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In a first in India, Pompe patient gives birth to healthy baby

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In a first in India, Pompe patient gives birth to healthy baby

A 24-year-old Kerala woman with the rare and fatal genetic disease ‘Pompe’ gave birth to a healthy baby in a private hospital in Kochi last week. The incident has raised high hopes for the medical fraternity that the case is a testimony that people diagnosed with the grave disease can lead a normal life if it is diagnosed and treated early.

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 or mutations in the GAA gene.

Patients with this rare condition have muscle weakness to a spectrum of severe complications, and often require long term, specialized treatments and management through Enzyme Replacement Therapy (ERT), a hospital statement said here on Wednesday.

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Dr Sheela Nampoothiri, Head of Paediatric Genetics of Amrita Hospital said 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 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, Namboothiri said. According to the statement, she expressed happiness that the baby, who weighed 2.8 kg at birth, does not carry the defective gene and is free of Pompe disease.

According to Manoj Manghat, Kerala state co-ordinator of Lysosomal Storage Disorders Support Society, 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 like others. Society is a patient advocacy group set up to fight the cause of rare disease patients in the country.

Tap To Explore More : Indian Express

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Delhi Weather and AQI Today: Warm start at 22.05 °C, check weather forecast for October 22, 2024

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Delhi Weather and AQI Today: Warm start at 22.05 °C, check weather forecast for October 22, 2024

Check the weather forecast and air quality updates for Delhi on October 22, 2024 here.

The temperature in Delhi today, on October 22, 2024, is 32.93 °C. The day’s forecast indicates a minimum and maximum temperature of 22.05 °C and 35.04 °C, respectively. The relative humidity is 26% and the wind speed is 26 km/h. The sun rose at 06:26 AM and will set at 05:44 PM.

Tomorrow, on Wednesday, October 23, 2024, Delhi is predicted to experience a minimum and maximum temperature of 27.42 °C and 34.91 °C, respectively. Tomorrow humidity levels will be at 20%.

With temperatures ranging between 22.05 °C and 35.04 °C, prepare for a hot day and plan outdoor activities accordingly. If you are sensitive to heat, take note of the weather forecast and consider appropriate attire and activities suitable for the prevailing weather.

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The AQI in Delhi today stands at 334.0, falling in the very poor category. Everyone should be cautious. Children and people with respiratory diseases, such as asthma, should stay indoors and others should also limit their outdoor activities. Usage of masks and air purifying devices is advised. Being aware of the AQI helps one make informed decisions regarding one’s overall well-being while planning the day’s activities.

Weather and AQI predictions in Delhi for next 7 days:

DateTemperatureSky
October 23, 202432.93 °CSky is clear
October 24, 202432.69 °CSky is clear
October 25, 202432.5 °CSky is clear
October 26, 202432.07 °CSky is clear
October 27, 202430.69 °CSky is clear
October 28, 202431.29 °CSky is clear
October 29, 202432.09 °CSky is clear

Weather in other cities on October 22, 2024

CityTemperatureSky
Mumbai28.35 °CLight rain
Kolkata28.84 °CSky is clear
Chennai28.94 °CLight rain
Bengaluru25.53 °CModerate rain
Hyderabad27.75 °CModerate rain
Ahmedabad31.9 °CSky is clear
Delhi32.93 °CSky is clear

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