Sometimes, it's those little things that can make a big difference. Take this "X," for example. Imagine scraping a fleck of ink off of it with a pin. Now imagine that character at one-millionth its size as a defective X chromosome. That unfathomably tiny defect, known as Fragile X, can make a huge difference in human life.
Rob and Carmen Ponder know that difference. After graduating from Georgia Tech and setting up their architectural firm in Norcross, they looked forward to having a family. But when their son, P.J., was born, they became concerned when he exhibited delayed development. A blood test revealed Fragile X Syndrome, the most common cause of inherited mental impairment. Carmen, through a blood test, discovered she was the carrier.
"The gene is carried by the mother, and the defectiveness increases from one generation to the next. There can be a family with no history of Fragile X Syndrome in which it suddenly appears," said Carmen, whose sister has a daughter studying at Harvard medical school and two Fragile X sons.
"When I heard the news, it was the worst day of my life," Carmen said. "The doctor listed all the things P.J. would never do. He even said he'd never smile."
The Ponders were depressed at first, but in time they discovered all the little things that could make a positive difference in their lives.
Rob, who'd been an Eagle Scout, started a Cub Scout den for special-needs boys.
"In his uniform, P.J. knew he was just like all the other Scouts," Carmen said.
The Ponders are particularly grateful to the Gwinnett school system for all its support. "At Hull Middle School, it was a team - the principal, the teachers, the counselors - who made his school experience such a success," Carmen said. "They treated these kids as individuals, and this year P.J. will be starting at Duluth High School with all his friends."
Another little thing that has enhanced P.J.'s life is starring in a movie. The video, created by Dr. Gwen Tatum and Chris Gegan at Hull Middle School, shows parents the little things they can do to help their special-needs children transition to middle school.
The video will be presented at the 10th Annual Fragile X Conference in Atlanta next weekend. The world's leading Fragile X researchers will be presenting new findings on the disorder. Though there is no cure, there are many little things parents and educators can do to help children with Fragile X Syndrome to lead more productive and more integrated lives (www.FragileX.org).
Carmen is especially excited about the awareness walk in Centennial Park at 4:30 p.m. Thursday. The Weather Channel's storm tracker Jim Cantore will lead the event, which will celebrate accomplishments by parents and professionals.
And one of the Ponders' big accomplishments? How about a picture of P.J. swimming with a dolphin? And smiling.
Susan Larson is a Lilburn resident. E-mail her at email@example.com.