The plight of patients of Rare Disorders in Singapore

11 08 2011

As part of the HTC Bloggers Social Responsibility Program I am participating in, I have been asked to raise awareness of Rare Disorders which afflict a very small group in our community. Because of the small numbers, there is a lack of awareness of these disorders which can sometimes result in patients not receiving timely and accurate diagnosis. In many cases, early intervention can provide patients with an opportunity to improve the quality of their lives as well as allow them to make a positive contribution towards society.

There are two young patients in Singapore with these rare disorders that deserve a mention. One, Chloe Mah, who is 21 months old, suffers from Pompe Disease. Pompe Disease is a genetic disease and one of a rare group of metabolic disorders referred to as Lysosomal Storage Disorders (LSDs). There is no known cure for the disease which weakens Chloe’s overall muscles including that of the heart, and only treatment in the form of enzyme replacement therapy (ERT) is available. The treatment which helps with improve the heart condition and the overall muscular function is not without risk and there is a possibility of side effects or the risk of her developing anti-bodies against the infused enzyme. The treatment is costly and is estimated at $300,000 per year. Chloe’s Story can be found at the following links:

1. Save Chloe
2. Pompe Disease Chloe Mah
3. $300,000-a-year therapy gives tot a chance to live (AsiaOne)

Another young patient with another form of LSD is 5 year old Aleksandr. Aleks, as he is called, wants to be a pilot, but suffers from Gaucher Disorder. It was during a routine checkup at 6 months that his paediatrician noticed that he had a lower than normal blood count and an enlarged spleen and liver. It wasn’t until some two and a hlaf years later that he was diagnosed with Gaucher Disorder which was virtually unknown in this part of the world. Aleks, based on a write-up provided by huis parents, is believed to be the first and only patient to be diagnosed with Gaucher Disorder in Singapore. Again as with Chloe, the only form of treatment is ERT with an enzyme known as Cerezyme produced by the pharmaceutical firm, Genzyme, the dosage fof which is based on the weight of the patient. Aleks who now weighs eighteen kilograms, requires four vials of Cerezyme for his treatment which is estimated to cost $150,000 annually.

To promote awareness of patients such as Chole and Aleks and the rare disorders that they suffer from, Chloe’s parents have set up the Rare Disorders Society (Singapore) or RDSS for short. The RDSS, which is HTC’s adopted Charity for the HTC LIKES Awards and upcoming fundraising activities, aims to bring to light these Rare Disorders in the hope that more can be done that will lead to early intervention and also to seek out funding from the government and other groups for LSD and Rare Disorders Society Singapore (RDSS) patients, and we can help by lending support to the fund raising activities, as well as liking the RDSS Facebook Page (http://www.facebook.com/RareDisordersSociety). One fund raising event that would be coming up soon would be the RDSS Piano Recital Charity Fundraiser which would be held on the 3rd of September at 7pm at the KK Hospital Auditorium, details of which can be found in the poster below.


About Lysosomal Storage Disorders:

All lysosomal storage disorders (LSDs) have a similar origin: a genetic (inherited) problem that causes a deficiency or malfunction of a particular enzyme in the body, so the enzyme cannot properly rid cells of waste material. There are no cures for most of the LSD and treatment is mostly symptomatic. However bone marrow transplantation and enzyme replacement therapy (ERT) have been tried with some success in some cases



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