Singapore Nurses Seek S$2.4 Million for Baby's SMA Gene Therapy as Rare Disease Families Face Stark Realities
核心洞察
Nine-month-old Matthias was diagnosed with Type 2 Spinal Muscular Atrophy (搜索) after his parents, both nurses, noticed progressive leg weakness and loss of motor skills at seven months.
Doctors recommend the one-time gene therapy Zolgensma before 12 months of age to halt irreversible neuron loss, but the S$2.4 million treatment is unsubsidized by the government.
The family has raised over S$904,000 through public donations as of writing, reaching 37 percent of their goal, while Matthias receives physiotherapy and subsidized Risdiplam to slow disease progression.
Yun Hann and Benjamin, both long-time nurses in Singapore's public healthcare system, never imagined their third child would be diagnosed with a rare genetic disorder. But at seven months old, baby Matthias began showing signs that something was seriously wrong — his legs became increasingly "floppy" when held in a standing position, and by eight months, he had lost the ability to prop himself up on his elbows, a skill he had mastered just weeks earlier.
"That was the biggest red flag," Yun Hann, 34, said. The couple, who had read previous reports about other Singaporean babies diagnosed with Spinal Muscular Atrophy (搜索) (SMA), recognized the pattern. On July 13, their worst fears were confirmed: Matthias was diagnosed with Type 2 SMA.
SMA is a rare genetic disease that destroys motor neurons and progressively weakens muscles. The condition is caused by a faulty gene, and without intervention, the damage to neurons is largely irreversible.
A Race Against Time for Gene Therapy
Doctors told the couple that Matthias urgently needs Zolgensma, a one-time gene therapy that replaces the defective gene with a functioning copy. The treatment has been shown to halt disease progression with a single dose.
However, Zolgensma carries a price tag of S$2.4 million and is not subsidized by the Singapore government. Physicians recommended that Matthias receive the infusion before he turns 12 months old.
"Every day that he doesn't have the gene therapy is a day of neurons lost," Yun Hann said.
Currently, Matthias is on a regimen of physiotherapy and Risdiplam, a government-subsidized oral medication that helps slow disease progression but cannot stop it entirely. The hope, his parents said, is for their son to receive Zolgensma as soon as possible so he can grow well and have a good future.
The Human Toll on a Healthcare Family
Both Yun Hann, who works at the National Centre for Infectious Disease (搜索), and Benjamin, 36, a nurse at Tan Tock Seng Hospital (搜索), had never cared for an SMA patient before. Nothing prepared them for witnessing their own child struggle with basic mobility skills they had "taken for granted."
Despite the challenges, Matthias has maintained his sunny disposition. "He's still the most calm, the most placid, the most gentle and smiley baby," Yun Hann said. "He's very sociable. He's charming people everywhere we go, whether it's the physiotherapists or the doctors and nurses that are taking care of him."
The couple continues to work full-time, taking leave only for Matthias's hospital therapy sessions. Their parents assist with daytime physiotherapy and medical appointments. "Like the saying goes, it takes a village to raise a child," Benjamin added.
Fundraising Amid Donor Fatigue Concerns
Having previously donated to fundraisers for two other Singaporean SMA babies — Ginny and Faziq — the couple knew the amount required would be "astronomical."
"For average salary workers like us, I think it's almost impossible," Benjamin said. "Even if I sell our house, I don't eat, I don't pay any bills, I don't think I will be able to save S$2.4 million within the next five to eight years."
The couple launched an online fundraiser, though doctors cautioned them about potential donor fatigue given that Matthias is the third SMA baby case in Singapore this year. "Our doctors [tried to] manage our expectations because this will be the third baby with SMA this year," Yun Hann said.
As of the time of writing, they have raised over S$904,000, reaching 37 percent of their goal. Fellow parents of SMA babies have reached out to share their experiences, providing comfort through shared journeys. "The community has really rallied [around] and supported us," Yun Hann said. "It's a club that nobody wants to join, but unfortunately, we are in this club."
The Broader Rare Disease Landscape
The case of baby Matthias highlights the immense financial burden facing families with rare genetic disorders in Singapore. While Risdiplam offers a subsidized option to slow SMA progression, the curative potential of Zolgensma remains out of reach for many without substantial public support.
The road ahead remains long. Even after gene therapy, Matthias will require ongoing physiotherapy and care to maximize his development. Meanwhile, his parents must also support their two other young children, aged four and six, who are healthy.
"I think the road ahead is going to be really long," Yun Hann said. "We both definitely will still need to work in order to support all the kids."