The current issue of Neurology Now contains a six page article explaining Fragile X syndrome, the history of Fragile X research and the current status of that research. Our very own Holly Roos is featured.
Holly Roos’ son, Parker, was not quite four years old, but Roos—who has a degree in early education—knew something was wrong. By his second birthday, Parker had never talked, only screamed. He couldn’t hold a fork or pick up a Cheerio between his fingers. By four, Parker only had a vocabulary of about 20 words; he still had significant fine motor delays, couldn’t draw a circle, and rarely used utensils because it was difficult. Parker couldn’t dress himself and wasn’t potty trained.
“But everyone we saw—the pediatrician, the developmental pediatrician—they all said he was fine,” Roos recalls. “They all stressed the fact that boys develop differently than girls.”
A few months later, Roos’ mother, Colleen Usrey, attended a genetics conference and came across an information booth on a condition called Fragile X syndrome (FXS). She knew right away that this was something Parker should be screened for. Roos insisted that her pediatrician order the genetic test for the disease, which showed that Parker had it…
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