LETTER | Spinal muscular atrophy (SMA) is a degenerative disease that occurs in about 1 in 11,000 live births which means about one baby is born with SMA almost every week in Malaysia. About 1 in 50 people (globally) are carriers of the defective gene that causes SMA, or about 640,000 Malaysians.

SMA is the number one genetic cause of death for infants and affects the motor nerves resulting in muscle wasting and weakness. It is a progressive disease, robbing patients of their ability to sit, walk, run, and later to even breathe and eat.

On Dec 23, 2016, the US Food and Drug Administration approved the first-ever drug therapy for spinal muscular atrophy or SMA, called Spinraza (Nusinersen). Since then, the SMA community in Malaysia has watched as country after country approves the use of this drug, bringing heartening joy to the SMA families there.

In Malaysia, SMA families are still clinging on to the hope for similar approval to happen soon. For SMA patients, a day without treatment is another day of regression towards passing.

The SMA community and other rare diseases are often marginalised and burdened due to absent and poor implementation of policies relating to health, disability and insurance. Whilst patient groups strive to cover many gaps in required care and support, we face obvious limitations; for example in getting funding and manpower, our reach, and involvement in person-centred care.

All government agencies and ministries such as the Ministry of Health, Education, Welfare etc., should work together and with all stakeholders and patient groups; then the well-being of affected families can be dramatically improved.

Together we can press for and ensure there is proper access to information and training, services and equipment, and medicines and treatments – all of which are needed to better prevent, detect and respond to SMA and rare diseases.

Whilst many Malaysians still cannot afford to buy health insurance that they require, SMA patients are denied the right to buy any insurance coverage. Although there is a rare disease fund as in the 2018 Budget, it must be made more inclusive and expanded to include Spinraza.

Recently on May 21 at the World Health Assembly, Malaysia reiterated our commitment to universal health coverage leaving no-one behind. We urge the government to follow the World Health Organisation declaration made on Feb 28 which stated specifically that ‘leaving no one behind’ would also include people who suffer from rare diseases (also known as orphan diseases).

With over 7,000 different types affecting 1 in 10 people, rare diseases are a public health priority that needs a National Rare Disease Plan. The plan will require a multi-stakeholder approach and the government should consider supporting initiatives for translational research towards improving patient health outcomes.

We advocate for the establishment of a Rare Disease and Orphan Drug Act, which will be beneficial to families with SMA as well as other rare diseases.

We believe that Pakatan Harapan is the driving force needed in transforming the nation into a more mature and inclusive one.

We are encouraged that rare diseases are included in “Promise 9: Improve access to and quality of health services”, paving the way towards full equal opportunities for access to healthcare for families with SMA and rare diseases. We look forward to the Harapan government committing towards ‘Making Our Hope Real’.

The writers are parents of a child affected by SMA and are founders of Persatuan WeCareJourney that cares and supports families with SMA and disabilities. They can be contacted at [email protected]

Together with:

Siti Safura Jaapar, SMA patient and founder of Persatuan Spinal Muscular Atrophy Malaysia.
Dr Amar-Singh HSS, Senior Consultant Paediatrician, Advisor, National Early Childhood Intervention Council (NECIC).
Dr Ch’ng Gaik Siew, Clinical Geneticist & Paediatrician.
Dr Ling How Kee, Social Worker.
Dr Sharmina Kamal, Obstetrician and Gynaecologist.
Professor Dr Thong Meow Keong, Clinical Geneticist.
Associate Professor Dr Asrul Akmal Shafie, Health Economist, Universiti Sains Malaysia.
Jeans for Genes Malaysia.

The views expressed here are those of the author/contributor and do not necessarily represent the views of Malaysiakini.