Patients affected by Fragile X syndrome display behavioral manifestations very similar to that of those affected by autism spectrum disorder (ASD), with extremely subtle differences that appear to be easy to miss if diagnosticians are not careful.
Like everyone else, Cindi Rogers and her husband, Chris, were clueless about what Fragile X syndrome was until their son, Jake, was diagnosed with it at two years old and they had no idea what it was. According to Cindi:
“In hindsight, Jake had all the symptoms. He didn’t walk until he was 17 months. He wasn’t saying any words. He had chronic ear infections.”
Jake was formally diagnosed with Fragile X syndrome after testing positive in a blood test specifically ordered to diagnose the disorder. Not long after he was diagnosed, his younger brother, Joe, was diagnosed with the same condition.
To confirm the doctor’s findings, other members of the family also underwent the same test, and it was later on found that Cindi, her mother, and her sister were all carriers of the genes responsible for Fragile X syndrome, but none of them show any manifestations of the disorder.
Dr. Nicole Tartaglia, a developmental-behavioral pediatrician and Fragile X expert at the the Children’s Hospital Colorado, has been seeing both Jake and Joe since 2007. She told that one in 250 females have the permutation.
With Fragile X the synapses in the brain are very weak, and do not “transmit information as quickly.” This can lead to “features of autism spectrum disorder, problems with hyperactivity, impulsive behavior, anxiety and a lot of sensory sensitivities.”
Jake and Joe are now in their 20s, but Dr. Tartaglia still continues to see them regularly. She said:
“A lot of the reason we follow them in their 20s and beyond is that there are not a lot of physicians or research that’s helping us track the trajectory of Fragile X over a lifespan.”
Both Jake and Joe are now currently employed in multiple part-time jobs, and their parents want nothing more than to share hope with others who are dealing with the same condition. According to Cindi:
“They are doing great… We like to travel around and show people that because people who have young children with Fragile X don’t have the perspective that it is going to get better. They have hopelessness, and we try to give them hope.”
Source: Kyle Dyer: 9 News.com: Fragile X: The most common genetic cause of autism