Fragile X
“Good news, Ms. Jones. You have tested negative as a carrier of Fragile X Syndrome. When you decide to have children, you have absolutely no reason to worry that they will be disabled. Now, if you wouldn’t mind, I would like to speak to your mother alone for a moment.”Sara Jones stepped out into the hallway. Weeks ago she was told by her mother that she might be a carrier of Fragile X Syndrome, a genetic abnormality that caused her older brother Dan to be mentally and physically disabled his entire life. She loved Dan with her whole heart, but she just couldn’t bear the thought that her children would be like that. He could never live a normal life and didn’t have the mental capacity to understand that, nor the emotional capacity to deal with it.
Sara did not really have to specifically worry about her future children, as she was only a freshman in college. Still, she had pictured what her children might look like when she did decide to have them and upon hearing her mother’s news, it was like her eventually children were kidnapped. She couldn’t wait a moment to find out whether she was a carrier and would afflict her male children with the malady.
Shortly after having been told by her mother, they scheduled an appointment with the geneticist as Vassar Brother’s Hospital. Sara was surprised to learn that their was actually a group of doctors that traveled to different hospitals to test those who might be carriers of genetic abnormalities. Unfortunately, this also meant that she had to wait several horrible weeks crying herself to sleep until they came back and could reveal to her that her genes were perfect. Sitting in the hallway, she was beaming. Her unborn children, who she silently named Alyssa and Thomas Three, were hers again. She imagined they were skipping around her in joy, singing a wordless song. They would be normal and grow up and have children of their own. Once they were born, of course.
Slowly it crept over her that her mother was still in the doctor’s office. What could they be talking about for so long? Maybe her genes weren’t as perfect as they told her. No, the doctor would have had to tell her. It’s the law, isn’t it?
She was about to put her ear to the door to try to hear what they were saying when her mother came out. She looked startled to Sara, but not necessarily upset. This served to confuse the already baffled Sara further. “What’s wrong, mom?”
Linda, her mother, looked up from the seat she had taken. “The doctor said... he said that there is this drug. A pill, I think. Plus therapy.” Seeing her daughter’s deep brown eyes start welling with tears, she realized how that must have sounded and continued. “No, not for you. For Dan.”
Sara tried to blink the tears out of her eyes. Though she sought further meaning in her mother’s face, she got none. Her mother seemed a million miles away in thought, a state she was shocked to see from her fairly docile and accepting mom. “Why does Dan need pills? And therapy. I mean, he already gets some physical therapy, you know? Is something wrong?” Her eyes began welling with tears of concern again. “Mom, it something wrong with Dan?”
Linda quickly tried to console her normally stoical daughter. “Nothing, really. The doctor said... you know how Dan is missing a protein that makes him... like her is?”
Sara nodded in understanding, though she didn’t really know. She researched Fragile X enough to worry herself further, but not so much that she could actually remember much. It made sense that he would be missing a protein. Summoning up what little she remembered from high school biology, she recalled that chromosomes need special proteins.
“Well, the doctor’s say that their is this new drug. It’s experimental. But, it could replace that protein. The one he’s missing.” Linda still lost in her thought and her mind was racing. She didn’t know what to do or say.
“So what would it do for him?”
“It would make him normal. Well pretty much. The doctors aren’t exactly sure what would happen, but it might
