KOCHI: In a first in the country, a 24-year-old woman suffering from Pompe disease, a rare genetic and often fatal disorder, delivered a healthy baby at Amrita Hospital here. The doctors at the hospital said both Shabnam and her baby were doing well. The development had given hope to patients suffering from Pompe, a Lysosomal Storage Disorder (LSD) which is a serious chronic and debilitating condition caused by pathogenic abnormalities or mutations in the GAA gene. People suffering from the rare condition have muscle weakness and a spectrum of severe complications that often require long term, specialised treatments and management through Enzyme Replacement Therapy (ERT).
Dr Sheela Nampoothiri, the head of Paediatric Genetics department at Amrita Hospital, said this was the first recorded case of a Pompe patient in India successfully carrying the pregnancy to full term and delivering a healthy baby. “This was only possible as the patient was put on lifesaving ERT under the Sanofi Genzyme supported by India Charitable Access Programme (INCAP) around six years ago after she was diagnosed with the disease,” she said.
“This case is a testimony that patients diagnosed with rare diseases like Pompe can lead a near-normal life if they are put on lifesaving treatment early,” Dr Sheela said, expressing happiness that the newborn girl, who weighed 2.8kg at birth, does not carry the defective gene and is free of Pompe disease.Dr Radhamani K, head of Obstetrics and Gynaecology at the hospital, said this very high-risk pregnancy and successful delivery of a healthy baby through elective lower segment Caesarean surgery is a case study in itself.
Manoj Manghat, Kerala coordinator of LSD Support Society (LSDSS), a patient advocacy group, said the development had raised hopes of the Rare Disease community of Kerala and India. “The state government recently started infusion therapy for two toddlers diagnosed with Pompe disease,” he said.