Isaac Cook Case Study

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“Are you a part of the 10%?” Visualize yourself in a doctor’s office anxiously waiting to see the doctor. You are uncertain what exactly is wrong, but you have seen the same symptoms in your grandmother, mother and even your siblings. Finally it is time to talk to the doctor, and you carefully explain to him or her how you have been feeling. The doctor looks at you, and then your mother and for some reason worry takes over your mother’s face. This is exactly what happened to 15-year-old Isaac Cook, before he was diagnosed with a Urea Cycle Disorder, a genetic disorder. As the doctor at UCLA explained that all Isaac Cook’s symptoms were completely aligned with the disorder, his mother said the doctor kept looking at her during the consultation. …show more content…
These symptoms may vary depending on the seriousness of the illness and type of disorder, but are overall exhausting to the patient. Symptoms to any type of genetic disease may develop with age. Mentally, patients may feel like a nuisance to their families, and worry about having children. Sometimes, victims of hereditary disease decide not to have children because they do not want to risk passing down the disorder. Also, individuals sometimes fear what their spouses may think when they talk to them about their disease, even if they are simply just a carrier. This causes the individual to be more secretive, and reserved. Experimental research shows that patients with serious hereditary diseases ask the doctor and family members to make any major decisions for them. For hereditary diseases, there is a lack of expertise on any specific illness because of the several thousand that exist, and low amount of research found on each type. Patients force themselves to become knowledgeable of their own disease through research, and reaching out to numerous doctors that can provide that individual with information of his or her own disease state. Overall, patients feel exhausted, worried, helpless, hopeless, and will do just about anything to be cured. Symptoms can vary considerably depending on the particular disease
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