Bengaluru: The Organization for Rare Diseases India (ORDI), in association with CureSMA Foundation of India; a parent-led charitable trust working for the welfare of children affected with SMA, conducted a workshop on the 15th of August 2019 in conjunction with the Paediatric Neuromuscular department at Bangalore Baptist Hospital, to raise awareness among Medical Practitioners, Parents and the General Public on treatment in Spinal Muscular Atrophy.
The objective was to create a knowledge-sharing platform, raise awareness and educate doctors and parents on the Standards of Care (SoC) followed the world over in order to improve the lives of affected children. More than 50 doctors from across the country, 22 plus speakers and around 100 patients with their family attended this workshop. Topics for discussion included an overview of SMA and its diagnostic pathway along with tips on anticipating and avoiding common expected complications in SMA by taking care of respiratory, swallowing difficulties bone and spine health problems in SMA. Each of the speakers involved shared their practical experiences in dealing with the unique issues that SMA diagnosed children faced.
Dr. Sudheendra Rao, a scientist and Research Advisor to the ORDI, talked about potential treatments that 
could become available for the affected patients, thus providing them with hope for future possibilities of cure. The workshop was concluded with a discussion of parents’ experiences with SMA by Mrs Moumita Ghosh, Co-founder, CureSMA Foundation of India. This was finally followed by an open house session with the experts, where the parents and families had opportunity to clear their doubts and questions.
SMA (Spinal Muscular Atrophy) is, an often lethal genetic disease in childhood that robs children of their physical strength by affecting the motor nerve cells in the spinal cord, taking away their ability to walk, eat or breathe. Spinal Muscular Atrophy (SMA) causes progressive muscle weakness and thus worsening loss of movement. It is caused by deterioration in the nerve cells (motor neurons) connecting the brain and spinal cord to the body’s muscles. As the link between the nerves and muscles breaks down, the muscles used for activities such as crawling, walking, sitting up, moving the head and even swallowing, become progressively weaker and shrink (atrophy).
There is an estimated three lakhs or more children and young adults suffering from this genetic disorder in India and the treatment is very expensive. There is cure in the form of gene therapy, an FDA approved therapy that costs 2 million USD. These children need a lot of care from various specialists, in order to sustain a productive life. Patients with SMA get comprehensive care in western countries and hence have very different outcomes and results even without the cure. But in India such a scenario is still in its early stage. Patients and families are unable to access requisite support and care and hence end up having shorter life span with poorer quality of life. Many children have so many deformities or are in so much pain that they are marginalized from society because they cannot move around and meet people easily.
Dr Ann Agnes Mathew who has been working for SMA kids, has been trying to make the expensive drugs to treat SMA available in India for past few years, said, “Spinal Muscular Atrophy is a fairly common genetic disease which causes gradual weakness and robs ones physical strength. It is insidious and so often goes unnoticed until affected children and people end up with life threatening complications.
