
Pune couple takes to crowdfunding to treat their one-year-old suffering from rare genetic disease
Pune-based couple Amit and Rupali Ramtekkar have taken to crowdfunding to cover the cost of Zolgensma therapy as their son Yuvaan is diagnosed with spinal muscular atrophy (SMA) and is undergoing treatment at Deenanath Mangeshkar hospital and research centre.
Amit Ramtekkar told The Indian Express that his son is a year old and his condition was diagnosed in November last year. “We spoke to several doctors about this therapy and Dr Sandeep Patil from Deenanath hospital and other doctors in Mumbai advised us to undergo this therapy. However the cost is a whopping Rs 16 crore,” Amit, who owns a small scale manufacturing unit in Pune, said.
SMA is a rare genetic disease that attacks the baby’s nerves and muscles, and as it progresses, makes it extremely difficult for the child to carry out basic activities like sitting up, lifting their head, swallowing milk, and even breathing. SMA is currently the leading genetic cause of infant death worldwide, and it affects 1 in 10,000 babies.
The drug, Zolgensma, works by replacing the missing SMN1 gene and restoring production of the SMN protein. This stops the disease’s progression. This drug has to be imported, and, commercially, Zolgensma is available in the USA for approximately USD $2.1 million (INR 16 crore). Amit said they have sent out an appeal on the ImpactGuru fundraiser.
“As a father I cannot lose hope,” he said. He has appealed for contributions for his son’s treatment and added that they have been able to raise Rs 10 lakh from more than 394 donors.
Team of doctors from Sahyadri Hospital save women from heart attack with rare anomaly
A team of doctors from Sahyadri hospital were able to save 41-year Reema (name changed on request) from a heart attack with a rare anomaly. She had suffered a massive heart attack with very low blood pressure (60 systolic) with poor heart contractility (LVEF 20%).
Left ventricular ejection fraction (LVEF) is the measurement of how much blood is being pumped out of the left ventricle of the heart which is the main pumping chamber, with each contraction. Ejection fraction can be measured using 2D-Echocardiography. She had inflammatory arthritis but no heart ailment or other traditional risk factors for heart disease like diabetes, hypertension or high cholesterol. She was in a very critical condition with very low body weight.
Doctors opted for primary angioplasty. When doctors started angioplasty, they couldn’t trace the normal origin of left sided heart vessel (LMCA). With 2-3 attempts with different catheters, doctor could trace origin of left main artery from the right side, which was 100 per cent occluded from stump, that is, it was fully blocked. This condition called anamolous LMCA is very rare and found only 5 in 10000 individual and present since birth.
“There were many technical challenges for primary angioplasty in this case, as low BP, poor heart function, ventricular arrhythmia added by anomalous vessel origin -LMCA in heart attack setting,” said Dr Jagjeet Deshmukh, interventional cardiologist, Sahyadri hospital, Hadapsar, Pune. Dr Deshmukh added that after heart attack prompt treatment like primary angioplasty can cause good recovery within few days. The patient was discharged after six days.
Obesity is a global epidemic. March 4 was observed as International Obesity Day
Obesity is a global epidemic and associated with an increased risk of many chronic diseases, with the greatest burden resulting from osteoarthritis. March 4 was World Obesity Day and on the occasion doctors have said that timely intervention is critical for effective management of obesity.
For instance in India, knee arthritis is a common cause of pain and even disability especially amongst the elderly. Any extra weight places extra pressure on the knee joint, stresses muscles, causes early wear of smooth and soft articular cartilage resulting in further degeneration and eventually arthritis.
Controlling weight can ease arthritis pain and lower the chances of serious joint damage and surgery in the future, says Dr S Bhaskaran, consultant orthopaedics and joint replacement surgery at Columbia Asia hospital.
– Stay updated with the latest Pune news. Follow Express Pune on Twitter here and on Facebook here. You can also join our Express Pune Telegram channel here.
According to Dr A G Unnikrishnan, chief endocrinologist and CEO of Chelllaram Diabetes Institute, obese people are more likely than normal-weight people to get other diseases that are independent risk factors for severe COVID-19, including heart disease, lung disease, and diabetes.
They are also susceptible to metabolic syndrome, in which blood sugar levels, fat levels, or both are unhealthy and possibly lead to high blood pressure.
Pune’s Dr. Kaustubh Radkar selected as Fit India Ambassador

Pune’s Dr. Kaustubh Radkar has been selected as Fit India Ambassador which is part of the Fit India movement launched by Prime Minister Narendra Modi in 2019. The intention of the movement is to take the nation on a path of fitness and wellness and make India a fit society.
Dr Radkar, who is 25-time Full Ironman finisher, and one of the most accomplished triathletes in India, says it’s a great honour to be part of this mission started by the Prime Minister and is looking forward to taking part in motivating more people to invest in their fitness.
As part of RadStrong Coaching through various programs, Kaustubh has been training more than 1,000 athletes world-wide to take part in running, triathlon or Ironman events. A former swimming national champion who represented India at several Asia Pacific meets, Kaustubh started participating in Ironman’s from 2008 and has inspired a lot of athletes world-wide to take triathlons.
Through this appointment, Kaustubh says he looks forward to working with the Government, and other ambassadors to inspire more people to take up fitness as a part of their daily lifestyle.