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Wednesday, January 20th, 2021

Rare diseases by their very nature are rare

INVC NEWS Bangalore,

Bangalore Baptist Hospital in association with ORDI – Organization For Rare Diseases, India, today inaugurated India’s very first Paediatric Neuromuscular Service, simply called “The Muscle and Nerve Clinic”. This specialty service has a range of specialists who have come together to provide care for patients who suffer from these rare diseases that affects the muscle and nerves, thus causing weakness.
This service was set up with the goal of providing holistic and multidisciplinary care and treatment under one roof, for children and families with these rare group of disorders, who often need support from multiple experts in various specialities. In other words, the aim is to do away with the typical phenomenon that families with rare diseases end up going through, that of having to run from pillar to post, in their quest for appropriate solutions. Rare diseases, by their very nature mean that they are often under diagnosed and end up with potentially preventable complications. The clinic aims to provide timely, accurate and targeted diagnosis and treatment for patients suffering from these conditions, by following a protocol based approach built on international standards of care, thus improving the life span and quality of life of these children, while providing hope to their care givers and parents.Some of the conditions treated here include: Duchenne Muscular dystrophy, Spinal Muscular Atrophy, Congenital Myopathies, Congenital Neuropathies, Congenital and Acquired Myasthenias and Limb Girdle Muscular Dystrophy among others. The clinic will be open on Thursdays of every week, in the second half of the day. Dr. Naveen Thomas, Director, Bangalore Baptist Hospital and Mr. Prasanna Shirol, Founder, ORDI launched the clinic with a lamp lighting ceremony that was followed by an open house discussion between experts in Genetics, Researchers, Innovators, Neuromuscular Specialists, Paediatric Neurologists, physiotherapists and dietician who interacted with parents and Parent Support Groups such as ORDI, FSMA and DART among others. Speaking at the event Dr. Ann Agnes Mathew, Paediatric Neurologist and neuromuscular specialist said, “Rare diseases by their very nature are rare, but when put together they form a significant number of diseases with affected children. We live in exciting times, where many of these diseases may very well have a cure one day soon. But until such time, we owe it to our children, who are affected by these conditions, to provide them with a better quality of life, ensuring that they have access to the same standard of care which their western counterparts have, using available resources efficiently and sustainably.” Dr. Meenakshi Bhat, the clinical geneticist who pioneered the cause of rare diseases by developing affordable diagnostics for rare diseases at Centre for Human Genetics and made therapies available for the same, such as the life saving ERT (Enzyme replacement therapy) that is available to children from Karnataka at the state run Indira Gandhi Institute of Child Health, emphasised on the importance of an accurate genetic diagnosis in neuromuscular disorders as the key for providing specific treatments to affected children. Commenting at the launch, Prasanna Shirol said, “In my own journey as the father of a daughter suffering from a rare disease, it was made very apparent to me that people suffering from rare diseases have very few centres to go to, for appropriate help and treatment. Most people suffering from Neuro-muscular diseases must make do with regular physio therapists who are not equipped to deal with special cases. There is no way then, to gauge the effectiveness of treatment provided and sometimes there is no sensitivity towards what constitutes appropriate care, with the result that treatments provided are in excess of what is required. With this clinic we hope to alleviate the plight of families and young people going through these circumstances.” Dr. Sujatha Jagadeesh a clinical geneticist, who heads the department for prenatal testing at Mediscan Chennai, a pioneering tertiary centre for the same, who also established ERT in the state of Tamilnadu along with the first support group for a rare disorder called MPS (Mucopolysaccharidosis) addressed the very distressing possibility of such devastating illnesses recurring within families by saying “The importance of prenatal testing is that it ensures the genetic health of future generations, thus preventing immense pain for these families who have already suffered a lot.” The open house discussion included updates in advances in the treatment of Neuro Muscular Diseases, while improving and maintaining health and quality of life in the same, with a Multi-Disciplinary Team approach. One of the main goals of the meet was promoting collaboration between parents and experts to improve advocacy and lobbying. Maintaining International standards of care and protocols in the management of neuro muscular disorders were also discussed along with sharing of success stories among rare disease patients. The event came to a close with a spirited musical rendition by the Band of Inspiration, a band comprised of children suffering from one of these rare diseases, Duchenne Muscular Dystrophy.



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