Policies for management of rare diseases and their treatment a must in India

New Delhi, 17 July 2018: As per a new study, children with spinal muscular atrophy (SMA) can achieve improvements in motor function after six months of treatment with the drug Nusinersen, particularly if treatment began before seven months of age. Early diagnosis and initiation of treatment are fundamental for patients with infantile-onset spinal muscular atrophy highlighting the importance of the implementation of a newborn screening.

SMA is a genetic disease that affects motor neurons in the spinal cord, resulting in muscle atrophy and widespread weakness that eventually impairs swallowing and breathing. The incidence of SMA is between 1 in 6000 to 1 in 10,000 live births with a carrier frequency of 1 in 50 all over the world.

Speaking about this, Padma Shri Awardee, Dr K K Aggarwal, President, HCFI, said, “SMA can be categorized into four types depending on the age of onset, mode of inheritance, distribution of muscle weakness and progression of symptoms. In India, there are families whose children are suffering from this progressive disease. Due to SMA, children cannot walk, and, the nightmare does not end here as it is a progressive degenerative disease which means the kids may potentially see deterioration in function of their other limbs – hands, spines and even lungs. The drug Nusinersen has not yet been launched in India. However, even to be made available, the estimated cost is more than $100,000 per year. No health insurance company in India covers such disease or costs. It is imperative that the health ministry allocates a separate budget for rare drugs and treatment of rare diseases.”

In all its forms, the primary feature of SMA is muscle weakness, accompanied by atrophy of muscle. This is the result of denervation, or loss of the signal to contract, that is transmitted from the spinal cord.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “There is no cure for SMA. However, assistive technology such as ventilators, power wheelchairs, and modified access to computers is helping individuals with this condition to live longer, be more active, and participate in the community. What is of utmost significance for those with SMA is ventilation. The severity of the individual’s weakness directly affects the course of the disease.”

Some tips from HCFI

• Exercises and stretches can help maintain strength and stop joints becoming stiff in children with SMA. Although the amount of exercise will depend on the condition, it’s best to try and stay as active as possible.
• There are activities/exercises that can be done to strengthen the breathing muscles and make coughing easier.
• It is important for people with SMA, especially children, to get the right nutrients. This will help with healthy growth and development. A dietitian can offer advice about feeding and diet.