Two-year old gets gene therapy
PHOTO: FILE
Shavez, a two-year-old boy from Punjab's Chiniot district, was diagnosed with Spinal Muscular Atrophy (SMA) at the age of SIX months.
This news disturbed Shavez's parents as his elder sister already had this condition, and the parents knew all too well what it meant for their child's life. "Even though we had a daughter with the same condition, no doctor ever told us that the condition could occur again if we got pregnant", said Liaqat Ali Ghauri, Shavez's father.
In this condition, patients experience muscle weakness, decreased muscle tone, limited mobility, breathing problems, delayed motor skills and scoliosis (curvature of the spine) and other serious health problems. Many children suffering from this condition do not survive beyond their second birthday.
SMA is a group of hereditary diseases that destroys motor neurons - nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy.
Even though there is a lack of data to assess the prevalence of SMA in Pakistan, cousin marriages are the most common reason attributed for its occurrence.
"I am really happy my child is recovering," Ghauri said in a press conference held at the AKU on Thursday. "It was a miracle," he added. "We were totally hopeless but not we see my son improving," he said with a big smile.
Ghauri had done his research with his daughter and knew there were no treatment options available until 2019, when Novartis, a global pharmaceuticals company, developed a gene therapy drug to cure the condition.
This is a new drug that only requires one dose to cure the disorder, but the cost of this drug is millions of dollars, making it out of reach for most people.
Novartis developed a globally managed access programme to provide free-of-cost therapy to 100 patients a year to address this. Shavez was one such lucky patient, selected by Novartis to receive the drug and became the first such candidate in Pakistan.
Published in The Express Tribune, December 10th, 2021.