I remember during the old days, when something unsual happens to the baby, our old folks will tell that (in malay language), "budak ni kenan ni..." True enough, "kenan" is a shortform for "keturunan". MPS IVA is an autosomal recessive disease whereby both parents must carry the same defective gene and each pass this same defective gene to their child. I just could not believe that me and my husband are carriers. Genes come in pairs whereby the good pair will be able to correct the defective one. Our first three kids must have inherit either both good pairs or one good and one bad but the bad one is corrected by the good pair. Sounds confusing isn't it? Well, just keep in mind that my two elder daughters and my son are all well and healthy. They could be carriers too and that force me to become a choosy mom-in-law; I'll have to make sure that their partners would be somebody who is really from a different background...
Will there be more? Certainly NO! Five is enough and besides I'm over the age limit already. It's now time to enjoy each others' company. As for life expectancy, less severly affected have been known to live into their fifties, sixties and even seventies. With medical advances and better management of the disease, life expectancy is improving. I heard that the doctors and scientists are working hard to find effective treatments for MPS IVA. Enzyme Replacement Therapy (ERT) for MPS IVA is being developed. Hopefully the ERT will be out soon before Adnin and Aqilah have to go for any major surgery like cervical fusion and so on...
Thursday, 12 June 2008
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