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 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 family oriented and allows her to adjust her schedule as needed for Gus. Brian is a self-employed contractor. The family also used a wonderful childcare center that had Gus attended from just six weeks of age, until he turned thirteen. Brenda shares that “We were really lucky, because a lot of parents have trouble finding people who will do child care for kids with any type of handicap.” Now that Gus is older, his sister, Josee, stays with him during the summer while their parents are at work. She takes him out swimming, golfing, and doing other activities. The siblings are very close.
Last summer Gus was able to go to his first special needs summer camp for six days without his parents. It was a huge success, and he’s already been asking to go again this year.
Gus currently attends the local public middle school, and is in the special education room for his core classes: math and reading. He is mainstreamed into other classes such as physical education, (which is his favorite) art, and science with his peers.
Brenda enthuses that “This is a big thing because, Gus just loves being included with all his typical peers.” Like other kids his age, Gus loves technology. He enjoys Netflix, playing video games, and using his IPad. He’s hoping to get his own cell phone soon.
It can be extremely difficult to understand Gus if you aren’t with him regularly. He has a limited vocabulary of a couple of hundred words that he can physically say, but understands many more than he can actually express. He will pantomime with body language and gestures like the game charades, to get his messages across. The Slamas tried using a talking technology machine, where Gus could type in symbols for what he wants to say, but he got frustrated when the machine was limited and didn’t work the way he wanted it to. He knows that his peers don’t use machines like this, so he didn’t want to use it either. Brenda chuckles when she says that “Gus is very smart and knows that saying please, thank you, and sorry can get him just about anything he wants. He listens to everyone’s conversations and understands exactly what people are saying.
At this point, Gus has fewer medical appointments. While still a little shorter in stature and slimmer compared to most of his peers, he’s grown out of his ear infections and Brenda feels that for the last four years he’s been very healthy. His doctor has predicted that eventually he might reach 5’8” when full grown. Gus goes to a Fragile X clinic in Iowa City twice a year to see his developmental pediatrician, a pediatric neurologist once a year, and his developmental nutrition pediatrician once every three to six months, depending on how he’s doing. Gus is also participating in a clinical study in Chicago, IL. Brenda said there are at least twenty specialty clinics that care for kids with Fragile X and other rare conditions throughout the United States.
Due to his early intervention and help with physical therapy, Gus can skip, jump, run and ride a bike as well as his peers. His large motor skills are exactly where his peers are. He might be a little less coordinated, but he’s still acquiring new skills all the time. Brenda says that, “Fragile X kids don’t stop learning, they just learn at a slower pace.” Gus still can’t button a button, or tie his shoes, but the Slamas have no doubt that these skills will come in time, because Gus is still doing something new almost every day. In the past two months Gus has learned how to snap his fingers, something some people without any disabilities can’t do. Brenda says, “It’s the small things that we really appreciate and celebrate. We want Gus to live as independently as possible, so we’re always working on things and encouraging him.”
The Slamas were very proactive from the very beginning and quickly learned what they needed to know in order to be excellent advocates for Gus. Brenda advises “A lot of decisions are based on money, so unless you are there fighting for your child you’re not always going to get the best outcome. If you go into meetings educated about resources and accommodations that should be made available for your child, you are more likely to receive them.
In 2012, the Slamas started a Fragile X support group with two other families. They have also become very involved with The National Fragile X Foundation. There is a partner chapter for Iowa and South Dakota. Brenda has been a co-leader for that since 2012. The chapter has quarterly meetings, but there are other activities throughout the year. Every summer Brenda and Brian put on a Fragile X Golf tournament in Pocahontas, IA. A co-leader in Ankeny, IA. leads a special bicycle ride fundraiser they call, “Bike to X out Fragile X”. They also do conferences every other year at different locations in Iowa, and have family gatherings as an outlet for friendships to be formed.
Gus has done really well due to all the resources and therapy his parents have obtained for him. Brian and Brenda have asked themselves the personal question: if there was suddenly a cure found for Fragile X, would they want Gus to have it now? Brenda’s answer is emphatic, “Absolutely not! I don’t want him to change. I love him exactly the way he is.”
The Slamas mission is to raise awareness about Fragile X and to offer support for families with children with special needs. They have come full circle and Gus is still doing better and better!
