30 Dec '17, 9pm

Living with a rare disease: One mother's very special boy

Living with a rare disease: One mother's very special boy

My husband and I discovered we had something else in common this year, our fourth year of marriage - a bad copy of the same gene. The odds of this happening are low, considering that there are tens of thousands of genes in each of us. So my colleague's article on Dec 17 - coincidentally on my son's first birthday - on families whose children live with rare diseases, struck a chord. My son doesn't just take after my wavy hair and my husband's loud voice. He inherited two faulty copies of the same gene we had, giving him a condition known as bile acid synthesis disorder. It is an extremely rare condition. According to doctors, it affects around five out of a million children. Aside from its symptoms, little is known about its prognosis as there are fewer than 50 reported cases in international medical literature. And until my son, there has not been a reported case here. The...

Full article: http://www.straitstimes.com/opinion/living-with-a-rare-di...

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