My husband was reading Malaysian news this morning over the Internet and came across the news about "penyakit jarang jumpa". According to the article, 1 out of 4,000 birth in Malaysia is having these diseases. Wow! That many? This is not rare anymore, isn't it? The kids' disease is one of the categories of the rare diseases, caused by metabolic disorders because of the lack of enzyme GALNS (is short).
In the article, Dr Juliana Lee admits that the treatment for this kind of diseases is very expensive. Adnin and Aqilah are lucky to be here. They are about to test the ERT for MPSIVA during the first quarter of 2009.
Actually we have met Juliana when we were there. She infact has invited us to join the rare disease group in Malaysia. When I go back, I sure will. After all, I can share the experience I have here with the UK MPS Society. It's a very strong organization and very influencial too.
Friday, 19 December 2008
Tuesday, 9 December 2008
Adnin is due for knee operation in January...
We had an appointment with the doctor at Queen's yesterday and Adnin's knee operation will be held on 27 January, 2009. The anesthetist met Adnin yesterday; asked her if she could move her head to the sides, up and down, open her jaw wide, and stick out her tongue. Adnin managed to do all these without any pain and it proved that her neck is stable and she is able to undergo the operation. They really have to be careful with Morquio kids on anesthetics as their windpipes could be small which could cause complications during operation.
The knee operation that Adnin will undergo, is called an eight-plate procedure. What is an eight-plate procedure? It's actually a small plate in the shape "8" that the doctor will screw it to the bone to depress the growth plate on the inner side of the knees (as Adnin is having knocked knees). It is hoped that by depressing the growth plate on one side, the other side will grow and the knees with get straight by themselves. After the eight-plate is implanted, she would need to be assessed every 3-months to see the improvement - her height hopefully will improve. Since she is due to receive the clinical test for the ERT, hopefully the 8-plate procedure would work and Adnin can have her straight legs! Usually it will take 6 - 18 months to see the effect. If it works, the eight-plate can definitely be taken out.
I read through on this 8-plate procedure over the internet, and it was a success. Just pray that it would work on Adnin.
The kids have appointments on the 29 Jan, 2009, to see whether they need wheelchairs. They will instead have the appointments on the 26 Jan, 2009 as Adnin might need it after the operation before she can fully walk again...
The knee operation that Adnin will undergo, is called an eight-plate procedure. What is an eight-plate procedure? It's actually a small plate in the shape "8" that the doctor will screw it to the bone to depress the growth plate on the inner side of the knees (as Adnin is having knocked knees). It is hoped that by depressing the growth plate on one side, the other side will grow and the knees with get straight by themselves. After the eight-plate is implanted, she would need to be assessed every 3-months to see the improvement - her height hopefully will improve. Since she is due to receive the clinical test for the ERT, hopefully the 8-plate procedure would work and Adnin can have her straight legs! Usually it will take 6 - 18 months to see the effect. If it works, the eight-plate can definitely be taken out.
I read through on this 8-plate procedure over the internet, and it was a success. Just pray that it would work on Adnin.
The kids have appointments on the 29 Jan, 2009, to see whether they need wheelchairs. They will instead have the appointments on the 26 Jan, 2009 as Adnin might need it after the operation before she can fully walk again...
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