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| (Photo: Globe and Mail) |
How heartbroken parents when he saw his son was born with a rare congenital defect and make the child suffer for life. Andrew McFadyen who works as a teacher in Ontario is even willing to work hard to fund his research on the disease.
His son named Isaac McFadyen, who was born with a rare metabolic disorder called MPS VI. These conditions make Isaac had received injections of the drug every week, since she was 2 years old. But despite receiving regular injections of the drug, Isaac who is now 8 years old and still can not lead a normal life.
Isaac shorter than other children his age and his body has been stop growing. His hands continued to squeeze and loss of limb bones and joint mobility. He also had to undergo corneal transplant surgery and the high risk of heart disease.
MPS VI is an abbreviation of mucopolysaccharidosis VI which is a rare genetic disorder and is estimated just affect about 1,100 people worldwide. People born with MPS VI, its growth will be hampered, facial features irregular, limited movement, breathing problems and mostly require of heart valve operation.
MPS VI disease is similar to other MPS disorders, in which patients lack certain enzymes needed to break down long chains of sugar carbohydrates. So the sugar will accumulate in the body's cells and organs, causing some damage.
Because of his affection was so great to Isaac, McFadyen help fund a study conducted by researchers from the Mount Sinai Hospital in New York about the disease. The researchers then do an experimental treatment against rats with MPS VI, published in the online journal PLoS One January issue, as reported by the Globe and Mail, Tuesday (02/12/2013).
Rats showed significant health improvements after taking pentosan polysulfate, a type of anti-inflammatory drugs. But this disease is can not be cured completely, the drugs only help alleviate the suffering of patients only.
Unfortunately, experimental treatments that work in mice are often not effective in humans. Researchers need more MPS VI patients to know their effect, but because the disease is so rare that research on humans is still limited.
Until now, researchers are still trying to find other drugs are more effective to alleviate the condition of patients with MPS VI.
Source: Globe and Mail
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