August 29, 2022: The world over, August is commemorated as Spinal Muscular Atrophy (SMA) awareness month. SMA, a progressive disease that robs affected people of their ability to walk, breathe and swallow is the leading cause of inherited death in babies. It has an incidence of around 1 in 6000.
Rare diseases like SMA are difficult to handle and live with. The advent of revolutionary newer therapies has changed the lives of many babies and families. But there is still a lot of struggles in accessing the specialized supportive care that goes with this condition. The medications that have spelt new hope are far too often, beyond the reach of most affected individuals and families. To make matters worse, specialist expertise is often scarce, making geographic distances that patients have to travel a major obstacle. This makes collaboration the only way of bringing some solace and improving the quality of life, for these children and young people.
This Sunday the 28th of August, over 15 experts have shared their experience on the various aspects of fighting SMA. On this occasion let us also hear from those who fight this disease, our SMA warriors. We the Paediatric Neuromuscular Team at Bangalore Baptist Hospital, a collaborative Rare disease centre established with the ORDI (Organisation for Rare Diseases India) invite you to share an open day with our experts and most importantly with the families whom we are privileged to accompany on their journey with SMA and the unique challenges it poses.
“Individuals affected by rare diseases far too often have a long journey towards diagnosis, many that last decades and a lot of them, where the diagnosis is never made even after the individual succumbs. This event is aimed at reducing this gap of delayed and incorrect diagnosis. Neuromuscular Disorders especially SMA has seen an explosion of newer drugs and therapies. But they need to reach affected families. Increased awareness of these conditions will help more families avail themselves of these treatments and empower them as well as hopefully, inspire future generations to answer these unanswered and unsolved problems that Individuals affected with rare diseases always face” says Dr. Ann Agnes Mathew, Head of Neuromuscular Services, Bangalore Baptist Hospital.
“SMA patients are fortunate to have 2 types of treatment whereas 95% of the Rare diseases do not have treatment. We have children who got access to the treatment under the free therapy program of the companies and are doing well. Unfortunately this treatment is not covered by the Govt under NPRD – National Policy for Rare Diseases and Govt suggested crowdfunding. How can we go for crowd funding and keep waiting. Its govt duty and must provide treatment to all rare diseases and save these bright children from progressive deuteration” says Mr.Prasanna Shirol- Co founder and Executive Director of Organization for Rare Disease India about the occasion.
ORDI is a national umbrella organization representing the collective voice of all patients with rare diseases in India, setup as a section 25 non-profit company in India with a vision “A Better Life for people with Rare Diseases” and ORDI’s mission is to be the strong united voice for all rare diseases in India, to reduce inequalities and ensure that people living with rare diseases have access to the same resources as any other population.
