Another victory story for another Pompe family. Yeah....This time it's in Sarawak. This family also has got 2 Pompe children. It's the story of a sister and a brother. The mother is a single parent. She is such a brave and loving mother, she takes up the whole responsibility even though it is such a tough one...
Both Bong's sibling were borned to be as normal & as healthy as any other kids. They had their mischiefs and were going to kindergarten as any other kids too. However, Mdm Bong noticed something was wrong with her elder girl. She started to show weakness on her lower limbs, she would fall down very easily and she started to get sick quite easily too. Soon, the younger brother also started to show similar symptom. Both their health condition deteriorate slowly.
Only after 2 years of finding the root cause (from 1 discipline to the others) that Mdm Bong was finally given a name for her two siblings. They were diagnosed to have Pompe (Glycogen Storage Type 2), a very rare inherited metabolic disease. This was not an easy moment, she almost collapsed as the doctor told her that her child might have an early death as compared to other kids. However, the doctor told her too that there is a group of scientist and doctors that are doing researches to come out the with humanised enzyme to treat the problem. That was in year 2001...
However, this family was not that lucky as the research target was on "Infant" group. They belonged to "Juvenile" group, they could not be taken in for human candidates for the enzyme trial runs. Even though they were diagnosed to have problem, nothing can be done except waiting. Their body started to deteriorate more rapidly that they finally lost the ability to walk & breath on their own.
Finally, after waiting for 6 solid years; they were finally given a second chance. They started on Enzyme Replacement Therapy (ERT) Jun 08. I am very sure if they follow the doctor's advice strictly, great improvement will be seen. Let's us all pray for them that they are going to have very positive response to Myozyme that one day they will be able to walk & breath like any other normal person. Their response is critical in deciding if the drug supply will be a continuous one...
Wrote in 14 Jul 2008
