A 24-year-old patient diagnosed with Pompe disease, a genetic fatal disorder, delivered a healthy baby at the Amrita Hospital here.

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).

Sheela Nampoothiri, head of paediatric genetics, Amrita Hospital, said the patient had undergone the entire cycle of pregnancy to deliver a healthy baby as she had been put on the life-saving ERT under an access programme around six years ago after she was diagnosed with juvenile onset of Pompe disease.

Dr. Sheela said that this case was a testimony that patients diagnosed with rare diseases such as Pompe could lead a near-normal life if they were put on life-saving treatment early. The new-born female child, which weighed 2.8 kg at birth, did not have the defective gene and was free of Pompe disease, she said. Radhamani K., head of obstetrics and gynaecology, said that the patient was on ERT throughout her 37- week pregnancy and would continue to be on treatment in the post-natal phase too.

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Woman with rare disease delivers healthy baby - The Hindu

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