www.6500redroses.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://www3.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 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://www3.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_kb01_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. Eric 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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