Fragile X 2
The sterility of the atmosphere in the geneticist’s office unnerved Sara. She had expected it to smell of disinfectant and the office to be starkly white, but every aspect of the doctor and his demeanor suggested a nearly painful barrenness. Life could not exist very long here.Sara was there with her mother to find out whether she carried the genetic predisposition for Fragile X Syndrome, the malady that afflicted her older brother Dan since birth. Aside from making him physically disabled, it left him with the intellectual and emotional capabilities of a ten year old boy though he was twice that age. While Sara was perfectly normal, if not exceptionally intelligent, she could still have carried the genetic traits and passed it on to any male children she might have.
She had never liked doctor’s offices. They always suggested a loss of power and pain, both of which were waxing within her chest at the wait to find out whether her children would be healthy or... like Dan. She loved Dan with all her heart, but she couldn’t bear the thought that her future children might be like him. The thought of that made the pain well up until she thought she would burst, so she slid her rings on and off her thin, tan fingers until the aching ebbed.
She tried to pay attention to this rather robotic doctor who was trying his best to sound compassionate, but she just wanted all of this over. She had been waiting a month to find out the results of this blood test, and the doctor’s loquacious speech about the syndrome were too much for her. Finally, after what seemed like an hour to Sara, he announced casually that she was clear of the syndrome and so would her descendants be for many generations. As she and her mother got up to leave, the doctor coughed to get their attention and alert them that their was more. He began asking questions to Sara’s mother about Dan’s degree of retardation and the kind of medication and therapy he was on. Ever the compliant person when it came to an authority figure, Sara’s mother Linda answered the doctor’s questions to the best of her abilities.
Sara didn’t understand why the doctor was asking all of these questions, as he had read Sara’s and Dan’s medical files before this meeting. Forgetting herself she blurted out, “What is this all about? You know everything about Dan.”
To her surprise, the doctor smiled at her sheepishly, then turned to her mother. “The point to all of this is that there is a drug therapy that is being developed. It provides the key protein that is missing who’s lack causes Dan’s mental and physical impairment. If he had this protein, he would no longer suffer from Fragile X. His impairments would decrease if not disappear entirely. It’s all experimental, of course, but there is little to no danger that we have found so far. Do you believe you would like to enter Dan into this therapy?”
Linda, Sara’s mother, stared stunned. Dan could be a normal twenty year old, after having been different his entire life. It seemed to her that the walls began to softly glow in tune with the beating of her heart. She immediately declared that they would try the therapy, without consulting her husband or her daughter
