Pompe Disease: A Rare Disease

 A Rare DiseaseAmong so many other common diseases, there exist many rare diseases as well; and those unlucky ones who become the victim of them feel that they are generally ignored and not given the effective treatment. In Australia, every year, one in 10 people suffers from a rare disease.

Today, February 29, 2012, is the Rare Diseases Day that has been specifically designed to raise awareness about the same among people. It is believed that this way people suffering from rare diseases would get better access to health care.

As estimated by the advocates of better healthcare for rare diseases sufferers, there is no doubt in saying that these disease are rare but even then when counted on a collective basis, these affect around 10% of the Australian population. This means that 2 million people including 400,000 children suffers from rare diseases.

There is rare disease known as Pompe disease which is a lethal genetic disorder. During this disorder the muscles of an individual gets wasted which further affects some of his vital organs. This disease was hardly known by anyone; even people in the medical profession were also unaware of it which made them give wrong treatment to the victims. Thanks to Helen Walker who is the president of Australian Pompe Association. She herself is a victim of this disease. As told by her to AAP it was a scuffle to gain recognition of the disease. "Things like giving a Pompe patient oxygen that can in fact kill them".

Ms. Walker told AAP that there was a treatment available for treating this disease but it was quite costly and therefore the Pharmaceutical Benefits Advisory Committee (PBAC) took a lot of time in deciding over its operation in 2011. Although in more than 50 other countries, this treatment was already approved.


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