Fragile X Syndrome
Is it Real?
Yes, fragile X syndrome is very real. Some famous people have it. Some people believe that the man to the right was one of the people was one of those who had the disease, though some people aren't as lucky as him. He can talk, walk, and understand mathematics, which leads some to deny that he has it. Many people who have it can't even do that! They have trouble doing the little things.
Symptoms include: mild to moderate autisticlike behavior (like avoidance of eye contact and hand flapping), shyness, sensory integration difficulties, attention deficits, hyperactivity, impulsivity, attention deficit disorder (ADD), attention deficit hyperactivity disorder (ADHD), depressed affect, anxiety, mental retardation (IQ typically 35-70), mathematical learning disabilities, aggressive tendencies, deficiency in abstract thinking, developmental delays after reaching early milestones (especially speech and language delays), and decreasing intelligence quotient (IQ) with increasing age.
Pes planus, pectus excavatum, joint laxity, scoliosis, and joint dislocation.
Affected individuals may manifest symptoms of reflux, vomiting, or both and, rarely, failure to gain weight during infancy and childhood. A minority of patients with fragile X syndrome demonstrate a Prader-Willi phenotype, which includes obesity due to severe hyperphagia.
Patients typically have delayed toilet training and frequent enuresis after toilet training.
Recurrent Nonspecific Medical Problems
Recurrent sinusitis, otisis media, and decreased visual acuity. During the history taking, ask about apnea.
Fragile X Syndrome. n.d. Web. 12 March 2012.
An Example of A Day in the Life
Hi, my name is Secret, and I have fragile X syndrome. This morning I woke up and realized that I had gone to the bathroom in my pants. My mom walked in, and the disappointment on her face made me want to apologize, but I can't. I can't talk. Fragile X syndrome sometimes causes mental retardation. I got lucky and didn't get that, but I ended up with autisticlike behavior that I can't control. I sometimes get heart murmurs, which cause seizures. I easily get dislocated joints. Almost whenever I eat, I throw it back up. I have to have people feed me, which is why I don't eat at school. I have mathematical learning disabilities. I have attention deficit disorder (ADD) and attention deficit hyperactivity disorder (ADHD). I get depressed easily. And my intelligence quotient ( IQ) will never get over 70 because my IQ will keep decreasing as I get older. Whenever I go to the store with my mom, because I can't walk, little kids ask their moms, "Why is that girl in a wheelchair, Mommy?" All I can do is silently cry and thank God that they don't have this syndrome. This is my daily life.
Today, when I got to school, my only friend was waiting for me. She helped me out of my car and wheeled me to my first class. I wish that I could thank her for all that she does, but I can't. She's the nicest person in the world. She doesn't care what other people think when they see her with me. When she sees people teasing me, she runs as fast as she can just to protect me. Anyway, back to my day. Ugh, my first class is math (I'm in 7th grade and I've retaken this class since kindergarten and I just keep getting worse), and my mind has gone blank. I don't understand a word the teacher is saying! Finally! The bell saves the day. My friend comes to pick me up and takes me to our secret spot where we spend nutrition and lunch. Finally school gets out and my friend wheels me out to my car. I wave good-bye, since that's all I can do.
At home, things never get better. My older brother is in high school and thinks he's all that because he's going to be graduating next year. At night, I can still hear them screaming at each other outside and I cry. Also, my older brother teases me and hates being seen with me when we drop him off at school. I sit right in front of the exit he gets out of, so if he sees his friends by the car, he ducks so they won't see him. When they see me, they point and laugh. When I cry because of that, they laugh even harder. This is the life I am forced to live at twelve years old.
Finally, it's dinner time. I'm starving and mom sets a small plate in front of me and feeds me slowly so that I don't throw up. All of a sudden, I start having a seizure, and my mom jumps up, quickly loads me up in the car, and rushes me to the hospital. I don't remember any of this, but my mom told me about it when I recovered. The doctors also told my mom that I had a dislocated joint and that they would have to fix it so that it didn't heal wrong. when they went to fix it, I opened my mouth and screamed. They stopped to give me a pain reliever, and then fixed the joint. It's thanks to doctors that I'm still alive today.
In conclusion, This was one day in my life, I am now a grown up and graduated high school with an F in math. Nobody teases me anymore because everyone that knew me in school knew what I had now, and understood why I had trouble. Whenever I see them, they wave and smile. I do the same back to them. Everyone that sees me frowns and keeps walking. Now I smile whenever a child sees me and asks their mom why I'm in a wheelchair. I know that they'll soon learn why I'm like this.
Athletes for a Cure
Autism Society of Greater Phoenix
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