Infantile Refsum Disease Treatment in India

Saanvi Malhotra is a 10-month-old girl,...

Saanvi Malhotra is a 10-month-old girl, the first child of young parents who immigrated from India. Her parents first noticed something was wrong when she was 4 months old; she wasn't reaching for toys, her eyes seemed to wander, and she was unusually floppy. By 8 months, she had lost the few motor skills she had gained. Her pediatrician referred her to a neurologist after noticing her poor growth and abnormal eye movements. The neurologist, suspecting a peroxisomal disorder, recommended genetic testing and specific biochemical tests for Infantile Refsum Disease (IRD). The diagnostic process was a long wait for blood and urine tests, followed by a confirmatory genetic panel. The experience was stressful, involving multiple clinic visits and blood draws that distressed Saanvi and her parents. The post-diagnosis outcome was a confirmed IRD diagnosis. There is no cure, but the treatment plan involved a strict diet very low in phytanic acid (found in dairy and certain meats), vitamin supplements, and physical therapy. The emotional journey was devastating. Her parents grappled with grief, guilt, and fear for their daughter's future. After the diagnosis, while heartbroken, they found a direction. They connected with a support group and focused on managing her diet and therapy, finding strength in advocacy and small improvements in her alertness.