JAIPUR: Government-run JK Lon Hospital has started giving a patient the most expensive treatment the facility has ever provided. The drug costs Rs 4 crore per year and the patient will have to take it lifelong.
The patient, a three-year-old boy who is suffering from Spinal Muscular Atrophy (a rare disease), was fortunate to have been selected by the company which is manufacturing the drug. The company has decided to provide it to the boy on charitable access programme (CAP).
The boy hailing from Uttar Pradesh is the son of an armyman. He was recently given the first dose of the medicine. The best part of the treatment is that the medicine is taken orally daily and it can be taken at home. However, the hospital has asked the patient to come to the hospital every month for follow up so that they would be able to monitor his health and the power his muscles have gained.
JK Lon Hospital superintendant Dr Ashok Gupta said, “The child was brought to our hospital from Gorakhpur for treatment. When he was 8 months old, his mother noticed that the child showed decreased movements and weakness in lower limbs. When the child was unable to stand and walk, his parents consulted doctors and a genetic test was done which confirmed the diagnosis of Spinal Muscular Atrophy (SMA).”
During diagnosis, doctors discovered mutation in the survival motor neuron gene 1 (SMN1) of the boy, which is the cause of SMA. In a healthy person, SMN1 gene produces a protein that is critical to the function of the nerves that control the muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness. The only hope for the boy was the treatment for the disease, but it was quite expensive.
The medicine which the boy started taking at JK Lon Hospital acts on pseudogene of SMA and acts by including Exon 7 of SMA pseudogene in translation of SMN protein. It is expected that with formation of functional protein with this drug, the patient will be able to lead a normal life.
Individuals with SMA have difficulty performing basic functions like breathing and swallowing.
The patient, a three-year-old boy who is suffering from Spinal Muscular Atrophy (a rare disease), was fortunate to have been selected by the company which is manufacturing the drug. The company has decided to provide it to the boy on charitable access programme (CAP).
The boy hailing from Uttar Pradesh is the son of an armyman. He was recently given the first dose of the medicine. The best part of the treatment is that the medicine is taken orally daily and it can be taken at home. However, the hospital has asked the patient to come to the hospital every month for follow up so that they would be able to monitor his health and the power his muscles have gained.
JK Lon Hospital superintendant Dr Ashok Gupta said, “The child was brought to our hospital from Gorakhpur for treatment. When he was 8 months old, his mother noticed that the child showed decreased movements and weakness in lower limbs. When the child was unable to stand and walk, his parents consulted doctors and a genetic test was done which confirmed the diagnosis of Spinal Muscular Atrophy (SMA).”
During diagnosis, doctors discovered mutation in the survival motor neuron gene 1 (SMN1) of the boy, which is the cause of SMA. In a healthy person, SMN1 gene produces a protein that is critical to the function of the nerves that control the muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness. The only hope for the boy was the treatment for the disease, but it was quite expensive.
The medicine which the boy started taking at JK Lon Hospital acts on pseudogene of SMA and acts by including Exon 7 of SMA pseudogene in translation of SMN protein. It is expected that with formation of functional protein with this drug, the patient will be able to lead a normal life.
Individuals with SMA have difficulty performing basic functions like breathing and swallowing.
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