Generic drugs can bring hope for SMA patients'

Dr Ann Agnes Mathew, a consultant paediatric neurologist and neuromuscular specialist based in Bengaluru, treats nearly 600 SMA patients from across India. In an interview with DH's Udbhavi Balakrishna, she highlighted the challenges in diagnosing SMA and shared her views on the expensive treatment of the disease.

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Time of India

30 minutes ago

• Time of India

Fatehabad constable's infant son battles rare genetic disorder, cops across 6 dists mobilise to raise funds

Hisar: Eight-month-old Yuvansh, the son of Fatehabad police's cyber cell constable Rajesh, is battling Spinal Muscular Atrophy Type-1 (SMA), one of the rarest and most severe genetic disorders affecting infants. His survival depends on a life-saving injection costing Rs 14.5 crore, which must be procured from Switzerland. In a show of solidarity, police departments across six districts have joined hands to help raise the required amount. Rohtak additional director general of police Y Puran Kumar has written to the superintendents of police (SPs) in Rohtak, Bhiwani, and Charkhi Dadri urging officers to donate one day's salary for the cause. SPs of Kaithal (Aastha Modi) and Sirsa (Mayank Gupta) have also issued similar appeals. Policemen in Fatehabad are contributing at the local level as well. It is estimated that if officers across these districts contribute one day's salary, it could generate a significant portion of the funds required. Constable Rajesh and his wife Kiran, a clerk in the food supply department, are receiving support not only from the police but also from employees of her department. by Taboola by Taboola Sponsored Links Sponsored Links Promoted Links Promoted Links You May Like 5 Books Warren Buffett Wants You to Read In 2025 Blinkist: Warren Buffett's Reading List Undo Public awareness campaigns and fundraising efforts have also gained traction on social media platforms. So far, around Rs 38 lakh has been collected through donations. Adampur MLA Chandraprakash has written to Haryana chief minister Nayab Singh Saini seeking financial aid for Yuvansh's treatment. Constable Rajesh has also met Hisar ADGP K K Rao in his appeal for assistance. Yuvansh was born on April 9, 2024. His parents noticed that by the time he was two months old, he was not showing normal physical development. After consulting multiple doctors and undergoing various tests, the family received confirmation of SMA on May 18, 2025. The condition was further reviewed by doctors at PGI Chandigarh, who advised urgent administration of the Zolgensma gene therapy injection — considered one of the most expensive drugs in the world. Doctors emphasised that the injection must be administered before the age of two for the best possible outcome, followed by continued treatment for at least two to three months. In a desperate appeal, constable Rajesh has reached out to several prominent personalities and institutions for help. His pleas have been directed at Prime Minister Narendra Modi, CM Nayab Saini, actors Salman Khan and Sonu Sood, transport minister Anil Vij, MP Naveen Jindal, the Tata Foundation, industrialist Gautam Adani, and the Union health ministry. The campaign to save baby Yuvansh continues to gain momentum as citizens, officials, and well-wishers across the state rally in support. MSID:: 121993767 413 |

Time of India

4 hours ago

• Time of India

Karauli couple turns to crowd funding for son's 16cr treatment

Jaipur: The life of 20-month-old Kartik hangs in balance. Diagnosed with spinal muscular atrophy (SMA), a rare and life-threatening neuromuscular disease, he needs a one-time gene therapy injection (Zolgensma), which costs Rs 16 crore. With each passing day, Kartik's condition is deteriorating, weakening his muscles, making basic physical movements impossible. A resident of Baldevpura in Karauli district, Kartik's father Ravi Meena is struggling to tie up funds needed for the treatment, which is crucial before Kartik turns two. Dr Priyanshu Mathur of JK Lon Hospital, where Kartik was diagnosed, emphasized the urgency of the

The Hindu

2 days ago

• The Hindu

Newborn being treated for spinal muscular atrophy before symptoms set in

In perhaps a first in the country, a newborn found carrying the SMN1 gene mutation for Spinal Muscular Atrophy (SMA) through prenatal genetic screening is being administered presymptomatic treatment for SMA at the SAT Hospital here, thus minimising the infant's potential for future neuron damage. The infant, who is hardly three weeks old, is being administered presymptomatic treatment using Risdiplam, one of the rare disease-modifying drugs currently available for SMA, so that the infant will get the benefit of early initiation of treatment. This is a rare and very crucial step forward for the State in the management of rare diseases. SMA refers to a group of hereditary diseases that affect motor neurons, which are the specialised nerve cells in the brain and spinal cord that control movement of the body as well as skeletal muscle activity. The disease is currently not curable, even though several treatments have been developed for SMA that preserve motor neurons and improve muscle function to extend lives. In SMA, treatment early in life tends to provide more benefits. However, early diagnosis is fraught with many challenges. Most cases of SMA occur when the affected gene is passed down from the individual's parents. In this case, the mother is an SMA patient and through pre-natal diagnostic tests, it had been detected that the foetus was carrying the gene mutation associated with SMA. Though termination of pregnancy was an option, the woman chose to have the baby. Used in the West 'We do not normally get to diagnose SMA early before symptoms set in. Here, because of prenatal screening, we got a chance for early intervention and we thought we will try presymptomatic treatment, a protocol that is now being used in the West with very positive results,' V.H. Shanker, who heads the Genetics Centre at SAT Hospital said. The therapeutic time-window to treat SMA is narrow and early treatment, before the symptoms set in, improves motor function and outcomes. Early initiation of treatment with Risdiplam minimises motor neuron damage and maximises the potential for motor development, according to medical literature. Expensive drug 'SMA has no cure and presymptomatic treatment offers no guarantee that the child will not later develop the disease. However, the timing of the treatment is crucial and we hope that the infant will get the benefit of early treatment and that neuron damage can be minimised or prevented,' Dr. Shanker said. Health Minister Veena George said this was a rare opportunity for the State to potentially save at least one child from the debilitating disease. The State government is already giving Risdiplam, which is prohibitively expensive, to some 100 SMA patients for free, under its KARE (Kerala Against Rare Diseases), the State's initiative to devise a comprehensive care strategy to prevent and manage rare diseases.