A 24-year-old woman with Pompe disease – a rare, genetic and fatal disorder – delivered a healthy baby at Amrita Hospital in Kochi last week. According to doctors attending to the patient, who hails from Kollam, both the mother and baby are doing well.
Patients with this rare condition have muscle weakness and a spectrum of severe complications, and often require long-term, specialised treatments and management through Enzyme Replacement Therapy (ERT).
At a virtual media conference, Dr Sheela Nampoothiri, head of Paediatric Genetics, Amrita Hospital, said that this was the first recorded case of a Pompe patient in India who underwent the entire cycle of pregnancy to deliver a healthy baby.
“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,” said Dr Nampoothiri. The newborn female child, who weighed 2.8 kg at birth, does not carry the defective gene and is free of Pompe disease.
Dr Radhamani K, head of Obstetrics and Gynaecology at Amrita Hospital, along with her team of doctors and paramedics, said this very high-risk pregnancy of the Pompe patient and successful delivery of a healthy baby through elective caesarean surgery was a case study in itself.
“The patient was on ERT throughout her 37-week pregnancy, and will continue to be on treatment in the past-natal phase too,” she said, adding that the specialised team at the hospital monitored her condition through this entire phase.
According to Manoj Manghat, Kerala state co-ordinator of Lysosomal Storage Disorders Support Society (LSDSS), a patient advocacy group set up to fight for the cause of rare disease patients across the country, this has now raised hopes within the community, not just in Kerala but across the country, that patients who are put on treatment at an appropriate time can lead a normal life like others.
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