First Time in India, Pompe Patient Gives Birth to Healthy Baby

A Kerala hospital has achieved a rare fete by assisting a Pompe patient to successfully give birth to a healthy baby.

This was made possible by Amrita Hospital, Kochi, in the first week of October. According to the doctors who attended the 24-year-old patient, the mother and the newborn are stable. The hospital claims this is the first such successful case in the country.

Pompe disease is a Lysosomal Storage Disorder (LSD), a serious chronic, debilitating condition, caused by pathogenic mutations in the GAA gene. Patients with this rare condition often experience muscle weakness and many other serious complications. They often require long-term, specialised treatments, and management through Enzyme Replacement Therapy (ERT).

Dr. Sheela Nampoothiri, Head of Paediatric Genetics at Amrita Hospital says that this was the first recorded case of a Pompe Patient in India who successfully underwent the entire cycle of pregnancy to deliver a healthy baby.

“This was possible as the patient was put on life-saving Enzyme Replacement Therapy (ERT) under the Sanofi Genzyme supported Indian Charitable Access Programme (INCAP). This case is a testimony that patients diagnosed with rare diseases like Pompe can lead a near-normal life if they are put on life-saving treatment early,” Dr. Sheela said, expressing happiness that the newborn female child, who weighed 2.8 kg at birth, does not carry the defective gene and is free of Pompe disease.

According to Dr. Radhamani, Head of Obstetrics and Gynecology, Amrita Hospital, this was a high-risk pregnancy.

“The successful delivery of the baby was done through elective lower segment Caesarean surgery and this in itself is a case study. The patient was on ERT throughout her 37-week pregnancy and will continue to be on treatment,” she said.

Lysosomal Storage Disorder Support Society (LSDSS) a patient advocacy group has appealed to the government to create a sustainable funding mechanism for such patients.

Source: India Today

Image Courtesy: Chateleine