AAP News Vol. 14 No. 6 June 1998, p. 1
© 1998 American Academy of Pediatrics
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'Not an easy diagnosis to make': 50% of fragile X patients lack telltale signs

Carol Hart Ph.D.

Katie Clapp struggled to find an explanation for her son's developmental delays and troubling behavior.

"We had inklings very early on," she said, "but Andy was on the edge of normal. Then by the time he was 2, it was really clear." The family consulted a geneticist as well as other specialists, and many tests were done, but no one thought of fragile X syndrome.

It was not until Andy was 3 frac12 years old that they got the diagnosis — and then learned their baby girl also was positive for the mutation. Clapp is a founder and president of the FRAXA Research Foundation, which raises funds to support research into the disorder.