Paediatric Case Study: Cystic Fibrosis and its Impact on the Family

The case study focuses on a family with a newborn baby diagnosed with cystic fibrosis (CF), an autosomal-recessive disorder characterized by the production of thick mucus that obstructs exocrine glands. CF affects various body systems, including respiratory, gastrointestinal, and reproductive systems and is caused by mutations in the CFTR gene on chromosome 7. Clinical manifestations of CF depend on the affected body system and may include chronic bronchitis, respiratory tract infections, pancreatic insufficiency, malnutrition, and infertility.

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Case Study 1 Paediatric Case Study:
The case study depicts David and Catherine Lee, immigrants from Malaysia living in
Sydney. They are currently in their early thirties and are regular Christian worshippers. The
couple has three children, Ian, Tiffany, and Toby, who are seven years, two and half years,
and six weeks old, respectively. They have been informed that the lastborn, Tony, has cystic
fibrosis (CF), yet none of the parents or immediate family members has the disorder. The
purpose of this paper is to discuss CF, the effects on the family, the holistic impact of the
condition, partnerships of care, nursing interventions, and community resources related to
CF.
Brief Overview
This section will discuss the aetiology, pathophysiology, diagnosis, and medical treatment of
CF.
Aetiology
CF is an inherited autosomal-recessive disorder characterized by the production of
thick mucus that obstructs the exocrine glands (Domino et al., 2020). It is a heterogeneous
disorder with more than 1500 mutations and phenotypes on chromosome 7. The gene is
autosomal recessive. Therefore, both parents must be carriers of the faulty gene for a child to
inherit the disease (O'Neal & Knowles, 2018). The disorder affects various body systems,
including the respiratory, gastrointestinal (GI) and reproductive systems. It is characterized
by heavy production of mucus in the airways, which causes obstruction and fluid stasis,
creating a suitable environment that facilitates bacterial growth. The continuous presence of

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mucus causes chronic bronchitis, chronic respiratory tract infections, and chronic dilation of
the bronchioles (Esther et al., 2019). Complications may occur, including arterial erosion and
haemorrhage, pneumothorax, and respiratory failure (Girón Moreno et al., 2021). Besides, the
mucus often obstructs the pancreatic ducts inhibiting the secretion of pancreatic enzymes. It
also blocks the vas deferens and ovarian ducts resulting in infertility.
Pathophysiology
CF is a lethal inherited disorder classified under autosomal recessive disorders. Both
gene alleles must be mutated for the disorder to be conveyed. The CF gene is situated on
chromosome 7 and synthesizes a protein that regulates chloride movement across cell
membranes. CF occurs due to defects in the CF gene that codes for the protein
transmembrane conductance regulator (CFTR) (O'Neal & Knowles, 2018). CFTR is a
chloride channel modulated by cyclic adenosine monophosphate (cAMP). Mutations in the
CFTR gene cause defects of cAMP-regulated chloride transport across epithelial cells on
mucosal surfaces. The ensuing abnormalities in the CFTR gene hinder the normal movement
of chloride in and out of cells resulting in the production of thick and sticky mucus (Domino
et al., 2020). The mucus occludes the airways in the lungs and the glandular tissues in the
non-pulmonary organs, resulting in atrophy and organ dysfunction (Girón Moreno et al.,
2021). Non-pulmonary problems include liver cirrhosis, poor growth, pancreatic
insufficiency with malnutrition, intestinal obstruction, and male sterility.
Clinical Manifestations
The clinical manifestations of CF occur as per the affected body system. The initial
symptoms in newborns are seen in the GI and include meconium ileus, anaemia, frothy and
malodorous bulky stools, prolapse of the rectum, malnutrition, and failure to thrive. Other

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common manifestations include barrel chest, wasted buttocks, protuberant abdomen, and thin
extremities (Naehrig et al., 2017). Respiratory findings include dry and nonproductive cough,
wheezing, crackles, recurrent respiratory infection and diminished breath sounds. However,
during an acute exacerbation or when the disorder advances to the end stage, there is
increased chest congestion, crackles, cough, sputum production, usually with hemoptysis,
decreased activity tolerance, and severe shortness of breath (Esther et al., 2019). Clinical
manifestations in the integumentary system include a persistently high concentration of
sodium and chloride in the sweat and wrinkled skin secondary to dehydration. Often parents
notice the salty taste of the infant’s skin before a diagnosis (ref).
Diagnosis
The primary diagnostic test for CF is a sweat chloride analysis. The defect in chloride
movement hinders the absorption of sodium chloride in the sweat glands resulting in a person
having more chloride than normal in the sweat (Chen et al., 2021). The sweat chloride test is
considered positive for CF when the chloride level in the sweat is 60-200 mEq/L, since the
normal range is 5-35 mEq/L. Other genetic tests can be carried out to establish a patient's
specific mutation (Naehrlich, 2020). The test is vital since different mutations present with
varying degrees of disease severity.
Medical Treatment
CF has no cure, and patients usually require daily therapy to delay the disease's
progress and improve gas exchange. The conservative management interventions include
antibiotic therapy, medicated aerosol therapy, and chest physiotherapy (Button et al., 2016).
Antibiotic therapy is used to treat respiratory infections and if very severe, IV antibiotics are
administered, usually an aminoglycoside like tobramycin and colistin or meropenem

