In a First, Newborn Diagnosed with Two Rare Genetic Diseases at Jaipur Govt Hospital

In what doctors said is probably a first-of-its-kind case in the world, a newborn has been diagnosed with two rare genetic diseases at a government hospital in Jaipur. The baby has been diagnosed with Pompe disease and Spinal Muscular Atrophy (SMA), a doctor at J K Lone Hospital said on Wednesday.

While Pompe disease is a rare inborn error of metabolism, SMA is a disorder affecting the nervous system. According to the team of doctors treating the newborn, this is possibly a first-of-its-kind case in the world where one person has been diagnosed with two rare disorders. No such case can be found in the available medical literature.

The baby boy, who is 44 days old as on Wednesday, was referred from a hospital in Agra few days back with complaints of gradually progressive fast breathing and decreased movement of lower limbs, said Dr Priyanshu Mathur, who is part of the three-member team treating the newborn. “We have started treatment for Pompe disease and are looking for improvement before starting treatment for SMA 1,” he said, adding that patients suffering from these disorders do not survive without treatment.

Mathur said the drug for the treatment of Pompe disease costs around Rs 25-30 lakh per year, while that for SMA 1 costs around Rs 4 crore per year. In both cases, the drugs need to be administered lifelong. “Enzyme Replacement Therapy (Myozyme), for the treatment of Pompe disease, was made available as charity by the drug company. We have applied for charitable access to Evrysdi (Risdiplam), a new drug for the treatment of SMA,” he said.