Rare Disorders Society

Occurring at a rate 1 in 40,000 births, rare disease patients are a minority of society.

Due to a lack of experience/resources, these newborns may not receive timely and accurate diagnosis. Delays in diagnosis or misdiagnosis may lead to serious complications, including disability and death. Sadly, in Singapore, most, if not all rare disease patients do not live past childhood. The main reason is the lack of funds for proper treatment.

One of the rare disease is Pompe Disease. This is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages. The only treatment for Pompe disease patients—ERT, helps to maintain normal heart function and improve muscle strength.

Without ERT, a patient has only 2-3 month to live, but with the fortnightly treatment, patients have the ability to live a normal life, just like any ordinary adult.

Recently, I went to KK hospital to see the kids receive their ERT treatment. It was a heart-wrenching affair, as the kids went through the painful 4-5 hour. Although the treatment is proven successful, it is very costly. Each treatment costs $300,000/year or $25,000/month, this is just not sustainable for the majority of families in Singapore.

I met Chloe, a 2 yr old girl going though the treatment. It was heart breaking to see a little toddler with tubes going through her nose and hands, and one large tube going down her throat. The only normality was the little pacifier she was sucking furiously for comfort. It reminded this parent, about the fragility of life.

If you would like to help the patients, you can donate to the “KK Hospital Health Endowment fund”. The patients will also be having a Piano Recital Charity Fundraiser to raise funds for the Endowment fund. Proceeds for the Endowment Fund do not just go to patient who suffer from this rare disorder, but also to other needy families as well!

If you are interested to support the Recital, tickets can be purchased at a minimum price of $50/=. Please call Kenneth at 9633 6393 or visit the Facebook page for more details.

You can also donate directly to the “KK Hospital Health Endowment Fund” by mailing your cheques to the hospital and indicated “RDSS Piano Recital” at the back of your cheques. More details are available in the poster above.

Many thanks to HTC for adopting the society and “The Right Spin” for the media support as well