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(Almughem et al., 2020). Maintenance drugs include anti-inflammatory agents,
bronchodilators, and mucolytics. Chest physiotherapy includes chest vibration, chest
percussion, and dependent drainage positions to loosen secretions and promote drainage
(Fakıoğlu & Altun, 2020). In addition, enzyme replacement is used to replace pancreatic
enzymes.
Holistic Impacts & Partnerships of Care 408/210
Patients and their families often experience challenges meeting family needs and
maintaining normal family relationships. The morbidity and mortality associated with CF
present emotional, cognitive, and behavioural challenges for many patients and their families.
A majority of individuals with CF survive through into adulthood. In spite of this survival,
the disorder is progressive, particularly with regard to the deterioration in pulmonary
function, which significantly impacts a patient's quality of life (QoL) (Girón Moreno et al.,
2021). In this case, CF could affect Toby’s QoL in adulthood mainly due to restrictions in
physical functioning, as well as limitations in various aspects like sleep and rest, nutrition,
home management, employment, and recreational and pastime activities. Patients also have a
high level of psychosocial dysfunction. Toby may have a high level of psychological distress
and could be diagnosed with psychological diagnoses like anxiety and depression (Finlay et
al., 2021). Furthermore, he may have poor adjustment, attributed to high-stress levels, low
self-efficacy, increased assessment for CF-related cues, and loss of control over his health.
Parents with children diagnosed with the diseases develop distress, negatively
affecting parent-child attachment, especially with parental depression and anxiety. Thus,
Toby’s parents may develop increased depression, anxiety, and stress (Finlay et al., 2021).

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Toby’s siblings may also be psychologically affected. Studies show that the presence of a
child with CF in the family negatively impacts siblings, especially in peer activities and
psychological functioning. CF may have a major economic impact on Toby’s family due to
direct medical, direct non-medical, and indirect costs. Daly et al. (2022) found that informal
caregivers of patients with chronic conditions, including CF, provide a considerable service
to society, valued at £132 billion annually in the United Kingdom (UK) compared with the
cost of offering alternative professional care.
CF may disrupt the Lees family life in the emotional, social, physical, and financial
aspects. Thus, it is crucial for the nurse to create partnerships with the patient and their
family. With a strong partnership, the nurse plays a fundamental role in supporting the patient
and the family to create such order and reconstruct their lives, while becoming accustomed to
the fact that their child could die prematurely (Bierlaagh et al., 2021). Furthermore, the nurse-
family partnership is important since the nurse plays the role of an educator and empowers
the family and the patient to make informed decisions Palkovic et al., 2020). The nurse also
helps the family develop the skills necessary to care for the child.
Nursing Activities & Resources 440/850
The nurse’s role in caring for a patient with CF is to provide a wide range of non-
pharmacological interventions and health education to children and their families. The
priority nursing interventions for Toby include teaching the parents about drug therapy,
pulmonary hygiene, infection prevention, nutrition, and vitamin supplementation (Bierlaagh
et al., 2021). For example, the nurse should teach the family members about protecting
themselves by avoiding direct contact with bodily fluids such as saliva and sputum (Godfrey
et al., 2021). Besides, the nurse should teach the parents to prevent Toby from routinely

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shaking hands or kissing other people in social settings. In addition, the nurse should educate
Toby’s parents about nutritional management in CF, which focuses on maintaining a healthy
weight, vitamin supplementation, and the replacement of pancreatic enzymes.
In the inpatient setting, nursing interventions focus on airway clearance and
promoting increased oxygenation. The nurse administers bronchodilator and mucolytic
therapies as prescribed to promote airway clearance. In addition, the nurse administers
supplemental oxygen based on the patient’s SaO2 levels to improve gas exchange and
oxygen saturation (Bierlaagh et al., 2021). Nursing activities also include pain management
interventions and employing distraction interventions to alleviate pain and anxiety related to
the procedures, especially in children like Toby (ref)..
The nursing activities when caring for Toby through adulthood include encouraging
the involvement of his family members in the therapeutic process. The nurse should support
Toby's family, which is an essential promoter of the child’s well-being through adulthood and
will enable him to better adapt to the disease (Palkovic et al., 2020; Varilek & Isaacson,
2020). Furthermore, the nurse will play a decisive role in Toby’s follow-up on the different
phases of his life and the different phases of the disorder (Jaques et al., 2020). The nurse
should also coordinate Toby’s care with the healthcare team that takes care of Toby during
his childhood, adolescence, and adulthood.
The health services resources available to Toby’s family include health education on
the home management of CF and approaches to prevent respiratory infections. Counselling
services are also available to help Toby’s parents cope with their child’s disease and address
any psychological distress they may have developed (Fakıoğlu & Altun, 2020). Toby’s
parents can also be introduced to support groups for parents with children diagnosed with CF

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(Julian Legg et al., 2021). They can learn how to manage their child’s condition at home and
address common challenges associated with caring for a child with CF.
Community Resources
Community resources include peer support programs for persons with CF and their
family members. Social support is associated with decreased mental and physical symptoms
among children with CF and their families. Jeffrey et al. (2020) assert that online forums and
informal peer support create a positive experience and show that interest in peer support is
not restricted to local areas. According to Julian Legg et al. (2021), peer support can provide
Toby’s family with primary functions like emotional and social support, assistance in
implementing disease management plans, and on-demand support
Conclusion
CF is a genetic autosomal recessive disorder caused by obstruction of chloride
transport in the cell membranes. The defect in chloride transport results in the production of
thick and sticky mucus that clogs airways causing respiratory symptoms. A positive sweat
chloride test is used to diagnose CF. CF may affect Toby’s QoL in adulthood by restricting
his physical functioning. Nursing activities include providing non-pharmacological
interventions to manage CF like promoting airway clearance and increased oxygenation,
health education, and providing support to the family. Health resources for Toby's parents
include health education, counselling, services, and peer support groups.

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