Running head: REVERSE CASE STUDY 1

Name of the Student

Institution Affiliation
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Introduction

Cystic Fibrosis (CF) is a genetic disorder that affects the respiratory system such as lungs,

digestive system, sweat glands or even the reproductive system. The genes are responsible for

the transmission of this disorder from the parents to the children. This study is based on my

experiences and personal notes written in connection with my 5-year-old son who underwent a

series of steps in fighting the CF. My son Jacob was diagnosed with the disorder when he was 4

years old. It was a great concern for me as a devoted mother and in fact a challenge for all his

family members. His father had already died when he was just 2.5 years old, and therefore, as a

single mother, I took full responsibility in taking care of my lovely son. Due to the illness, his

siblings that include the 9-year-old Joseph and 6-year-old Marrisa felt his pain as they were very

close to him.
How the Patient was Diagnosed
Jacob became severly ill at the age of 4. He began by developing persistent coughs which

at times had phlegm and losing weight. I took him for examination at the nearest communitys

healthcare center. When I took Jacob to the healthcare centre, the doctor performed some

diagnosis. The diagnosis was done by testing the sweat for chloride levels. Jacob had a chloride

value of 64mmol/l. The doctor proceeded to order a genetic test. It is then that the doctor

concluded that Jacob had CF. The Cystic fibrosis was diagnosed at a very good time at the early

age of his life, and it was a very good time to take all the necessary steps to manage this disease
The majority of patients with CF are diagnosed within the first two years of life. A

chloride value of more than 60 mmol/l is considered to be indicative of CF. Normally, for a CF

test, the two tests done are genetic or carrier test and a sweat test. A doctor who sees the

symptoms of CF will order a sweat test and a genetic test to confirm the diagnosis ("Diagnosed

With Cystic Fibrosis", 2017).

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Cystic fibrosis shows different symptoms in children and adults that guide the medical

practitioners to diagnose it. Some of the symptoms of the disorder in the children include

respiratory problems, meconium ileum, loss of weight, very salty-tasting skin, wheezing or

shortness of breath, foul-smelling and greasy stools among others ("Diagnosed With Cystic

Fibrosis", 2017).
A sweat test measures the amount of salt in sweat. For this test, the doctor triggers

sweating on a small patch of skin on an arm or leg. He or she rubs the skin with a sweat-

producing chemical and then uses an electrode to provide a mild electrical current. This may

cause a tingling or warm feeling. Sweat is collected on a pad or paper and then analyzed. The

sweat test usually is done twice ("How Is Cystic Fibrosis Diagnosed? - NHLBI, NIH", 2017).
High salt levels confirm a diagnosis of CF. A sweat chloride test result of less than or

equal to 39 mmol/L in an infant over 6 months old probably means cystic fibrosis is very unlikely.

A result between 40 to 59 mmol/L does not give a clear diagnosis. Further testing is needed. If

the result is 60 mmol/L or greater, cystic fibrosis is present (test, 2017).

CF gene mutation testing may be used to follow up a positive initial test, such as an

elevated immunoreactive trypsinogen (IRT) or positive sweat chloride test, to confirm the

diagnosis of cystic fibrosis. The CF mutation panel can be used as part of prenatal testing to

determine whether prospective parents are carriers of a CF gene mutation and therefore at risk

of passing the gene mutation to future children.

The American College of Obstetricians and Gynecologists recommends that carrier

screening be made available to all women of reproductive age to identify couples at risk of

having a child with CF. This is typically done by sequential testing. In a sequential strategy, the

mother is usually tested first. If she is not a carrier, then any child she had would, at most, be a
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carrier from the father's side. Using this logic, the father is not tested ("CF Gene Mutations

Testing: The Test", 2017).

Other tests that can be done include The immunoreactive trypsinogen (IRT) test which is

a standard newborn screening test that checks for abnormal levels of the protein called IRT in

the blood. A high level of IRT may be a sign of cystic fibrosis. However, further testing is

required to confirm the diagnosis.

Sputum Test. During a sputum test, the doctor takes a sample of mucus. The sample

can confirm the presence of a lung infection. It can also show the types of germs that are

present and determine which antibiotics work best to treat them.

