Docs help woman with rare disease get a healthy baby

Namrata Devikar
Monday, 28 January 2019

Pratibha Singh, a 32-year-old who had Mitochondrial Chronic Progressive External Opthamoplegia (CPEO), a genetic and rare disease with no treatment recently delivered a baby girl at a city-based hospital.

Pune: Pratibha Singh, a 32-year-old who had Mitochondrial Chronic Progressive External Opthamoplegia (CPEO), a genetic and rare disease with no treatment recently delivered a baby girl at a city-based hospital. Thanks to the efforts of the doctor, timely treatment and regular check-up, the newborn is healthy and does not have this disease. 

Speaking to Sakal Times, Singh noted that she was diagnosed with the disease at the age of 21 years. “Unfortunately there is no treatment. This is a transferable disease and so the baby could have got it. So I went to New Castle in United Kingdom (UK) for three parents child. There the doctors discovered there are five to 10 per cent chances that the child gets this same disease. Hence the doctors suggested that there is no need to go for three parents child. They asked me to send a sample of placenta to them after I conceive for testing if the baby has the same condition,” said Singh. Three parents child is a recently developed procedure and is similar to In Vitro Fertilisation (IVF) but uses genetic material from three people. It was developed for women who have genetic mutations in the DNA of their mitochondria which power a cell.
 
However, Singh was advised to go ahead with a normal pregnancy. After conceiving the baby, she wanted to send the sample to UK for further testing. This is when she met Dr Nina Mansukhani from Jehangir Hospital in Pune. Dr Mansukhani said complications in mitochondrial disease are many. “It is a  rare condition where the metabolic problem affects the functioning of the body. Mitochondria at cellular level is responsible for various functions. So many functions can get disrupted. In this case, the patient was suffering from ptosis which is a drooping or falling of the upper eyelid. The drooping may be worse after being awake longer, when the individual’s muscles are tired. In this case it becomes progressive,” said Dr Mansukhani. She said in rare cases of such types there are chances of miscarriage.

“First and the most important thing was  to check if the baby was not affected. We did send the sample to UK for further testing. Secondly, there are chances of muscle weakness, early labour, sickness, pain, inability to push during labour and other things. Hence after the test results for the baby came negative we went ahead with the pregnancy,” said Dr Mansukhani. She said both the baby and the mother are now doing fine.

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