The parents of 19-month-old Pilapitiya Shamel Adrian, who was diagnosed with spinal muscular atrophy (SMA) when he was 14 months old, are calling for support to help them raise the remaining S$900,000 needed to fund his one-time gene therapy drug called Zolgensma.
SMA is a neuromuscular disorder that affects the nerves and muscles, leading to muscle weakness that will worsen over time. It is hereditary and the condition is diagnosed via genetic testing. If left untreated, motor function is expected to decline with age, with attendant problems of respiratory insufficiency, swallowing dysfunction, motor contractures and scoliosis, hip dislocation, osteoporosis and fractures.
According to a spokesperson from National University Hospital (NUH), Onasemnogene abeparvovec (Zolgensma) is a novel drug that was approved by the US Food and Drug Administration (FDA) in May 2019 as a one-time gene therapy for children.
Aside from Zolgensma, other options of treatment for SMA include the use of other drugs and supportive treatment.
These alternative options for SMA include nusinersen (Spinraza), a recurring therapy given intrathecally every four-monthly, and risdiplam (Evrysdi), an oral medication administered daily.
NUH recommends multidisciplinary supportive care for all patients with SMA, regardless of which therapeutic option they choose, as those on alternative therapies will need to be on them for life.
The hospital notes that Shamelis currently receiving multidisciplinary supportive care from its medical team, and it s working with the family to provide support and assistance where possible.
The parents shared that the total cost of Zolgensma is S$3 million and said that NUH will be specially ordering and importing it into Singapore via a special access route as it does not qualify for subsidies.
Funds raised will be returned if target amount not met
S$2.1 million has already been raised since December 2022, but the remaining amount needs to be raised by 31 May 2023; otherwise, all financial contributions to the crowdfunding platforms and non-governmental organizations (NGO) will be returned to their respective donors.
Shamel’s parents, Dulanjali Wakwella and Achintha Pilapitiya, who are both 34-year-old Singapore Permanent Residents, are calling for help in funding their son’s treatment.
Dulanjali is a full-time housewife and Shamel’s primary caregiver, while Achintha works as the sole breadwinner for their family as a unified communications engineering lead for a multinational corporation.
After noticing that Shamel was missing key motor skill milestones at eight months old, including not being able to keep his head up during tummy time and sit without support, his parents sought medical help.
He was later diagnosed with SMA, which inflicts one out of 10,000 kids worldwide, causing a child to lose essential motor skills such as sitting, crawling, standing, eating, and even breathing.
Presently, Shamel is completely tube-fed and is only able to sit with support from his parents.
“I’m deeply moved when I stop to think of how Shamel will continue to deteriorate and possibly be partially paralysed due to the sickness in case he doesn’t get access to Zolgensma in time. On the other hand, Risdiplam, an oral medication that needs to be administered daily and costs us S$16,000 a bottle per month, will help in sustaining him until he receives the gene therapy Zolgensma,” said Shamel’s mother.
The parents are desperate to share their son’s plight with the public and hope that their story will touch the hearts of many.
They are calling for donations to help them raise the remaining funds to give their son a chance to live a normal life.
https://www.hopeforshamel.com/ for PayPal
Edit on 12 April: Update with information from NUH on SMA and Zolgensma