PETALING JAYA: An alliance of individuals and organisations advocating for patients of Spinal Muscular Atrophy (SMA) has made a wish-list, appealing to health and related authorities to give more focus and rush much-needed medicines to those suffering from the disease.
The wish-list, commemorating Rare Disease Day which is on the last day of February every year, was presented by Siti Safura Jaapar and Edmund Lim of MySMA.
First on MySMA’s wish-list is an appeal to health and related authorities and those from relevant professions to give proper attention to rare diseases.
In a statement, the group said, “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.”
They are also appealing to all relevant authorities to tackle SMA and other rare diseases in a more holistic manner.
They said that besides prevention, early and accurate detection, and intervention as well as proper management and treatment, there is also the psychosocial aspect to consider.
The group said that society usually avoided families with rare diseases because of how it made the patient appear or behave, and because it is inborn and caused by the family’s genes.
“This adds a psychological and social burden, from shame and disgrace to misunderstanding and exclusion from society. Even unaffected siblings and relatives can get segregated.”
As such, MySMA said tackling this rare disease holistically would include aspects of education and work, including respite and palliative care for both patients and caregivers.
Last on MySMA’s wish-list was for paediatric neurologists to emulate their counterparts in over 40 countries, who fight passionately to obtain life-changing medicines for children suffering from SMA.
“We are encouraged that the Ministry of Health committed to expand and extend funds for rare disease last year, and with the Deputy Minister of Health acknowledging SMA in Parliament,” they said, adding that they were however “traumatised” that children suffering from SMA were still no closer to getting much-needed medicines.
“Time is running out, these children are deserving.”
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 from patient to patient suffering from the same disease.
Possibly one in 20 live with a rare disease and 50% of rare diseases affect children.
“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,” MySMA said.