Jaipur (Rajasthan) [India], September 10 (ANI): Doctors at the JK Lone Hospital in Jaipur began treating a newborn who is suffering from two rare diseases, which according to documented records also could be the first such case in the world.
The 44 days old baby, suffering from Pompe disease (Lysosomal storage disorder), along with Spinal Muscular Atrophy (SMA) type 1, was brought to the hospital just 20 days after delivery from Agra, Uttar Pradesh by his parents with complaints of fast breathing since five days. They also noticed the decreased movement of lower limbs.
Upon examination by the doctors, the newborn was found to have an enlarged heart, breathing difficulties and muscle weakness, and other symptoms that showed the baby suffered from infantile-onset Pompe disease.
The team of doctors also evaluated the newborn for SMA type 1 in view of the decreased movement and reflexes, which was confirmed by the medical reports.
While Pompe disease is a rare inborn error of metabolism with an estimated frequency of about 1/40,000 and can affect both sexes equally, the SMA is a genetic disease affecting the nervous system and voluntary muscle movement. It affects approximately 1 in 11,000 births and can affect any race or gender.
The team of Dr Ashok Gupta, Dr Priyanshu Mathur and Dr. Ramesh Choudhary at the Rare Diseases Center, JK Lone Hospital started the Enzyme Replacement Therapy (ERT) Algulcosidase alfa (Myozyme) on the baby.
The drugs for the Pompe disease treatment, which cost in upwards of lakhs per year, were provided through the compassionate use program, while charitable access for a new drug for SMA type-1, Evrysdi (Risdiplam), has been applied for and is likely to arrive soon.
"The Rare diseases team of JK Lone Hospital is treating a baby wihos is suffering from two rare diseases. This is probably the first reported case of one patient suffering from two diseases. We are hoping that the baby will recover soon and will be able to lead normal life," Dr Priyanshu Mathur, Associate Professor and Consultant Pediatric, Rare and Metabolic Genetic Disorders, JK Lone Hospital said. (ANI)