Our Amrita Hospital performed a surgery on a rare case saving a mother and her newborn, as the first in India. We are extremely happy to share the birth of a female baby born to a mother with juvenile Pompe disease on enzyme replacement therapy since 6 years at our Amrita Institute of Medical Sciences, Kochi campus. This is the first case of a woman with Pompe disease giving birth to a baby from India. Pompe disease is a rare, multisystemic, hereditary disease, which is caused by pathogenic abnormalities/mutations in the ‘GAA gene’. Patients with this condition have muscle weakness to a spectrum of severe complications.
As this was a very high-risk pregnancy with the patient having severe proximal muscle weakness she was planned for elective Lower Segment Caesarian surgery under regional anesthesia. The surgical team consisted of Dr. Radhamoni, Dr. Vinitha, Dr. Girija, Dr. Jean, and Dr. Neethu as anesthetist. A prenatal workup was done to check whether her husband was a carrier and as he was not a carrier for Pompe disease invasive test was not offered as the baby will not be affected as the condition is an autosomal recessive disorder. Mother was continued on enzyme replacement therapy throughout pregnancy and the baby can be breastfed too. The genetic team includes Dr Sheela Namboothiri, HOD, Department of Pediatric Genetics, along with Dr Dhanya and Dr Shwetha.
Congratulations doctors, patient, and the newborn!