KUALA LUMPUR: "Seeing Naail smile and hearing his joyful sounds fills us with happiness and gratitude, knowing that the kindness of our fellow Malaysians has given our child a chance at life," said Wan Aslam Zakaria.
Wan Aslam, 31, is the father of two-year-old Wan Muhammad Naail, who suffers from Spinal Muscular Atrophy (SMA) Type 1.
Naail received the life-saving cell and gene therapy product (CGTP) called Zolgensma, which cost RM9.8 million, in June last year.
More than a year later, Naail's condition is improving, although he still requires respiratory support.
Wan Aslam said Naail's progress has been encouraging, even though the treatment is not a cure.
"The Zolgensma treatment has halted the deterioration of his muscles, preventing his condition from worsening and posing a risk to his life.
"Naail's muscles are no longer degrading, and we continue various therapies, including physiotherapy, to strengthen them. Thankfully, we're seeing positive changes - he's becoming more active and can now grasp and scratch his face.
"He can also hold his head up more steadily and sit with assistance for longer periods than before," he explained.
"He can now wear his breathing mask for about an hour at a time. He smiles and vocalises during bath time, although his words are not yet clear. Naail is undergoing speech therapy, but he still struggles with swallowing and uses a feeding tube," Wan Aslam added.
Living in Bandar Bukit Mahkota, Bangi, he expressed immense joy at his son's gradual improvement.
"We long to hear Naail call us 'Abi' and 'Mummy,' but we understand his limitations and believe that one day we will hear him, God willing. I'm deeply grateful to everyone in this country who contributed to Naail's fund.
"The cost of the medication was beyond our means, making it impossible to raise such funds. Yet, the compassion of Malaysians gave him a chance to live with us.
"Our son's resilience inspires us not to give up," he shared.
Another SMA patient, Nur Adra Sofea, received the Zolgensma injection in June 2020.
"Alhamdulillah, my child's progress has been very encouraging. For SMA Type 1, children typically survive only until the age of two without treatment," said her mother Juwairiyah Mdrejab, 35.
"While my daughter's condition is not cured, the treatment has led to significant improvements.
"She is active but still needs regular physiotherapy and uses a wheelchair. When she was an infant, she needed round-the-clock respiratory support, but now she only needs it during sleep.
"Her muscle strength is improving; she can swallow her saliva and her voice is clearer and stronger," Juwairiyah said.
She and her husband, Mohd Firdaus Mohd Ghani, 38, are thankful for the opportunity to receive the drug which was funded by a private company.
"We, as parents, are moved by the support we've received, and we hope that other families facing similar challenges can also have access to this treatment," she said.
Meanwhile, the head of the Neurology Unit at the Al-Sultan Abdullah Medical Department of Universiti Teknologi Mara (UiTM) Puncak Alam, Associate Professor Dr Shalini Bhaskar explained that a single dose of Zolgensma can halt the progression of SMA, but it is not a cure and cannot repair damage caused by the SMA gene before treatment.
She noted that Zolgensma is a one-time injection that replaces the defective Survival Motor Neuron 1 (SMN1) gene with a normal SMN1 gene, utilising a recombinant adeno-associated viral vector that encodes the normal complementary DNA for the SMN1 protein.
"Zolgensma is a gene therapy for children under two years old diagnosed with SMA Type 1. This treatment aims to enhance muscle movement, functionality, and overall survival," she stated.
She said SMA is a group of genetic diseases that damage motor neuron cells, which control movement, resulting in persistent muscle weakness that ultimately causes atrophy.
Most cases of SMA occur due to the inheritance of a defective gene from both parents.
It is an autosomal recessive disorder, meaning that an individual needs to inherit two mutated genes to develop SMA. Those who inherit only one defective gene are carriers and do not show any symptoms.
The Health Ministry has approved Zolgensma as a treatment for SMA since Jan 2021. The estimated cost of one dose can reach up to US$ 2,125,000 (RM 9.3 million).
The high price of Zolgensma is influenced by the limited market size and its potential to save lives.