High hopes prevail within the medical fraternity and patients diagnosed with Pompe disease – a rare, genetic fatal disorder – after a 24-year-old patient delivered a healthy baby at the Amrita Hospitals in Kochi on Wednesday last week. According to doctors attending to the patient, who hails from Kollam, both the mother and baby are doing well.
Pompe disease, a Lysosomal Storage Disorder (LSD), is a serious chronic, debilitating condition, caused by pathogenic abnormalities/mutations in the GAA gene. Patients with this rare condition have muscle weakness to spectrum of severe complications, and often require long term, specialized treatments and management through Enzyme Replacement Therapy (ERT).
According to Dr Sheela Nampoothiri, Head of Paediatric Genetics, Amrita Hospital, “This is the first recorded case of a Pompe patient in India who underwent the entire cycle of pregnancy to deliver a healthy baby. This was only possible as the patient was put on life-saving Enzyme Replacement Therapy (ERT) under the Sanofi Genyzme supported India Charitable Access Programme (INCAP) around 6 years ago after she was diagnosed with juvenile onset of Pompe disease.”
“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 new born female child, who weighed 2.8 kilo 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 lower segment Caesarean surgery is 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, explaining that the specialised team at the hospital minutely 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 the cause of rare disease patients across the country, hopes have now been raised within the Rare Disease 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 lie others. “The Kerala state government has recently started infusion therapy on two toddlers, diagnosed with Pompe disease. We would like to appeal to the governments at the states and the Centre to create a sustainable funding mechanism for such patients.”
“We are extremely hopeful that the Kerala government will now create a dedicated fund pool to support the treatment of all LSD patients in the state,” he said, explaining that the delay in the finalization of the National Policy on Rare Diseases 2020 and the absence of sustainable funding mechanism for those diagnosed with Group 3 disorders like LSDs have caused immense distress to the patients and many lives are already lost.
Anil Raina, General Manager – India, Sanofi Genzyme said, “Through our Charitable access programs, we provide free drugs to patients with four Lysosomal Storage Disorders (LSDs) – Gaucher disease, Pompe disease, Fabry disease and MPS I disease. The first patient in India received free ERT in 1999 and as on date more than 130 patients are receiving free ERT under the programs.”
“These Rare Diseases disproportionately impact children, often resulting in some form of handicap, which can sometimes be extremely severe. Given their rarity, these conditions are difficult to diagnose and treat, and patients end up enduring a long journey involving specialty doctors, tests and misdiagnoses,” he said, explaining that it is time patients diagnosed with rare, hereditary disorders have sustainable funding support for their treatment.