Cystic Fibrosis

Sharon GeorgePD.3

• Cystic Fibrosis is inherited when the child inherits two mutated CFTR genes, one from each parent.

• The presence of two mutant genes is needed for Cystic Fibrosis to appear.

• It is a recessive trait, as the parents of a child with cystic fibrosis are free of cystic fibrosis

• Symptoms of Cystic Fibrosis:– salty taste to the skin, noticed when kissed as a child– Wheezing– Persistent cough– Repeated lung infections– Repeated sinus infections– Intestinal blockage, particularly in newborns

• About 30,000 children and adults have cystic fibrosis in the US. 70,000 world wide.

• About 1000 new cases are diagnosed each year• occurs most common among Caucasians of northern

European descent (1 in 2,500 births)• Occurs equally in females and males

• The average life span for a cystic fibrosis patient is 37.4 years

• There is no cure for cystic fibrosis– Doctors are unable to replace the gene that causes

CF or find a drug that can totally counteract the effects of the gene

• Common treatment for CF patients are– Airway clearance techniques– Medication to clear mucus from lungs– Prevention and management of infections– Proper nutrition

• It was found that families were not able to maintain the usual pattern of family relationships.

• Since a CF patient needs a lot of care (doctor’s vists, medication) the parents suffered from fatigue and large amounts of stress

• A CF patient needs a lot of care therefore, in a family with more than one child, the healthy “normal” child would sometimes be neglected.

Personally, I learned that cystic fibrosis is a cruel disease but not unmanageable. It’s victims are deprived of many aspects of a “normal” life, but in my opinion patients with CF can, in some ways, operate as “normally” as the rest of us. During the research I did for this project I’ve come to believe that cystic fibrosis is curable and that such a cure will soon be found.

WORKS CITEDo http://pediatrics.aappublications.org/cgi/content/abstract/79/2/

239

o http://www.nlm.nih.gov/medlineplus/tutorials/cysticfibrosis/id2

89104.pdf

o http://www.lungusa.org/assets/documents/publications/solddc-

chapters/cf.pdf

o http://www.cff.org/AboutCF/

o http://www.cff.org/AboutCF/Faqs/

o http://www.mayoclinic.com/health/cystic-fibrosis/DS00287/DSEC

TION=symptoms

o http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_signs.html