A chest X-ray is useful in revealing swelling in the lungs due to blockages in the

respiratory passageways.
A CT scan creates detailed images of the body by using a combination of X-rays taken

from many different directions. These images allows your doctor to view internal structures, such

as the liver and pancreas, making it easier to assess the extent of organ damage caused by

cystic fibrosis.
Pulmonary function tests (PFTs) determine whether your lungs are working properly. The

tests can help measure how much air can be inhaled or exhaled and how well the lungs

transport oxygen to the rest of the body. Any abnormalities in these functions may indicate cystic

fibrosis ("Cystic Fibrosis", 2017).

The Etiology of Patients Disease

According to the health provider and CF specialist who diagnosed the disease, it was

possibly due to the inheritance of a CF genes from the mother and the father who were carriers

(Ramos, Somayaji, Lease, Goss, & Aitken, 2017). As a mother, my CF gene mutation testing

showed that I was a carrier. Jacob could have inherited the genes from me. In addition, Jacob's
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father had been suffering from lungs infection before his death. However, his infection was

detected in its early stages and was managed in an appropriate manner.

The Pathophysiology of Patients Disease
The diagnosis follow-up reveals some technical details and pathophysiological aspects

associated with its treatment. The primary concern in CF case is Cystic Fibrosis Transmembrane

Conductance Regulator (CFTR) which an abdominal cell protein. The CFTR facilitates the

formation of the protein that serves as main channel existing between the membranes of various

body cells. Its deficiency may result in protein's dysfunctionality as indicated in the particular

case of Jacob. Similarly, the immune system of CF patient also gets affected as OSCN's standard

productions stop to occur regularly. (European Medicines Agency Pre-authorisation Evaluation

of Medicines for Human Use, 2009). The bacteria existing in the lungs are favored by conditions

to remain hidden from body's immune system, and it becomes the main cause of repeated

infections in lungs of the patient. These bacteria include Staphylococcus aureus that causes

pneumonia. Pseudomonas aeruginosa, the principle bacteria responsible for lung injury in CF

patients . Burkholderia cepacia, a complex family of bacteria that cause a chronic bacterial

infection of the lungs associated with a more rapid decline in lung function (Science of cf,

2017). http://www.hopkinscf.org/what-is-cf-teen/science-of-cf-teen/lung-problems-

teen/bacteria-teen/
The medical providers often recommend that during the treatment, CF patients should

remain in a healthy psychological and mental state and consider CF as part of life. As a result,

Jacob has to go to school and involve in all activities as his other friends do to remain

psychologically upright and in a better state of mind. This attitude will help the patient to

understand how he can deal with the disease by adopting a positive and proactive response

generated by the patient. Jacob is also instructed to carry aerobic exercise such as jogging,

running biking et cetrea. the benefits of exercise in patients with cystic fibrosis include increased
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exercise tolerance, respiratory muscle endurance and sputum expectoration, reduced residual

volume and rate of decline in pulmonary function, improvements in fluid balance and retention

of serum electrolytes. Jacob also goes through the Chest Physical Therapy (CPT) to further

facilitate the lungs operation.

Manual chest physical therapy (CPT) is the traditional airway clearance technique for

Cystic Fibrosis (CF) patients. The removal of obstructive, thick sticky secretions is important in

preventing infections and helps ease breathing. Manual chest physiotherapy consists of two

parts which are Postural drainage and Percussion and vibration ("Cystic Fibrosis (CF)

Treatment: Manual Chest Physiotherapy", 2017).

Postural Drainage
Postural drainage pertains to placing the body in a position which allows the mucus to

drain from the smaller airways into the main airway with gravity. Two positions are in an upright

sitting position and four positions are with the head tilted below the lungs. To obtain the head-

down positions, the use of a pillow, a bean bag chair or couch cushions works well.
Percussion and Vibration
Percussion and vibration help loosen and mobilize secretions. Percussion is a repetitive

tapping on the designated position and can be done with palm cups (of varying sizes), by hand

or with a manual percussor.

As infants grow it may become more challenging for them to cooperate with manual

chest physiotherapy. In such a situation, it helps to make therapy time a special time. This can be

done with a toy, watching a video, or a sticker reward. Keep these times special by only giving

them with cooperation of therapy and not allowing them to be used any other time.
Generally, each treatment session can last between 20 to 40 minutes. CPT is best done

before meals or one-and-a-half to two hours after eating, to decrease the chance of vomiting.

