2. Background Information
ò Female soccer player 18 years old
ò Established during PPE that she had several medications
that she was responsible for taking.
ò Discussed with her any problems that she experiences
with exercise
ò Has the gene mutation double deltaF508
ò One of 30,000 in the U.S. with the disease (primarily
affects Caucasians)
3. Sign and Symptoms
ò Salty tasting skin
ò Persistent coughing usually presenting with phlegm
ò Frequent lung infections
ò Poor growth
ò Chest tightness
ò Hemoptysis
4. Referral
ò She was in constant contact with a pulmonologist who
was cystic fibrosis specialist.
ò Also worked with a repiratory therapist that helped her
with lung function
ò Most of the time there could be four or five people
involved in the treatment of someone with cystic fibrosis
5. Diagnositic Test
ò Common test for those with Cystic Fibrosis are:
1. Sweat test looking for elevated sodium levels
2. Pulmonary function test to examine the lungs
3. To be sure they will do gene testing to identify which
gene has mutated (In my patient it was double
deltaF508)
6. Differential Diagnosis
ò Complex disease that is hard to diagnose due to several
other possiblilities
ò Sometimes with lung function test they will believe it is
asthma
ò If they are not growing they will look to see if it celiac
disease or diabetes
7. Treatment
ò Common medicines given to those are series of inhaled
medications to help prevent lung infections
ò Prescribe them with a take home vest that will “shake”
the patient to help break up the mucus. (My athlete says
for her this was a huge help)
ò They will have to supplement vitamins to make up for
decrease absorption ability of the digestive system
ò Treatment will vary from patient to patient
8. Prognosis
ò Unfortunately for patients with cystic fibrosis they do not
live a full life expectancy.
ò Previous estimations were 20-30 years old
ò New advancements and proper maintenece has pushed
the age up to 30-40 years old
ò Will vary from patient to patient depending on mutation
and environment and avaliablity of care
9. Prevention
ò Due the genetic cause of the disease there is no
preventing the disease from occuring
ò Patients with the disease need to have lifestyle changes
and maintain clean living environments
ò Following the routine prescribed by physicians and
health care providers can help slow down the disease
from progressing
ò If they get sick they need to be hospitalized to receive
what they call “tune-up”
10. My Athlete
ò Was part of new drug treatment called orkambi. It is
designed to help correct the wrong gene and lessen the
symptoms. Still not a cure though.
ò Had Type I diabetes that made managing her condition more
diffiucult
ò Benefited from being extremely active playing soccer, dirt
biking,
ò Had to monitor hydration status and pull them out for
extended rest periods when the heat became excessive.
ò Had to be hospitalized several times due to infections.