Jaipur, May, 2024.

Rare diseases in India have gained increased attention in recent years, shedding light on the challenges faced by patients and caregivers. India accounts for one-third of the global rare disease incidence, with over 450 identified diseases. Though our country lacks a standard definition for rare diseases, a rough estimate suggests that about 8 crore-10 crore Indians suffer from one rare disease or another; over 75% are children.

Spinal Muscular Atrophy (SMA) is one such rare disorder that impacts the motor neurons in the spinal cord. It is a genetic disorder and is one of the leading causes of infant mortality worldwide. The consequence of the disease is gradual muscle weakness and progressive loss of movement. SMA is a progressive condition that poses significant challenges, be it physical, emotional, social, or financial. Without timely diagnosis and intervention, most patients are unable to survive beyond their second birthday. In cases where they do survive, their quality of life is heavily impacted.

The severity of spinal muscular atrophy (SMA) can vary depending on the specific type, with Type I generally considered the most dangerous and severe form of the condition. Common symptoms include respiratory issues, such as weakened respiratory muscles and breathing difficulties. Swallowing difficulties may also arise, complicating feeding. Scoliosis, particularly prevalent in Type 1 SMA, can cause breathing challenges due to spinal curvature, limiting lung expansion. Reduced mobility may result in joint stiffness or displacement, notably affecting the hips. While sensory and cognitive symptoms can occur, cognitive function generally remains intact in most SMA cases.

Patients suffering from rare diseases such as SMA have either no access to treatment or are left with very limited options for cure. With thousands affected in India, raising awareness, providing support, and implementing effective strategies for early identification and intervention are crucial. Along with the various challenges faced by the patients, the family and the caregivers also experience several struggles and hardships which include emotional, physical, and financial strains and lifestyle adjustments.  Collaborative care has emerged as a cornerstone in the management of SMA, offering a holistic approach to addressing the complex needs of patients and their families.

Dr. Ashok Gupta, Director Institute of Rare Diseases, Mahatma Gandhi University of Medical science and Technology spoke about the importance of a collaborative approach for the management of SMA, and said that “SMA has a devastating effect on infants and their caregivers. SMA, especially Type 1 has a physical and emotional impact on patients and their families. Respiratory struggles and difficulties with muscle strength require immediate medical attention. The management of SMA also requires a multidisciplinary approach, which includes timely physiotherapy intervention, nutritional support, and respiratory management. Comprehensive and collaborative care effort among doctors, therapists and support groups are imperative to enhance the quality of life of the patients.” 

Dr. Priyanshu Mathur, State Nodal Officer for Rare Diseases, Associate Professor, Pediatric Medicine, SMS Medical College, Jaipur spoke about the importance of a comprehensive approach towards the management of rare diseases. He added that, “Nutritional support is integral to the management of SMA, serving both as a means to optimize growth and development and as a strategy to mitigate disease progression. Children with SMA face challenges related to feeding difficulties, poor weight gain, and compromised nutritional status due to muscle weakness and swallowing difficulties. Our approach involves individualized nutritional assessment and intervention, including specialized feeding techniques, and oral supplements. Regular discussions with pediatric gastroenterologists are essential in addressing feeding issues and ensuring adequate nutrition intake to support optimal growth and function in children with SMA."

The aim of multidisciplinary and comprehensive care for SMA patients, and as an extension to patients dealing with other rare diseases is to prolong the life of patients but also to enrich it. The combination of physical therapy, nutrition, and emotional support does not just treat symptoms; it provides the patients with dignity and care and works to significantly improve the quality of their everyday lives.