You need to know some truths about spinal muscular atrophy and rare diseases in Malaysia — Siti Safura Jaapar, Edmund Lim

FEBRUARY 26 — Do you know that rare disease day is on the last day of February? Many of you may not be aware of how many patients and families are affected by rare diseases and their impact on Malaysia.

Do you know that having a rare disease is quite rare, but being at risk of developing it or passing it on to your children is actually quite common? 80 per cent of rare diseases are due to our genes i.e. patients are born with it and get it from their parents although their parents might not be affected by the disease and are only carriers. Others are the result of infections, allergies and environmental causes, or are degenerative and with malignant growth.

Society tends to avoid families with rare diseases because of how the rare disease makes the person look or behave, and because it is inborn and caused by the family’s genes. This adds psychological and social burden, from shame and disgrace to misunderstanding and exclusion from society. Even unaffected siblings and relatives can get segregated. The financial burden is very high, and most of the patients are denied insurance.

50 per cent of rare diseases affect children. Although a rare disease is any disease that affects a small percentage of the population, there are over 6,000 existing rare diseases characterised by a wide range of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Possibly one in 20 live with a rare disease.

A rare disease is typically disabling. The patient’s quality of life is affected by the lack or loss of independence due to the chronic and frequently life-threatening aspects of a rare disease, which keeps getting worse as each day passes. There are often no existing effective cures and this adds to the high level of pain and suffering endured by patients and their families.

The medical profession here may not be sufficiently equipped with the awareness, competency, and capacity with rare diseases. Therefore, relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment, and such cases left without proper follow up and diagnosis.

We urge:

  1. The health and related authorities and relevant professions to please pay proper attention to rare diseases. Take Spinal Muscular Atrophy or SMA – At least one child is born with SMA every two weeks in Malaysia and about 640,000 Malaysians are carriers but do not know they are.
  2. All relevant authorities to tackle SMA and rare diseases holistically. From its prevention; to early and accurate detection and intervention; to proper management and treatment. From healthcare to psychosocial, accessibility, education and work, to respite and palliative care – for the patient and caregivers alike.
  3. Paediatric neurologists to champion for their young SMA patients. To emulate their counterparts in 40 over countries who fight passionately hard for the children to get life-changing medicines. We are encouraged that the Ministry of Health is committed to expand and extend funds for the rare disease last year, and with the Deputy Minister of Health acknowledging SMA in Parliament. We are traumatised that the children are still no closer to getting much-needed medicines. Time is running out, these children are deserving.
  4. Although rare disease patients and their families face many challenges, enormous progress is being made every day. It only takes the passion, kindness, and commitment of all stakeholders to harness each other’s strengths to create an inclusive and equitable future. Let us all meet to work on solutions together.

** This is the personal opinion of the writer or publication and does not necessarily represent the views of Malay Mail