Eleven years ago, our family received news that would change our lives in a totally unexpected way. Our younger son Branden, then only one year old, was diagnosed with the rare genetic disease Spinal Muscular Atrophy (SMA).
The doctor told us that the disease was progressive and had no cure or treatment (then), and that our son was not expected to live for long. SMA is a leading genetic cause of death in infants due to progressive, debilitating muscle weakness.
It has been a very long journey, full of ups and downs, despair and joy, but Branden is still alive and doing relatively well today, although he requires 24 hours’ care physically from us (we have both given up our corporate jobs to become full-time caregivers and SMA activists).
Three life-changing treatments, including a gene therapy that is a cure if given before the child is two years old (Zolgensma by Novartis), have been developed and approved by the United States’ Food and Drug Administration for SMA during this time. One of them, Evrysdi (risdiplam) by Roche, is approved for use in Malaysia.
With a lot of lobbying by ourselves and other SMA activists, and the help of the Ministry of Health (MOH) and doctors, both Novartis and Roche have provided a small number of Malaysian SMA children with their treatments for free through their respective compassionate use programmes since 2020. Branden is one of the fortunate recipients.
And as we have seen for ourselves, the treatment outcomes are very meaningful and have a life-changing (and life-saving) impact on both patients and caregivers, providing them with a much better quality of life. Just imagine, these innovative medicines have the potential to enable babies who are treated early enough, to grow up as though they have no SMA!
However, such compassionate access is very limited in number and of limited duration. So, the treatment — which is lifelong when it comes to Evrysdi and Spinraza (nusinersen) by Biogen — can stop at any time if the government does not help to subsidise the treatment, which is extremely costly, and well beyond any family who are not millionaires.
Indeed, the Roche programme is no longer accepting new patients, while acceptance into the Novartis programme is by chance from a global pool of SMA patients (in other words, you have to be very, very lucky and “strike the lottery”, so to speak, to get in).
The fact is that the vast majority of SMA patients in Malaysia still have no access to these treatments and their health continues to progressively deteriorate. And unfortunately, the same fate probably awaits the estimated 50 SMA babies who are born every year in Malaysia.
This is not to say the government has not been doing anything for rare disease patients. Over the last decade of our rare disease journey, we have seen efforts by the MOH to address the high unmet needs of the rare disease community.
These include the establishment of a specific allocation for rare diseases in the Budget since 2018, forming a National Rare Disease Committee in 2019, hosting the APEC Virtual Policy Dialogue on Rare Diseases in Malaysia & the Asia-Pacific in 2021, and organising the National Workshop for Rare Diseases, which one of us participated in, recently.
We are also grateful to Health Minister Khairy Jamaluddin, who continued the expansion of the rare disease allocation in the 2022 Budget to RM20 million.
However, the truth is that the vast majority of the budget allocation is going towards the treatment of only one specific group of rare diseases, i.e. lysosomal storage diseases. There are 6,000 to 7,000 types of rare diseases, of which a few hundred have safe, effective and approved treatments.
And of course, we personally find it distressing that our local SMA community has not received any of this allocation for help with treatment, despite the fact that we too actively campaigned in Parliament for the allocation to be increased.
We understand that with the cost of rare disease treatments, even RM20 million won’t go very far. But what we are hoping for is equity, transparency and good governance in the disbursement of this allocation, so that the unmet needs within the rare disease community are managed as fairly as possible, compared to the current situation.
Firstly, there needs to be more clarity in how the RM20 million is allocated. Former Deputy Health Minister Dr Lee Boon Chye affirmed that the allocation is inclusive of all rare diseases.
With so many competing needs, it is important that the criteria used to decide who gets what and who is accountable for how the fund is disbursed is known to the relevant stakeholders.
Secondly, there needs to be more creative funding mechanisms by different stakeholders. One suggestion is for stakeholders to work together to establish a fund or platform that can leverage funds from the private sector and charitable donations.
The fund needs to be managed with good governance and be sustainable.
In order to ensure the sustainability of funding rare disease (or orphan) drugs, several initiatives need to be adopted more effectively. One is to encourage competitive pricing and negotiations.
This was successfully accomplished in China recently for Spinraza. The drug is sold at the exorbitant price of US$110,000 for a 5ml bottle in the US.
After seven rounds of negotiations between China’s National Healthcare Security Administration and Biogen, the price was reduced to US$5,178, which is over 95 per cent less than the original price. We understand that other countries have also managed to obtain a similar price, so could the MOH not do the same for Malaysia?
Regional cooperation procurement is another strategy previously mentioned by Health Director-General Noor Hisham Abdullah to help ensure the sustainability of health care costs. Perhaps we could also explore this possibility in the negotiation and procurement of rare disease drugs through the APEC Rare Disease Network.
We understand that with the ongoing Covid-19 pandemic, public resources are stretched even more. But children with rare diseases like SMA are still being born, living and dying from their conditions right now.
We and our families have been marginalised all this while, and we believe that the change needs to start somewhere (for some SMA families, even starting now is already too late).
On December 16, 2021, the United Nations adopted the first-ever UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families”. The Resolution goes beyond health and affirms that addressing the needs of people living with rare diseases is essential to advancing the 2030 Agenda for Sustainable Development.
This groundbreaking resolution was adopted by all 193 UN member states, including Malaysia.
Will this only be hype, or real hope for our children with rare diseases (our older son, Jaden, was diagnosed with another rare disease in 2020) and their friends in Malaysia?
As parents and activists, we choose to believe that there is hope if and when we change the way we do things. And not just within the MOH, but also within society to foster better understanding and support for people living with rare diseases in Malaysia.
Yap Sook Yee and Edmund Lim are Spinal Muscular Atrophy (SMA) activists and the founders of Persatuan WeCare Journey.
- This is the personal opinion of the writer or publication and does not necessarily represent the views of CodeBlue.