Justice, equality and progress for Singapore’s rare disease communities

*This article was first published on We, The Citizens on 5 July 2023.

Dear Reader,

In hindsight, crowdfunding to treat my rare neuromuscular disease was inevitable. I had been waiting years for Risdiplam, an oral disease-modifying treatment (DMT) for spinal muscular atrophy (SMA), to become not only available but financially accessible to Singaporean adults. After it was approved for use by the Health Sciences Authority, my neurologist at the National Neuroscience Institute (NNI) filed an application for public aid… which turned into multiple appeals, even going up to the board of ethics, to no avail. Meanwhile, due to the progressive muscle-wasting nature of SMA, I lost the ability to hold my head upright and to feed myself. I watched myself wither away, drowning in suicidal grief and frustration because I knew the rapid deterioration of my body was unnecessary.

It’s painful to publicly state that your country’s healthcare system has failed you. But the fact is, despite all the pros, like subsidies for Singaporean citizens, there are cons—financial, practical and social—that cost the lives of rare disease patients. I know because it has almost cost mine, and may yet do so in time.

Last September, I was admitted to Tan Tock Seng Hospital (TTSH) for an infection. As an adult, I could no longer be sent to KK Hospital despite my preference to remain in the hands of those familiar with how my disease has affected my body. All my records were transferred to TTSH a few years ago. I was told that TTSH’s team was familiar with SMA. I had a good experience with their homecare team, so I believed them. I did not expect the hospital staff to later cling to policy and protocol—whether out of fear of their higher-ups or out of ignorance, I’m not sure—rather than consider that my disability would require special care.

Due to emergency room policies preventing my caregivers from accompanying me, I was separated from my mother and domestic helper and left screaming for help, waiting for hours for someone to adjust my body and ventilator mask. During admission, my mum had to fight for permission to stay with me overnight, given that the staff weren’t familiar with my body’s unique needs. Later that night, after I developed sepsis and my breathing became laborious, the doctors on the night shift refused to increase my ventilator’s settings to grant me immediate relief because they wanted the morning team to examine me first. To top everything off, I was unable to receive medication or nutrition that night because of a failed insertion of an arterial line that damaged the hand able to tolerate an intravenous line (SMA patients are notorious for having small veins).

In other words, we had to beg doctors to trust that we knew better while my condition was rapidly declining.

The night of my admission, my mum was told my acid levels were too high and I would pass within three days. I survived because of a consultant who examined me in the morning. He was determined to help me recover, and knew he had to listen to my voice and my mum’s to learn how. But that was one doctor out of several I met in TTSH. My September stay taught me just how unprepared our healthcare professionals and system are for patients with rare diseases.

This unpreparedness also shows the lack of funding for new medications to treat us. As Health Minister Ong Ye Kung said in November last year, “Medicines for rare disease patients can exceed $200,000 per patient annually, with varying efficacies, and our healthcare financing system is not designed to support such high-cost treatments.” In 2021, Today Online reported that out of 22 novel drugs approved by US Food and Drug Administration (FDA) for rare diseases, only six are covered by Singapore’s Rare Disease Fund (RDF). Currently, only nine Singaporeans are supported by the RDF. Nine, out of an estimated 2,000 to 3,000 Singaporeans living with rare diseases.

It is one thing to be unprepared, another to lack a sense of urgency. Even as Minister Ong affirmed the “need to support and embrace technological advances” in a speech following the President’s Address in April, his statement that we “require a rethink of our healthcare financing policies, especially the role of medical insurance and MediShield Life” to fund that support could be interpreted as tacit acknowledgement that the Ministry of Health hasn’t done much to further the cause. The RDF, which I’d suspect most Singaporeans have never heard of, has ultimately failed to effectively boost the overall health of our rare disease population.

What’s devastating is, the RDF itself is a limited option. It’s a charity fund that relies on donations (the government matches $3 for every $1 donated), but I’ve never seen its existence broadcasted as loudly as other government-backed initiatives, save for when the mainstream media mentions that the subject is being talked about in Parliament. One has to wonder why it’s taking so long for the health ministry to conceive and launch alternative solutions to aid rare disease patients, or at least make its existing solution more robust.

There has been mainstream coverage of people with SMA in recent years. 2017 was the first year The Straits Times wrote about a crowdfunding campaign set up to acquire a disease-modifying treatment for an SMA patient. That DMT was Spinraza, the very first to directly treat SMA’s underlying cause; it is administered through routine intrathecal injections, which cost $1 million for the first year’s loading doses and $522,400 per year subsequently for maintenance doses. But it was a single article, and the child’s family—who were unnamed—never received a follow up from mainstream news. It wasn’t until 2021 that a crowdfunding effort for an SMA patient went viral and received a steady stream of attention. This time, the patient was named: Devdan Devaraj is the boy who kicked off what might’ve been the start of true widespread awareness of SMA in Singapore.

