Rajasthan:- 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). It was probably a first-of-its-kind case in the world. Pompe disease is a rare inborn error of metabolism, SMA is a disorder affecting the nervous system. The team of doctors stated that this is possibly the 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.
A 44 days old baby boy as on Wednesday with complaints of gradually progressive fast breathing and decreased movement of lower limbs was referred from a hospital in Agra a few days back. They have started treatment for Pompe disease and are looking for improvement before starting treatment for SMA 1. The doctor’s adding that patients suffering from these disorders do not survive without treatment.
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. An Enzyme Replacement Therapy (Myozyme), for the treatment of Pompe disease, was made available as a charity by a drug company. They have applied for charitable access to Evrysdi (Risdiplam), a new drug for the treatment of SMA.
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