("Chest Physical Therapy", 2017)

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If Jacob feels hard in carrying the CPT, then the medical practitioner recommends using

electronic devices to conduct it. The parts of the body most affected by cystic fibrosis are the

sweat glands, respiratory system, digestive system and reproductive system. Cystic fibrosis does

not, however, effect the brain and nervous system. A child's ability to learn is not altered by

having cystic fibrosis. Children with cystic fibrosis may be teased or picked on at school because

of their persistent cough and the fact that they may be underweight and small for their age; in

addition, they may find it embarrassing to takecapsules and tablets with their meals("Cystic

Fibrosis Trust - Publications", 2017). The combined effect of these factors lower the self esteem

of children in most cases. Such children need counselling and care. Treatments are available to

take care of symptoms in affected systems.

The Care Plan Developed by the Physician, Nurse, and Patient

The primary goals of CF treatment include the following:

Maintaining lung function as near to normal as possible by controlling respiratory
infection and clearing airways of mucus
Administering nutritional therapy (ie, enzyme supplements, multivitamin and mineral
supplements) to maintain adequate growth
Managing complications
Treatment plans help people with cystic fibrosis maintain their health so they can live
longer, more fulfilling lives. Although every treatment plan is unique, comprehensive CF
treatment plans usually include quarterly visits to a CF care center and the following
components: airway clearance techniques; oral, inhaled and nebulized medications; nutrition
therapies; and a fitness plan.
The nursing care plan developed during the treatment was used for two diagnoses, that is,

ineffective airway clearance and altering nutritions less than the body requirement. Since Jacob

could not properly remove the mucus in the breathing system, the nurse provided aerosol therapy

3 to 4 times a day. He was placed under postural drainage and provided with a mucolytic agent to

enhance his breathing system (Ramos et al., 2017). I was advised to feed the boy a high calorie,

high protein, and moderate fat diet. I was also to supplement his meals with vitamins A, D, E,
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and K. The physician recommended that the temperature of my house should always remain

below 720F. CF patients living in areas with warmer annual temperatures have a higher

prevalence of and an earlier age of acquisition of P. Aeruginosa (Collaco et al., 2017).

As part of the care plan, the physician advised me to encourage Jacob to carry out light

physical exercises as frequent as possible. Jacob would, therefore, participate in children's games

every evening after school. The entire family came out to support him by offering him some

company during the exercises and showing concern to him as part of us. At school, the school

nurse was devoted to check on Jacob and provide him with the prescribed drugs at the right time.

I made the weekly visits to the medical health center where the nurse and the physician took the

data on the progressing and advised on other care plans like maintaining hygiene. As a mother, I

met many challenges in balancing between work and school on a daily basis. I had to saccrifice

some of my duties just to ensure that my son correctly underwent through his medication.
The Prescribe Medication and the Experience of Using Them
Medicines for cystic fibrosis help keep the lungs as healthy as possible, reduce and control

mucus in the lungs, and replace digestive enzymes.

Medicine choices
Medicines to treat infections
Antibiotics (such as ciprofloxacin and tobramycin)
Medicines to open airways in the lungs or keep them open. Inhaled antibiotics should be taken

last, after bronchodilators (if you take them), mucus thinners and airway clearance techniques,

so your lungs will be as clear of mucus as possible. This allows the antibiotics to reach deep into

the lungs to treat the bacteria that cause infection. Inhaled antibiotics can be taken by

Aztreonam can be given to people ages 7 and older who have P. aeruginosa. People taking

aztreonam should take one single-dose vial three times per day with a recommended nebulizer.
Tobramycin inhalation solution and tobramycin inhalation powder should be taken by people

ages 6 and older who have P. aeruginosa.

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As the antibiotics work to break up the mucus, coughing may increase, which is why some

people feel worse before they feel better.

Bronchodilators (such as albuterol or salmeterol), which are used to make breathing easier.

They may also make it easier to cough up mucus.

Bronchodilators can have side effects such as:
Nervous or shaky feeling, Increased heart rate or palpitations, Upset stomach, Trouble sleeping,

Muscle aches or cramps, Anticholinergics (such as Atrovent).

Medicines to control the amount and thickness of mucus
DNase (such as Pulmozyme). It is used to thin mucus in the lungs.
Mucolytics (such as acetylcysteine), to thin mucus in the lungs and the intestines. These aren't

used very much, though, because they can irritate the lungs.
Saltwater solution (hypertonic saline). This is sometimes used to help clear mucus from the

lungs. It is low-cost, and it may help reduce inflammation in the airways.

