- The National Policy for Rare Diseases (NPRD) by the government is a step in the right direction
- By identifying carriers early on through antenatal or prenatal screening, we can implement necessary interventions and provide adequate support to families: Professor Sheffali Gulati, Head Child Neurology Division, Department of Pediatrics, AlIMS
- Early intervention and timely treatment are crucial in shaping the prognosis and outcomes for individuals with SMA: Dr Sujatha Jagadeesh, Head Department of Clinical Genetics, Mediscan Chennai, Director – Centre of Excellence for Rare Disorders VHS Adyar
NE HEALTH BUREAU
CHENNAI, OCT 10
Eminent experts in the state have put an impetus on the need to highlight the significance of adopting preventive strategies to tackle SMA and its impact on families. Spinal Muscular Atrophy (SMA) is a genetic condition characterized by the loss of motor neurons, leading to progressive muscle weakness and, in severe cases, life-threatening complications. To address the condition effectively, it is crucial to focus on preventive measures that can help identify carriers and affected infants in a timely manner.
To address the urgent need for the adoption of preventive strategies, it is crucial to raise awareness among healthcare professionals, expectant parents, and the general public. The National Policy for Rare Diseases (NPRD) by the government is a step in the right direction. It calls out newborn screening as a prime illustration of secondary prevention, as it involves the screening of infants shortly after birth, before the onset of disease symptoms. By identifying potential health issues early on, prompt treatment can be initiated, thereby effectively preventing both morbidity and mortality.
Moreover, the Department of Biotechnology (DBT) has launched the UMMID Initiative, built on the principle of ‘Prevention is better than Cure’, with an aim to establish NIDAN Kendras in Government Hospitals to offer counselling, prenatal testing and diagnosis, management, and comprehensive multidisciplinary care; develop a cadre of skilled clinicians specializing in Human Genetics to meet the growing demand for genetic healthcare services; and conduct screening programs for pregnant women and newborn babies to identify inherited genetic diseases in hospitals located in aspirational districts.
Professor Sheffali Gulati, Head Child Neurology Division, Department of Pediatrics, AlIMS, emphasizes: “Screening is an invaluable tool for identifying SMA risk. These preventive tools empower prospective parents to understand their carrier status and make informed decisions about family planning. By identifying carriers early on through antenatal or prenatal screening, we can implement necessary interventions and provide adequate support to families. Once it is determined that both parents are carriers of the SMN gene, it becomes important to get a newborn screening test done.”
Antenatal screening is an essential preventive strategy that allows prospective parents to determine their carrier status. By testing both parents, it becomes possible to identify if they carry the genetic mutation associated with SMA. If both parents are found to be carriers, the emphasis shifts to prenatal screening, enabling families to make informed decisions and access appropriate medical care and support.
Dr Sujatha Jagadeesh, Head Department of Clinical Genetics, Mediscan Chennai, Director – Centre of Excellence for Rare Disorders VHS Adyar emphasizes: “Early intervention and timely treatment are crucial in shaping the prognosis and outcomes for individuals with SMA. Initiating therapy within the first weeks or months of life can help preserve motor function, enhance respiratory support, and potentially improve long-term outcomes. Also, genetic confirmation is needed for treatment, planning next pregnancy and testing in pregnancy. Additionally, adequate utilisation of a multidisciplinary approach by coordinating supportive treatments such as physical therapy, respiratory support, and nutritional management plays a crucial role in optimizing the quality of life for individuals with SMA.”
Therefore, via a multidisciplinary approach, emphasis should be put on early diagnosis which can enable timely treatment interventions that helps patients to live enhanced quality lives.
