www 6500 redroses com The transition from childhood

www. 6500 redroses. com The transition from childhood to adulthood in patients with cystic fibrosis Hannah Strunk 21 February 2008

What is cystic fibrosis? • Cystic fibrosis (CF) is a chronic disease of the mucous and sweat glands in the body. • It is one of the most common recessive genetic disorders and fatal hereditary disorders seen in Caucasians. • US Prevalence: 30, 000 people • US Incidence: 1 in 3, 000 births

www. nhlbi. nih. gov Both Parents must be carriers of the CF Gene or actually have cystic fibrosis in order to pass it on to an offspring. Two parents who are carriers will have a 1 in 4 chance of having a child with the disease.

Pathophysiology • There is an abnormality in the cystic fibrosis transmembrane regulator gene (CFTR). • This gene controls the salt and water movement in the body. Therefore, dysfunction of the CFTR gene disrupts the homeostasis. • Atypical ion transport causes high sodium and chloride concentrations in the sweat. • The exocrine system produces mucous that is thick and sticky, causing problems in the lungs, pancreas, bowel, and reproductive organs. today. slac. stanford. edu

http: //www 3. nbnet. nb. ca/normap/cfpictures. htm Mucous in a healthy person vs. a person with CF

What are the complications? • The viscid mucous in the lungs cannot easily clear which can overinflate air sacs and reduce elasticity. Particles, such as bacteria, remain in the lungs and lead to infections. • Excess mucous blocking the pancreas creates an insufficiency in digestive enzymes necessary to absorb proteins, fats, carbohydrates, and other nutrients. Thus nutrients leave the body unused leaving the person malnourished. • Intestinal blockage can occur causing bowel obstruction. • Obstruction of the genitourinary tract leaves most men infertile. Abnormal hormone secretions disrupting ovulation and thickened cervical mucous render many females infertile.

Presentation • The signs and symptoms of cystic fibrosis vary depending upon the age of presentation. • Infants are commonly born with intestinal obstruction and jaundice. Within the first month of life pulmonary manifestations emerge followed by growth failure at 4 -6 weeks. • Children usually show respiratory problems, fatty stools, and failure to mature appropriately to their age • Adolescents/Adults have mild histories of respiratory infections and GI problems associated with malabsorption.

Diagnosis • Prenatally, direct mutation analysis by chorionic villus sampling is performed at 10 wks. • Newborn screening involves IRT assays with direct gene analysis as well. This is followed by the sweat test, the gold standard for CF diagnosis. • Children, adolescents, and adults use clinical features along with the sweat test for diagnosis. If the results are borderline, other assessments such as Nasal Potential Difference measurement, sinus X-ray, lung function studies, and sputum samples can be used as confirmation tests. www. wescor. com

Treatment • Antibiotics: oral for mild infections and inhaled (tobramycin) as an adjunct. IV for severe infections • Chest therapy 3 -4 times a day – Mechanical precursor, therapy vest, hand held flutter device, positive expiratory pressure mask • Breathing techniques • Consistent exercise • Anti-inflammatory drugs, mucous thinning drugs, bronchodilators, and pancreatic enzymes • Oxygen and eventual lung transplantation in some.

http: //www 3. nbnet. nb. ca/normap/oldcfpictures. htm 40 years ago…. A mother performing percussion therapy and a mist tent that CF patients used to sleep in to help their breathing.

goldbamboo. com www. sportslayne. com In 2008… http: //www. thebreathingroom. org/lg/lg_kb 01_picnic The top two pictures are examples of current breathing treatments for patients with CF. Both children are wearing therapy vests and the girl on the right also has on a mask nebulizer. The bottom left shows an adolescent patient with CF surrounded by her many medications.

What is the issue? • As a result of advanced screening techniques and continuously improving treatments for CF, more and more patients are living into adulthood. • This increased life expectancy brings new life stages for these patients and therefore new complications in terms of life adjustments.

Problems for the Aging CF patient: I. Psychological Aspects A. Ericson and development stages – Body, mind, culture – Each stage has a goal 1. Infancy/toddlers: Overcoming obstacles A patient with CF confronted with extreme obstacles at an early age may be less likely to develop strategies to deal with future life problems 2. Adolescents: Identity struggle This can be difficult for teenagers with CF because of their dependence on family to manage their disease. Lack of accomplishing a personal identity results in role confusion. 3. Young Adulthood: Intimacy Difficulty in creating satisfying relationships with others is seen in many CF patients too preoccupied with their illness to have time for others. This ultimately causes a person to isolate themselves completely.

I. Psychological Aspects B. Infertility: 98% of men with CF are infertile and 50% of women with CF are unable to bear children. 1. Gender Identity Fatherhood is to masculinity as motherhood is to contentment. 2. Worries of passing on disease to offspring Decision not to procreate leaves many couples feeling incomplete.

II. Transition of Care A. At Home - Many grow up only knowing how to deal with the disease along with a caregiver, which leaves them struggling without help later in life. - On the other hand, dysfunctional families may offer no direction and thus no foundation for healthy treatment regimens in the future. A. Professionally - Inadequate or lack of community adult care system - Not prepared for health insurance and finance changes

III. Inconvenience A. Therapies are time consuming – Teenagers would rather go to a football game or movie – Adults have busy schedules and do not have time or forget B. Privacy – College dorms – Work C. Absences – Teachers are not sympathetic to extending deadlines – Loss of Job D. Cystic Fibrosis Related Diabetes (CFRD) – Checking blood sugars and using insulin on top of CF therapy can push the patient over the edge

IV. Characteristic Age Behaviors A. Adolescents 1. Risky behavior - therapy and medications -sexual activity 2. Embarrassment -afterschool activities and sports B. Adults 1. Apathy to treatments -Noncompliance if improvements are not seen 2. Depression -Correlation between depressive symptoms and lung function

Possible Solutions: I. Screenings and Prevention A. Mental health care coverage -depression B. Infertility education -mentally prepared -sperm harvesting techniques C. Pregnancy monitoring - interdisciplinary team throughout pregnancy as well as after birth

II. Making a good transition A. Encouraging independence - establish a routine - make treatments as unproblematic as possible B. Organized professional system - medical summary transfer forms - communication between providers - individualize time of transfer

III. Education A. Finances -learn about insurance - estimate yearly costs of the disease B. The real world - University - Jobs with health coverage C. Maintenance, Medication use, and Exacerbation Prevention -glucose monitoring

IV. Support A. Expertise from older CF patients -question and answer sessions B. Public awareness -understanding in schools and work atmosphere

Summary • Cystic fibrosis is a prevalent chronic illness spanning childhood to adulthood. • Establishing adult care for older CF patients has been initiated and needs to be followed through with transitions between the two systems. • Problems with compliance need to be addressed in order to improve quality of life for people with CF.

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