Medicines to reduce inflammation
Nonsteroidal anti-inflammatory drugs (NSAIDs) (such as ibuprofen)
NSAIDs help with pain and fever. They can also help reduce swelling and inflammation caused

by an injury or a disease. NSAIDs can make certain serious conditions more likely, such as:
Stomach problems, especially in older adults. These problems include stomach or intestinal

bleeding.
Heart attack and stroke. This is especially true if you have heart disease or risk factors for heart

disease. This risk may be higher if you use NSAIDs for a long time or use higher doses of an

NSAID.
A sudden kidney problem called acute kidney injury.
NSAIDs can make certain health problems worse, such as heart failure and kidney disease.
If you are using over-the-counter NSAIDs, don't use them for longer than 10 days without talking

to your doctor.
Some people notice an upset stomach or heartburn when they take NSAIDs.
Membrane stabilizers (such as cromolyn)
Corticosteroids (such as fluticasone or prednisone)
Medicines to replace the effect of digestive enzymes
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Enzyme replacement therapy (such as Creon or Pancreaze)

The medications prescribed initially involved usage of antibiotics and other supportive

medicines that help in treating the lung infections and reducing the swelling. However, later on,

the second CF specialist prescribed to abandon the antibiotics because of the age factor of the

child. My son, Jacob, also attended the chest physiotherapy (CPT). The therapist, who was the

physician, directly removed the mucus from his breathing passages. He was lightly tapped on the

chest, back, and the area under the arms. The medical practitioner, as recommended, performed

the CPT for about 20 minutes (Farrell et al., 2017). During the process, my son experienced pain

and a low self-esteem as he did not feel like a part of the family. The physician, however, at

times, encouraged blowing or coughing games during the CPT to make the process easier and

comfortable to Jacob.
Alternative therapies used by patient
Because of the sudden loss of weight of Jacob, the medical practioner advised Jacob to

be taking high fat diet and dietary supplements to keep him strong. He highlighted that body

weight and lung functioning are directly related and as such Eating well is key to living healthier

with cystic fibrosis.

The medical practioner continued to highlight that Jacob will change his medication in

the as he gets older. This is because the symptoms and impact of the condition change over

time. As the form of the condition changes, and as other complications arise Jacob may have to

alter your physiotherapy regime and other treatments. For example, if osteoporosis develops,

percussion may not be suitable as the bones are too vulnerable.

He also advised that part of growing up with CF is the transition from paediatric care to

an adult CF service. In becoming more responsible for care and treatments, Jacob will learn the
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skills needed to manage adult life and get the most from activities such as employment, going

away to college, or living with a partner.

The Patients Perspective About Living With the Condition 24-hours Per Day

Jacobs routine life has been directly affected by the genetic disorder that makes him be at

home as he obtains the appropriate medication. The teachers must reallocate him at a special

desk during class time. The boy developed some guilt and stigma, as he cannot comfortably play

with his friends. His friends who had always visited him are scared away and only sympathize

with his condition. The primary problem arose when Jacob felt that this is a non-curable disease

and he has to live with it throughout his life. In the early stages of diagnosis, I tried to hide this

fact from Jacob and tried my best to consult with his physician on the discussion of any

possibility of it being 100 percent curable. When he imagines that the disorder is permanent, my

son will fail to eat and never converse with his siblings as he used to do. Jacob who loved people

currently likes to stay at home alone or with me.

The Perspective of the Family Members
As a family, we have always stood by Jacob during this time of an endless war. I have

always worked hard to ensure that my family meets the basic needs, that is, food, clothing, and

suitable housing. My children have always been in school because I maintained their school.

None of them would be sent back home for school feels. I would take them on a bi-weekly trip

visiting a variety of national parks and game reserves. However, since medical practitioner

diagnosed Jacob with cystic fibrosis, life has changed tremendously. I spend much on my salary

on medication. I cannot afford to take out the family for even a monthly trip. However, it is my

pleasure and gratitude to God who has walked with me in ensuring that my children never sleep

with hungry.
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What Their Expectations Are And What Patient Have Been Told By Nurses And Other

Providers

The expectations of the family members were that Jacobs condition would improve after

about two days into medication. However, there was no significant improvement in his overall

health condition. The nurses ansd other providers assured that the healt would improve slowly

and encouraged him to continue with the medication procedures accordingly. The healthcare

provider recommended and referred to acquiring services of a respiratory therapist on a

continuous basis.
What their Fears and Hopes Are, and What is Likely to Happen
The medical practitioners provided a prognosis about some of the positive outcomes of

