Our Personal Journey with Fragile X
by Lynda Rogers
At age thirty, my first child Jeffrey, was born. I was clueless and
nervous, and he was a demanding baby, but he met his
milestones early. At age two and a half, he announced he would
be driving a red Corvette to school! Our daughter Jessica was born a few years later. She was content, even sleeping through the night; however, as she grew, we noticed that she wasn’t developing as quickly as Jeffrey. She was often stubborn, and her speech had a nasal tone. Tubes were put in her ears after repeated ear infections, but it did not help. The ENT doctor speculated that her split uvula (pouch in back of throat) was a contributing factor and that this was the cause of the nasal sounding speech. My work schedule would not allow me to take Jessica to speech therapy, so I became trained to work with her at home.
Whenever I brought up my concerns, the pediatrician would remind me that Einstein did not talk until age five. I persisted, and at 2 1/2 Jessica was tested for developmental delay. She was determined to be six months behind and became eligible for school district services; however, she was not yet old enough for public preschool that fall. We thought daycare would help her with socialization, but she bit herself, pulled her hair, and scratched her arms. She seemed frustrated with things.
Jessica seemed to improve after attending public preschool. She had great memorization skills, but when she failed the placement for regular kindergarten at age five, we were distraught. She was receiving both occupational and speech therapy, and at a planning meeting involving all of Jessica’s therapists and teachers, the speech therapist mentioned Jessica’s behavior was similar to two clients she worked with that had Fragile X Syndrome. We took Jessica to a neurologist to investigate this possibility and he ordered a brain scan, reporting that Jessica’s ventricles were not developed and that she would have problems with math and other cognitive skills, but he never had her tested for Fragile X Syndrome. The speech therapist insisted that we needed to press the doctor to order the test for Fragile X, but the neurologist stated, “GIRLS DON’T HAVE FRAGILE X”. We had already spent a lot of money, but we persevered in requiring her to be tested. When the DNA results came back, it was confirmed. Jessica was diagnosed with Fragile X Syndrome! What a relief! We had a diagnosis and finally knew what we were dealing with. Jessica was five years old.
We then met with a geneticist for over three hours, who, as it turned out – gave us completely incorrect information on inheritance risks! I did extensive reading and investigation on my own after the consultation, and had discovered our son could indeed be at risk of being a carrier, although we had been otherwise advised by the geneticist. Jeffrey was tested, and fortunately, although the odds were 50/50 - he was not a carrier, but I was the one that had educated the geneticist, who did eventually reimburse us!Within weeks of Jessica’s diagnosis, we read an article about a twenty year old girl with Fragile X, and also watched a segment on Fragile X on the show, 48 Hours. What a God-send! The girl looked so much like Jessica! Of course, we were sponges: calling, reading, researching, and hunting for a support group. We now knew what to expect of Jessica and what we could change and improve, and what sadly we could not. She is now a lovely lady, and is very much what God intended us all to be like: trusting, genuine, un-materialistic, helpful, kind and caring. We still continue to seek ways to improve her life so she can be the best she can be.