For many parents of children with rare diseases, the journey from discovering their child’s symptoms to finding a definite diagnosis is often long and arduous. Parents often go from doctor to doctor to figure out what is happening to their child, and because of the nature of these diseases, most doctors aren’t able to quickly pick up on the nature of the disease. But what if we can introduce screening policies to help detect some of these cases much earlier, even before the child shows symptoms? Ahead of Rare Disease Day (29 February), we speak to consultant paediatrician & clinical geneticist Prof Dr Thong Meow Keong, and genetic counsellor Yoon Sook Yee for their thoughts.

Image credit: Shutterstock

Produced by: Lim Sue Ann

Presented by: Lim Sue Ann

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Categories:  managing disease,  health policy,  medical advances

Tags:  raredisease,  heel prick test,  diagnostic odyssey,  the bigger picture,  health and living,  cord blood,  metabolic disease,  genetic disease,  genetic counsellors,