Aarushi Roperia Honors Biology Pierce Genetics Disease She pressed the child close to her and with an unmovable gaze tightened her grip on him, taking in every detail. I paused and watched. I knew that as soon as I told her, the same creamy white walls of the hospital room that once held her uncontrollable euphoria over the birth of her son, would seem harrowing and confining. "Ms. Garcia -", I started, "We've noticed a complication with your son." Her face fell, and I knew in that instant her mind went rampant, replaying over every illness she's ever heard of. "He tested positive for Type I Citrullinemia." I gave her a few seconds to process the situation. "It is a rare inherited disorder that affects about 1 in 57,000 people worldwide." A wave of panic washed over her face and her jaw had dropped as I spoke. "Ms. Garcia- are you following what I'm saying?" She spoke after a slight pause, "You said inherited, does that mean I have this?” I clarified, "This condition is inherited in an autosomal recessive pattern, meaning both you and your partner were carriers for Citrullinemia, but aren't really affected. However there is a 25% chance that if you and your partner have another kid, he or she will have Citrullinemia" "So what's wrong with him", she bluntly put. "Because of a rare mutation, he is missing a gene that is …show more content…
The exact prognosis for a child with Citrullinemia has not been well established, because it is very rare, so there a lot of gray area. Now, without treatment the longest the baby can survive is 17 days. But, with the help of medication, dialysis, and sticking to a strict diet regimen, we can really fight this thing. Unfortunately, regardless of treatment, your child will have significant mental and neurological deficiencies." Her brows furrowed as she placed her fingertips to her temple, she sighed, "I don't know if I can afford
This study involves a married couple who after two years of trying to conceive a child became
My mother’s first cousin doesn’t have any family’s history of genetic disorders, and neither does his wife’s. They have two sons and one daughter. Their first son who was healthy at birth has suffered brain damage and been
Mrs. Honor recorded outside of the door way for roughly five minutes. As she recorded, the infant continued to cry. Mrs. Honor thought to herself, “this
She was hiding her nervousness behind a smile. The doctor slightly lifted up her shirt and examined her belly. He put a big scanner machine over her stomach, and pressed the power button. The doctor warned her that she may experience an uncomfortable feeling while the machine is scanning. She nervously smiled and said “okay.” The doctor hovered the machine over her belly and pressed the button. Blythe felt a shoot of pain from her stomach down. She couldn’t explain it, and she didn’t know how to react, so she just sat their. “All done.” I’ll go look at the results.” said doctor Phoenix. My mom was scared. “This is it” She thought. Then the doctor came in. My dad told me that it was the most awkward silence ever. The doctor looked at both of them. He pulled out the papers. “The results of the DNA test shows that you, Blythe, are having a baby girl. She has blue eyes, and, most likely red hair. Blythe immediately started crying as if the entire world, and all of its beauty, had come to an
Gabby Gnaw has recently been diagnosed as an angelman syndrome patient. The mother was extremely worried that her son would not fit into the society and could not grow up to follow the “social norms” of the world today. So this began a series of panic for the mother. She frantically searched the internet for a possible cure to her son’s Angelman Syndrome, but alas there were no useful results. Gabriella Gnaw had her goals set on finding a “cure” for Angelman Syndrome so she begins to travel all over the United States visiting the top Neurologists, Pediatricians, and more at several different hospitals in hope of helping her young boy,
Thesis : Children’s genes should be left untouched unless there is something terribly wrong, such as a sickness or disease.
She screamed at the top of her lungs, I could visibly see her little uvula shaking in the back of her throat as she howled. Things people didn’t warn me about when you have a baby are the sounds I would hear coming from my infant while she is teething, trying to go to the bathroom or just plain unhappy. All of my friends and family conveniently left out how my heart would break not being able to help her in some cases. Kennedy had been teething for weeks; her gummy, little smile that melted my heart would soon be filled with tiny chiclet-looking teeth and being a breastfeeding mom would be that much more difficult.
While the mom was a carrier for the cystic fibrosis mutation, the father was not. The counselor of the soon to be parents now has to decide how to tell the couple of the non-paternity findings. Of those who responded to this situation 35 percent said that they would explain the risk of having a child with cystic fibrosis without mentioning the paternity issue. Another 35 percent said that the couple should be informed of the paternity issue. And finally 30 percent believe that only the mother should be informed of the paternity issue. In another instance genetic testing revealed that a woman inherited a trait which put her at a high risk for colon cancer, however the woman declined to share the information with her family. The genetic counselor in charge of her case is now put in a tough situation is she listens to the patient that patient’s family is at risk. However if she tells the family she breaks doctor-patient
Looking over to where Henry lay sleeping beside her on the bed, she longed to cuddle up beside him and shut the outside world away, but the mocker’s beckoning call stirred her to action. For months, she had dreaded this day coming; no mother should ever have to watch their child die. Rising slowly, she did not know if she had the strength to face what she knew she must.
“Approximately 4 million babies are born each year. ~4% with and genetic disease or major birth defect, ~1% with a chromosomal abnormality. Upwards of 20% of infant deaths are caused by birth defects or genetic conditions, and ~10% of all adults and 30% of children in hospitals are there due to genetically related problems.” (Matthews)
Her back arched off the table, trying desperately to suck air into her lungs. Michael plunged into Dakota again and again, she felt the table impact with the wall, jarring them both and heard him bark out an order to do as she was told, growling the words while he drilled into her so furiously she could scarcely string a coherent thought together let alone understand what he wanted from her. Her hands flew behind her head, bracing against the wall, her muscles flexed and trembling.
The baby's screams split the tense air of the royal chamber, drawing her mother's attention away from the human seer. Jensira watched from her place against the wall as the Queen crossed the room and scooped the baby up, murmuring quietly to her.
But then she had settled into the narrow cot and let Posy snuggle into her arms, her little face settling into her neck, and almost unbidden, tears had sprung into her eyes, as the sweet, almost milky scent of a young child clouded her.
She gasped, her hand coming to her mouth, the horror in her eyes almost comical. He might laugh, if he wasn’t fighting back the urge to cry. He remembered that day clearly. His father had dropped to his knees and begged for the doctor to look at his boy. Doctor Snider required payment first. He wouldn’t enter the house without payment. He’d looked down his nose at his father, his lip curling with disgust.
I remember she had taken a while to find us, but once she had, she gave a smile that lit up the room. Dani beamed back and I felt my cheeks grow tight, for it had been a while since any of us had reason to smile. Once with us, she amazed even kind-hearted Dani by sitting on our lap and leaning back against us, trusting us to keep her safe. It had been another reminder that she was still a child, still