WHEN DISEASE STRIKES FROM NOWHERE

摘要

When parents find that a child is not developing as expected, the protracted doctor visits, hospital stays and examinations only add to their distress - especially when no other family member has the condition and the standard tests on the child's blood and genes shed no light on the cause. The uncertainties, costs and anguish can be devastating to families, says Michael Friez, who directs the diagnostic laboratory at the Greenwood Genetic Center in South Carolina, a non-profit organization that analyses patients' genomes for clinicians. Every clinical geneticist has experienced the inability to identify the cause of a child's neurodevelopmental disorder, adds Roger Stevenson, a clinical geneticist also at the centre. In the early 2000s, he began seeing a family with a toddler that had severe developmental problems, including a smaller-than-average head and intellectual disability.