Living with Fragile X
By Jim Young
1 in 88
Those are the odds that a child in the United States is born with Autism or a related disorder, according to the latest estimate from the U.S. Centers for Disease Control and Prevention; and Fragile X is the most common known genetic cause of autism.
Both of Holly Roos’ children have Fragile X. Parker is an energetic and expressive 12 year old; and Allison, though possessing the same amount of youthful playfulness, displays much milder symptoms than her older brother. They play together like most brothers and sisters, enjoy the same cartoons on television, and even play the drums and video games together. Both are enrolled in a clinical trial of a drug to help treat Fragile X.
I introduced myself and right away Allison wanted to show me her room. It was pink and purple, with toys and princesses everywhere, much like many 9 year old girls. Parker was curious at first but soon just went about his routine. After Parker went to bed, I stayed up with Holly for a few more hours just to talk and learn about their story and where they are now. As a child, Parker started out developing normally but slowed when it came to his speech development. He has been on the clinical trial drug STX209 since he was 10.
Holly says it has given them all a life and let Parker out of a “box”. Before he joined the trial, he barely spoke. She told me that a couple of weeks into the trial drug, she had not see any noticeable changes until one day Parker broke a glass and said to her, “I am sorry Mom, I love you”. She cried because it was the first time she had heard those words from her son.
I spent the whole next day with them since they were home from school on break, and it was a non-stop day of activities. Coloring Easter eggs, biking, two trips to the tennis courts, basketball, a trip to the video store, playing on a trampoline…They have a very active life.
Finally, at 9pm, Parker kissed his mother goodnight and he went to bed. I packed up and started my four hour drive back home to Chicago. Holly invited me to come along for their visit at the Fragile X Clinic and Research Program at Rush University Medical Center a week later for a follow up examination and testing. Parker brought two of his favorite inflatable lawn ornaments (he owns about 40 of them), which he uses as a kind of “security blanket”. They filled the cramped examination room. Despite the lack of space they were a playful family; tickling each other and playing games.
Holly is one of the most caring, loving and patient people I have ever met. I was exhausted just watching them all together.
But Parker is not cured. The drugs are helping him but he still throws tantrums, he sometimes slaps at his mother and himself, and he yells when he gets frustrated. He is also an enthusiastic and happy boy, and surrounded by those who love him. Holly says it’s a long way from the days when Parker would leave huge bite marks when he would clamp down on her arms, which forced her to wear long sleeved shirts all year long to hide them. But Parker continues to improve and she is hopeful that there is a life ahead for her children.
I am hopeful too…
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