Like myself, Devdan was diagnosed with SMA Type II. Without treatment, he would’ve been fated to a non-ambulatory life, machines to support his respiratory system after a certain age, corrective spine surgery if he was eligible, and—as is common among disabled people—mental health troubles. But thanks to his parents’ efforts and compassionate Singaporeans, he received enough funding for a one-time genetic therapy, Zolgensma, in 10 days. Zolgensma cost around $2.9 million in 2021, but had its price lowered to $2.4 million this year.

After Devdan’s success came infant Zayn Abdat’s in 2022. Diagnosed with SMA Type I, Zayn was in critical condition, intubated to prevent his lungs from collapsing in NUH’s ICU, when his parents launched his crowdfunding campaign. Although the lifespan of a SMA Type II patient is close to the average non-disabled person’s with intervention, Type I patients typically don’t live past the age of 2. To stabilise his condition while they waited for the funds, doctors prescribed him Risdiplam, which cost $15,000 (now $9,000) per bottle. Risdiplam kept Zayn going at the time, but it’s hard to say what would’ve happened if an anonymous donor hadn’t donated the remaining $1.5 million he needed at the last minute before his campaign’s expiration.

Toddler Shamel Adrian, with Type II, was the next to successfully fundraise enough for Zolgensma, from 2022 to 2023—but not without a time extension for his campaign or Zolgensma’s drop in price.

Before these successful cases, however, was the lesser known baby Rayyan Qush, who had Type II. His mother, a single mother of five children, hoped to raise enough for Zolgensma in 2020. Unfortunately, Rayyan succumbed to the disease and died on New Year’s Day in 2021 at 14 months old.

That’s five cases in six years. Four of them were high profile—Zayn was on Channel 5’s evening news—and one of them ended in death. Why is it taking so long for Singapore’s leaders to come up with better funding solutions or stopgaps for rare disease patients, when we are suffering and our fellow Singaporean citizens are beginning to notice?

Perhaps it is unwise of me to use such pointed language towards our government. I am the sixth SMA patient to fundraise for treatment, and I still need their help. But unless our politicians have had to beg strangers for money to treat their child or themselves, they do not and cannot know how upsetting it is to wait around for help. Most of all because SMA, like many rare diseases, is a time-sensitive disease. The longer you wait to be treated, the less effective your treatment will be.

Which brings us back to my story.

It was a long road to arrive at the launch of my campaign. My family and I resisted crowdfunding for as long as we could, all too aware of the stigmatisation we might face. But each of my appeals for public aid were denied. The reasons for denial boiled down to “a lack of evidence of significant quality-of-life improvement for adult patients and/or patients on a respiratory ventilator.”

It was an excuse to dismiss me; one I knew was as common as it was false. I freelance as a columnist for SMA News Today, a US-based health news site committed to providing reliable information for SMA patients and healthcare providers. Some of my colleagues have SMA, and had their conditions stabilised by Risdiplam. My best friend, Brianna Albers, even documented her insurance company pulling the same stunt and her fight with them, and called them out on social media.

My family and healthcare team hoped that if I gathered articles on Risdiplam’s efficacy and testimonials from patients like me, the statistical and anecdotal evidence would eventually be undeniable. But one evening, as we were waiting for a response to our last appeal, my body collapsed. I didn’t have the strength to hold myself up anymore. It so happened that I was on a deadline for a huge mainstream games publication; I panicked and broke down. It was the same night Zayn was featured on the news, still fighting for his life.

Inspired by him and his parents, we contacted Ray of Hope (ROH), the crowdfunding platform that helped him, Devdan and Shamel. We met several times with ROH’s caseworkers and had to submit a ton of paperwork, including a recommendation for the drug from the National Neuroscience Institute. I then had to be assessed by a KKH team, as NNI—once again showing how inadequately prepared our healthcare system for rare disease patients is—didn’t have the expertise or ability to prescribe me Risdiplam. I tell you this not to elicit sympathy, but to emphasise that people with disabilities do not take the decision to crowdfund lightly and that it’s often a draining last resort.

Speaking of not taking things lightly—I’m happy to say that, as I was writing this essay, Risdiplam’s seller, Roche, saw my campaign’s momentum stall and contacted KKH with an offer to allow me a free 3-month trial of Risdiplam. I had my first dose on 27 May, and have already experienced improvements in my swallowing and speech, concretely proving the sceptical healthcare officials who denied me aid wrong.

This isn’t to say I absolve Roche of their role in this situation. Roche was the one that put the $375,000/per year price tag on my life and the lives of other SMA patients. But while it’s the purpose of a company to make a profit, it’s the purpose of a government to protect its citizens from predatory practices such as this. By the government’s estimate, there are only 40 to 50 SMA patients in Singapore; therefore, we have little to no bargaining power of our own.

Risdiplam was approved by the US FDA on 7 August 2020, just two days before our National Day celebrations. I hope that, when we’re reciting the pledge this year “to build a democratic society based on justice and equality, so as to achieve happiness, prosperity and progress for our nation,” you remember this essay and how far we’ve yet to go for our citizens with rare diseases.

Sherry Toh

If you'd like to contribute to Sherry's crowdfunding campaign, you can find the link here. You can also reach out to Sherry on social media: she uses the handle @sherlisass on Twitter and Instagram.