NUR/427 personal impact paper

Topics: Cystic fibrosis, Pulmonology, Organ transplant Pages: 5 (1459 words) Published: October 1, 2013

Cystic Fibrosis: A Personal Impact
Carrie Minton
June 8th, 2013
Dr. Angela Lowery

Cystic Fibrosis: A Personal Impact
Isabel and Anabel Stenzel, identical twins, were born with the deadly chronic disease, Cystic Fibrosis. This disease has had a huge impact on their everyday quality of life as well as their family and friends. It is a daily fight and struggle. Not giving up and continuing to be proactive about caring for themselves is key to survival. At birth the doctor said they had 10 years to live. They are now 40 years old and have accomplished so much in their lives despite the difficulties of living with Cystic Fibrosis.

Cystic Fibrosis: The science
Cystic Fibrosis is a very progressive and chronic lung disease. Some people have it worse than others. Some are not diagnosed with it until later in life. It is more commonly diagnosed in the Caucasian population. Isabel and Anabel are half Japanese, from their mother, and half German, from their father. So it was very rare that their mother was a carrier of the recessive gene. Since their father was also a carrier, it lead to them acquiring Cystic Fibrosis. The most common autosomal recessive genetic disorder among Caucasians is Cystic Fibrosis (Scott, 2013). Nearly 5% of the population in the United States carries the defective CFTR gene (Scott, 2013). There is still a large number of the population that remain asymptomatic. Cystic Fibrosis has an effect on the exocrine glands, also known as the secretory glands (Scott, 2013). These glands are responsible for the production of mucus and sweat. That being said, Cystic Fibrosis has an impact on any body system or part that produces mucus or sweat. The disorder is a result of mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene that is located on chromosome seven (Scott, 2013). The chloride channel on the cell membrane has a mutation that impairs the cell’s ability to allow water and salt to transport through the cell properly which then causes thick mucus (Stenzel, 2012). These mutations are therefore the cause of defects in the production and function of the CFTR. The lungs are the organs most detrimentally affected by Cystic Fibrosis leading to congestion and ultimately lung failure. Digestion becomes challenging because the pancreas cannot deliver the digestive enzymes needed due to mucus clogging it up. People with Cystic Fibrosis have a lot of sinus problems as well. In men, the vas deferens are clogged with mucus and therefore 98% of men are infertile (Stenzel, 2012). Lastly, the sweat glands are also effected and end up having a high salt content in the sweat which can quickly lead to heat stroke (Stenzel, 2012).

Living with Cystic Fibrosis: Physical
Without vigilant care and attention, the prognosis of Cystic Fibrosis is not good. For the majority of their lives, living with Cystic Fibrosis has been an uphill battle. Ultimately, the end result of the progression of Cystic Fibrosis is lung transplantation. They were able to keep their own lungs for around 30 years. “Lung transplantation for patients with severely advanced cystic fibrosis lung disease may be a treatment option. The tissues of the transplanted lung do not develop cystic fibrosis; however, any other involved systems remain diseased. Between 120 and 150 patients with cystic fibrosis undergo lung transplantation each year with a 5-year survival rate of about 50%” (Scott, 2013). In order to even qualify for transplantation, it had to be proven that they were vigilant with caring for themselves and were consistent with treatments and medications. It has been around 10 years since they have had their double lung transplants. So they have beat those statistics as well. There were many days when one would want to skip a treatment or cut it short and the other was there to not allow it. They attribute their health and lives to having each other. Having up to five treatments a day, growing up, gets...

References: Stenzel, Isabel, & Stenzel, Anabel (2012, April 24). From sickness to health: A personal story of Cystic Fibrosis and lung transplantation [Video file]. Retrieved from YouTube website:
Scott, A. (2013, May/June). Cystic Fibrosis. Radiologic Technology, 84(5), 493-518.
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