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A Journey In Understanding Fragile X Syndrome vBy Aimee Huntley The Slama family are like many other families, busy trying to juggle work, family time, outside activities and everything in between. The Slamas are unique from many though, in that they often have additional plans, projects, and travels that are completely outside what the typical family experiences. Brian and Brenda Slama of Chamberlain, NE have two children: Josee, their seventeen-year old daughter, and their son, Gus, who just turned fifteen. The Slamas never heard about the medical condition Fragile X Syndrome, until they went through their personal odyssey of discovery with Gus. Brenda’s second pregnancy with Gus wasn’t much different than her first with Josee. There wasn’t anything out of the ordinary with Gus’ birth, except they noticed afterwards, that some of his toes were a little misaligned. Gus weighed nine pounds at birth, but quickly became underweight and was failing to thrive. At the age of two, Gus was in the second percentile on the growth chart. As a newborn, Gus slept almost all day. His parents had to wake him up every two hours to feed him, and it seemed like he couldn’t keep any milk down and vomited constantly. Gus was sick all the time, and had constant ear infections. This eventually required tubes to be put into his ears when he was ten months old. He was diagnosed with respiratory syncytial virus (RSV) at six weeks old. RSV is a major cause of respiratory illness in young children, typically contracted under the age of two years. It was suspected that food allergies might be the culprits for Gus’ digestive problems, and many different kinds of formulas were tried, but none of them seemed to help. The Slamas eventually learned that it was due to low muscle tone in Gus’ mouth that made it nearly impossible for him to eat, and exhausted to the point of being catatonic, which is why he slept all the time. Meanwhile, Gus’ pediatrician kept reassuring the family that Gus was fine, even though he wasn’t meeting any of the typical developmental milestones at his regular, well baby checkups. The doctor felt the family shouldn’t be concerned until Gus was a year old. Despite Karen’s growing concerns about Gus, the doctor reassured her that she was just “worrying too much.” Even at that one year appointment the doctor was still reluctant, and wanted the family to give Gus one more month. At thirteen months there still weren’t any noticeable positive changes, so the pediatrician felt it was now time for a specialist. Meanwhile, he ordered a gamut of diagnostic tests to be done, such as x-rays to check for hip dysplasia and lab work. All came back negative. A referral was made to a neurologist in Des Moines, IA, and a physical therapist. The therapist was recommended because Gus was still unable to crawl and was noticeably weak on his right side. At the very first appointment Brenda recalls the neurologist saying that, “there was only a fifty percent chance he would be able to figure 18vHERVOICEvJANUARY/FEBRUARY 2020 out what was wrong with Gus.” An MRI was done to check if Gus had suffered a stroke during birth. This came back normal. Gus was given an initial diagnosis of having global delays. Gus was then given twenty-five different genetic tests over a period of time. At one point, Brian and Brenda were misinformed by medical staff that Gus had a particular disorder that was progressive and ultimately fatal, only to receive a call back later that the diagnosis was wrong. It was an emotional roller coaster for the family that were desperate to find out what was wrong with their son. The Slamas were then told that Gus had an amino acid metabolic disorder, which required a different specialist in Iowa City. It was when Gus was twenty one months old, that a final and unexpected diagnosis was made. They were surprised to learn that Gus didn’t have a metabolic disease at all. The parents were alarmed when a panel of four doctors entered the exam room. They thought to themselves, “Wow, this can’t be good news.” Brenda says, “I still remember it like it happened yesterday, when the primary physician said, ‘We have good news and bad news. The good news is we know for sure what’s wrong with your son. The bad news is that there is no cure for it’.” That’s when the Slamas first heard the term Fragile X Syndrome. Brenda shares that the diagnosis was actually made very quickly for Gus, when compared to other children commonly diagnosed at older ages. According to the National Fragile X Foundation, “Fragile X Syndrome is an XY genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Symptoms include delays in talking, anxiety, and hyperactive behavior. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead, and flat feet. Therapy can be used to treat learning disabilities. Medications may be used to treat anxiety and mood disorders. Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females. It is relatively rare and there are fewer than 200,000 cases in the United States each year. People affected by Fragile X have a regular lifespan.” Fragile X is similar to other types of disorders in that there’s a spectrum or continuum, meaning there’s a wide variation in the range and type of symptoms experienced by the person with the disorder. Brenda feels that Gus is moderately affected by Fragile X. Gus has additional medical conditions that are common to Fragile X, such as limited language, ADHD, epilepsy, anxiety, sensory processing disorder, food aversions and physical delays in coordination. The family is blessed on two counts. Brenda has very good medical insurance and has been a sales manager for Positech, which is very

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