Close this search box.

For the first time in India, a mother with Pompe Disease gives birth at Amrita Hospital

Key Points

30 September 2020
Main topic
Related topics
Healthcare Humanitarian

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.

The 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!

Latest news

Watch Amma’s daily livestream

Amma offers us the possibility to connect online with her on a daily basis. During these livestreams, we can meditate with Amma, chant bhajans (devotional singing) and hear spiritual teachings.

Registration is required to access these livestreams:

Add Your Heading Text Here