention from healthcare authorities and policymakers. SMAposes severe challenges to patients, caregivers, and the healthcare system, and its economic burden cannot be ignored.

It is heartening to note that Delhi CM Arvind Kejriwal's recent support for a child with SMA has touched the hearts of many. The AAP government's commendable initiative to promote and support a crowdfunding drive, with a strong outpouring of support from the community, exemplifies the power of collective efforts in the fight against SMA.Last year in November, a large group of parents had also approached JK Lon Hospital in Jaipur requesting the government for support as they were unable to bear the high cost of treatment for SMA. The parents had submitted a memorandum addressed to CM Ashok Gehlot through the superintendent of JK Lon Hospital.

Children born with severe SMA type 1– the most common form of the condition – have a life expectancy of just two years. It leads to progressive muscle weakness and the loss of motor function, making even the simplest of movements an uphill task. Patients with SMA Type 1 endure a range of physical and emotional challenges. SMA can affect a child's ability to crawl, walk, sit up, and control head movements. Severe SMA can also damage the muscles used for breathing and swallowing.Simple daily tasks become formidable hurdles, and the constant need for care and attention places a substantial burden on caregivers. Families often face financial strain due to the cost of specialized care, medical equipment, and therapies required to manage SMA.

Dr Ashok Gupta, Professor of Pediatrics, Chief of the Rare Diseases Center, SMS Medical College, Jaipur, stated “With an estimated occurrence rate of 1 in 7,744 live-born babies and a carrier frequency of 1 in 38 individuals in India, SMA presents a significant healthcare challenge, underscoring the urgent need for early detection and intervention to enhance outcomes and the quality of life for affected individuals.Detecting SMA through screening programs enables the medical team to intervene before significant motor neuron loss occurs, potentially preventing severe disability. Newborn screening programs have emerged as a highly effective strategy for identifying infants with SMA shortly after birth. This involves a simple blood test that identifies specific genetic markers associated with SMA. Early detection facilitated by newborn screening equips healthcare professionals to initiate interventions at the earliest possible stage, thus optimizing the likelihood of successful disease management and improved outcomes.”

Discussions surrounding a rare disease policy in India have been ongoing since 2013. While there is now a National Policy for Rare Diseases (NPRD) in place, the actual implementation has been slow and inadequate. The earlier policy lacked clarity on cost-sharing, but the new policy has addressed this challenge by stating that in order to receive financial assistance for treatment of rare diseases, the patient may approach the nearest Centre of Excellence to get himassessed and avail the benefits.

Dr Priyanshu Mathur, Consultant Pediatric Rare and Metabolic Genetic Disorders, SMS Medical College, Jaipur,added, “After a child is diagnosed with SMA, registering a child at a center of excellence (COE) is highly important to access the full range of benefits offered by government schemes. COE specialize in SMA care, provide comprehensive medical expertise, specialized treatments, and a multidisciplinary approach to manage the condition effectively. By registering at such centers, families can benefit from tailored medical interventions, financial support, early intervention therapies, rehabilitation programs, and access to cutting-edge research. Additionally, these COEs provide families with a supportive community of medical experts, caregivers, and peers, fostering holistic care.”

It is important to note that rare diseases, such as SMA Type 1, are debilitating conditions that require immediate attention from policymakers in India. While progress has been made, there is an urgent need for clear policy implementation and support from both the government and the private sector to alleviate the physical, emotional, and financial burdens faced by SMA patients and their families.