How Gene Therapy Changed the Life of a Child with Spinal Muscular Atrophy

For most parents, watching their child lift their head, sit up or say their first words is a joyful
milestone. But for families of children with Spinal Muscular Atrophy (SMA) Type 1, these simple
moments can become enormous challenges.

SMA Type 1 is a rare inherited genetic disorder that progressively weakens the muscles needed for
movement, swallowing and breathing. Until recently, treatment focused mainly on supportive care.
Today, advances in gene therapy are changing the outlook for children diagnosed with this condition.

One such success story is that of Baby VS When Development Didn't Go as Planned

Born after a healthy pregnancy and delivery, Baby VS appeared well during her early months. However, by the age of three months, her parents noticed that she was not reaching expected developmental milestones.

 
She had, poor head control, a weak cry, generalised muscle weakness, reduced movement for her age, 
further evaluation and specialised genetic testing confirmed the diagnosis of Spinal Muscular
Atrophy (SMA) Type 1, caused by the absence of a functioning SMN1 gene, which is essential for healthy muscle function.

How to Manage a Progressive Condition: 

As the disease progressed, Baby VS required comprehensive multidisciplinary care.
Her treatment included, regular physiotherapy, nutritional rehabilitation, respiratory support.
Despite these measures, she experienced repeated hospital admissions due to chest infections and
pneumonia caused by weakened breathing muscles.

How to improve her quality of life:

BiPAP Support was started during the night to assist her breathing. A gastrostomy feeding tube was placed to ensure adequate nutrition and reduce the risk of aspiration. Although supportive care helped manage complications, it could not stop the progression of the disease.

A Life-Changing Opportunity

Onasemnogene Abeparvovec (Zolgensma)— A one-time gene replacement therapy. Unlike conventional treatments, gene therapy addresses the root cause of SMA by delivering a functional copy of the missing SMN1 gene, helping the body produce the protein needed for healthy motor nerve cells.

She received the treatment on 19 December 2025 under the supervision of a multidisciplinary team.
Before therapy, her motor abilities were assessed using the Hammersmith Infant Neurological
Examination (HINE-2). Her score was 9, reflecting severe motor impairment.

Following the infusion, she was closely monitored and received corticosteroid treatment as per
standard protocols. Encouragingly, she experienced no significant treatment-related complications.

Steady Progress After Gene Therapy :

Gene therapy is not an instant cure, but it offers children the opportunity to achieve meaningful improvements over time. Combined with continued physiotherapy and rehabilitation, Baby VS gradually began showing encouraging progress.

Improvements seen during follow-up included:

• Better weight gain and improved nutritional status
• Stronger and louder voice
• Ability to lift both hands above shoulder level
• Improved head control
• Ability to sit with minimal support
• Greater interaction and activity during daily life       
   

Three months after treatment, her HINE-2 score improved from 9 to 12, demonstrating measurable
gains in motor function.

Now, nearly five months after receiving gene therapy, she continues to make steady progress
without any significant late side effects.

A New Era of Hope

SMA Type 1 remains a serious condition, but advances in gene therapy are transforming its future.
Early diagnosis and timely intervention remain the key to achieving the best possible outcomes.
Even children who have already developed symptoms can experience meaningful improvements
when advanced therapies are combined with expert multidisciplinary care.

Baby VS journey is a powerful reminder that modern medicine is creating new possibilities for
children with rare genetic disorders. Every stronger movement, every milestone achieved and every
smile shared reflects not just medical progress—but renewed hope for children

Featuring insights from Dr. Viswanathan V, Pediatric Neurologist, Apollo Children's Hospitals, Chennai