A girl with a great sense of humour, Rachel Siew (right) with her mother, Sharon Soo at the launch of Rare Disease Day 2015 by Malaysian Lysosomal Diseases Association and Malaysian Rare Disorders Society.
Twenty seven year-old Rachel Siew is just like any other young adult in Malaysia.
She’s witty, goes on road trips, spends time online and catches up on the latest movies.
However, what sets her apart from the rest is the rare disease she lives with called Morquio Syndrome or also known as MPS IV A.
Siew, a law graduate, is just one of the many who grew up with a rare disease, caused by missing or malfunctioned enzymes in the body.
Their conditions have no cure and treatment is costly.
Two non-profit organisations representing the voice of patients and families affected by rare disorders have been working hard to get word out.
The Malaysia Lysosomal Disease Association (MLDA) and Malaysian Rare Disorder Society (MRDS) have set up exhibitions, organised fund raisers to widen its reach to the community in hopes to gain support and raise funds for the affected children in Malaysia.
For three-days, a special photo exhibition is currently being held at the ground floor of Empire Shopping Gallery where stories of patients living with a rare disease is shared.
The exhibition themed ‘World Through My Eye’ organised by the regional patient support group alliance, Rainbow Across Borders showcasing portraits of patients and their stories.
Together, MLDA and MRDS are inviting policy and industry makers, patients, caregivers, family and friends of millions of people who suffer from rare diseases, to join in, in support of Rare Disease Day, which is celebrated on the last day of February, every year.
Launching the event alongside Lee and MRDS president Hatijah Ayob was Subang Jaya assemblyman Hannah Yeoh who donated RM5,000 to each association.
MLDA president Lee Yee Seng said that the majority of rare disorders have very small patient populations but the organisation is positive there are more patients out there.
“Most people have not heard of rare diseases, let alone know the symptoms or understand the struggle and challenges that patients living with the disease face every day such as simply walking, eating, speaking or breathing.”
“This is an important campaign for us which aims to boost awareness to a wider audience mainly those who are not living with or directly affected by a rare disease, in making known the impact of rare diseases and the need for safe, new treatments."
“People living with a rare disease and their families are often isolated, thus we hope this campaign can help bring them out of the isolation as we work towards providing support and a brighter future for them,"he added.
Lee himself understands the painful journey as both his daughters also live with a rare disease known as Pompe.
Last year, the Health Ministry supported the association by donating RM2mil and this was used to offer seven children to undergo Enzyme Replacement Therapy for a year, of their lifelong journey.
However, due to economic downturn, they were informed MOH cannot continue to provide additional fund allocation for this year.
Darmash Subramaniam,16 from Mentakab, Pahang, who lives with the Hunter Syndrome (MPS II) is one of the recipients of the funds and has seen improvements since receiving treatment six months ago.
His mother, Sumathi Subramaniam said that improvements were visible from the first treatment.His fingers are no longer stiff but softer and is slowly gaining use to the functions of his fingers.
Without continuous funds, Darmash, will see their treatments halted and the outcome is like many others, do not know the outcome when their treatments stop after funds run out.
In Malaysia, there is no official definition for rare diseases but generally this has been taken as condition that strikes less than one in 4,000 people in the population.
It is simply termed as an uncommon disease but as Kuala Lumpur Hospital consultant paediatrician and clinical geneticist Dr. Ngu Lock Hock said, it is a genetic disease that affects children where access to diagnostics and treatment is difficult.
“Many have no cure because pharmaceutical companies are reluctant to invest in medicine to sell due to number of patients and because of this, treatment is expensive and many can’t afford it,” he said.
He said it is also a burden on families who have to travel a distance to seek treatment and meet doctors of many disciplines.
To support the campaign, the public are invited to attend the photo exhibition, which ends today (Feb 28) and tag #RareDiseaseDayMY in their posts to share what is happening for Rare Disease Day 2016 in Malaysia.
Additionally, supporters can visit www.rarediseaseday.org and upload their photo into photo frames to use as social media profile images to further help spread awareness.
For more information on how you can help as well as the details about photo exhibition visit MLDA or MRDA’s Facebook page
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