CF treatment in the case of Jacob. He suggested that little Jacob may survive this fatal disease

and become a case to remember in the entire medical history. However, there is the higher

probability of occurrence of the adverse consequences and threats associated with the

patient's life until he grows and learns how to manage CF disease. Normally, people with

cystic fibrosis live longer into adulthood, they are encountering new challenges and issues. Some

of the issues that Jacob might develop as he gets older are different from those he may have

faced in the earlier years. Over time the burden of care will increase, and he is likely to be taking

more medicines and receiving more treatments. This can also have an impact on partners or

family members as they may take on more caring roles.

Managing CF while coping with work and relationships can prove to be an additional challenge.

According to research, both men and women who have CF can enjoy a normal sex life, but
around 98% of men are infertile because the tube that carries sperm from the testis to the penis
(the vas deferens), does not develop properly. Men with fertility problems can try a specialised
form of IVF called intracytoplasmic sperm injection (ICSI), where a sperm is collected and
injected into your partners egg.
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In women, the onset of puberty is often delayed by one or two years. Most girls with CF have
normal menstrual cycles after this, but there is a higher chance of missed or irregular periods
and amenorrhoea (the absence of menstrual periods in a woman of reproductive age). This is
most likely to happen if you have a reduced percentage of body fat. The majority of women who
have cystic fibrosis can become pregnant without any difficulty. Female fertility problems in
cystic fibrosis are tackled in the same way as for other women. Jacob can hence be able to get
children of his own.
Cystic fibrosis is still a life-shortening illness, and facing the loss of a friend or loved one can be
hard.
As family members, the shield we have to fight against this disease is prayers and

following the instructions of the nurse and the physician. We hope that all will be well and Jacob

will live to achieve his lifetime dreams.

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References

Farrell, P. M., & White, T. B. (2017). Introduction to Cystic fibrosis foundation consensus

guidelines for diagnosis of cystic fibrosis. The Journal of Pediatrics,181.

doi:10.1016/j.jpeds.2016.09.062

Ramos, K. J., Somayaji, R., Lease, E. D., Goss, C. H., & Aitken, M. L. (2017). Cystic fibrosis

physicians perspectives on the timing of referral for lung transplant evaluation: a survey

of physicians in the United States. BMC Pulmonary Medicine,17(1). doi:10.1186/s12890-

017-0367-9

CF Gene Mutations Testing: The Test. (2017). Labtestsonline.org. Retrieved 11 February 2017,
from https://labtestsonline.org/understanding/analytes/cf-gene/tab/test/

Chest Physical Therapy. (2017). Cff.org. Retrieved 11 February 2017, from

https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Airway-Clearance/Chest-Physical-
Therapy/

Collaco, J., McGready, J., Green, D., Naughton, K., Watson, C., & Shields, T. et al.
(2017). Effect of Temperature on Cystic Fibrosis Lung Disease and Infections: A Replicated
Cohort Study.

Cystic Fibrosis. (2017). Healthline. Retrieved 11 February 2017, from

http://www.healthline.com/health/cystic-fibrosis

Cystic Fibrosis (CF) Treatment: Manual Chest Physiotherapy. (2017). UWHealthkids.org.

Retrieved 11 February 2017, from http://www.uwhealthkids.org/cf-center/cystic-fibrosis-cf-
treatment-manual-chest-physiotherapy/34308

Cystic Fibrosis Trust - Publications. (2017). Cysticfibrosis.org.uk. Retrieved 11 February 2017,

from https://www.cysticfibrosis.org.uk/publications

Diagnosed With Cystic Fibrosis. (2017). Cff.org. Retrieved 11 February 2017, from
https://www.cff.org/What-is-CF/Diagnosed-With-Cystic-Fibrosis/
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How Is Cystic Fibrosis Diagnosed? - NHLBI, NIH. (2017). Nhlbi.nih.gov. Retrieved 11 February
2017, from https://www.nhlbi.nih.gov/health/health-topics/topics/cf/diagnosis

Test, S. (2017). Sweat electrolytes test: MedlinePlus Medical Encyclopedia. Medlineplus.gov.

Retrieved 11 February 2017, from https://medlineplus.gov/ency/article/003630.htm