Introduction to Case Study

Key Words: Adoption, Chest Physio, Cystic Fibrosis, Genetics, Immunizations, Lungs, Lung transplantation, Immunization, Child Development, Erikson’s stages of development, Forced Expiratory Volume

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Discipline Breakdown

Meet Sam

• Born 2017
• Biological parents died in an automobile accident
• Biological father had a heart attack causing the accident
• Adopted by Nancy & Paul at 2 years of age
• Good-natured & inquisitive
• Immunizations are up-to-date

PART A: CYSTIC FIBROSIS

When Sam was 2 years and 6 months, Nancy & Paul were concerned about his newly developed symptoms:

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• They could hear Sam wheeze when he was breathing
• Greasy/oily stools in his diaper
• Family physician referred Sam to a pediatrician

Initial Visit

Sam’s family physician orders the following tests and looks at his immunization record:

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• Physical examination
• Blood work
• Chest x-ray (CXR)

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Sam is referred to a pediatrician

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Sam’s physician takes a look at his immunization

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Sam’s immunization record was incomplete, serological testing was done to determine immunity.

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Serology is only recommended in this situation for:

Sam’s physician conducts a physical exam…

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Sam’s physician conducts a physical exam…

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Sam’s blood work revealed…

• White blood cell count:
• WBC differential:
• Red blood cell count:
• Hematocrit:
• Platelet count:
• Sweat chloride test:
• Chest x-ray:

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Values within normal limits except for the Sweat chloride tests (40 mmol/L) and Chest x-ray (some hyperinflation & bronchial wall thickening)

Medlab

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Normally lungs are full of air (black in colour)

Fluid or blood are white in colour

Bones are white in colour, calcification will appear white

Normal CXR

Diagnosing Sam

• Nancy forgot to mention the colour of Sam’s sputum
• Sam is coughing up green, viscid sputum
• Sam had white ‘frosting’ on his face this visit
• Nancy stated: “that must be why his skin tastes a bit salty when I kiss him”
• The pediatrician ordered a sweat test be conducted and a CT scan done to confirm his suspicions

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Understanding Sam’s Sweat Test Results

• Individuals with CF have more chloride in their sweat and will require a Sweat Chloride test to confirm the diagnosis

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Medlab

Understanding Sam’s Sweat Test Results

To understand what the sweat test results mean, a chloride level of:

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Sweat chloride test results fall between the range of 30-59 mmol/L, test is usually repeated.

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Sam’s chloride levels: 65 mmol/L

Medlab

Sam’s Diagnosis

Cystic Fibrosis

What is cystic fibrosis?

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Diagnosis for Cystic Fibrosis

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Newborn Screening

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Newborn screening (NBS) for cystic fibrosis is done in the first few days after birth.

Early diagnosis and treatment can: 

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How is Newborn Screening Done?

Newborn screening is done during the first few days of your baby's life! 

A few drops of blood from a heel prick are placed on a special card, called a Guthrie card.

This card is then mailed to a special state laboratory that will test the blood sample for certain health conditions, including CF.

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Symptoms of Cystic Fibrosis

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• After hearing about Sam’s diagnosis Nancy and Paul do their own research and try to learn as much as they can about Sam’s quality of life.

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• They learn that CF can lead to many complications.

Sam’s Complications

Nancy and Paul do research on Sam’s diagnosis

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Autosomal recessive

• 1 copy of mutated gene inherited 🡪 CF carrier
• 2 copies of mutated gene inherited 🡪 CF
• Carriers can pass their copy of the mutated gene to their children

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Medlab

Complications of Cystic Fibrosis

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Complications of Cystic Fibrosis –Histological Findings

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Medlab

Complications of Cystic Fibrosis – Histological Findings

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Medlab

Complications of Cystic Fibrosis – Histological Findings

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Medlab

Clinical Manifestations

• Sam’s pediatrician explains to Nancy and Paul that at present there is no cure for CF.

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• Sam’s pediatrician recommends treatment aimed at alleviating the symptoms & reducing the incidence of complications.

Treating Sam’s CF

How do you Treat Cystic Fibrosis?

Careful follow-up and early & aggressive intervention is essential. It is recommended to obtain treatment at a centre that specializes in CF.

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Sam requires Chest Physical Therapy

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How does physical activity support children with CF to manage their disorder?

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Sam requires Nutritional therapy

Nutritional therapy can address malnutrition & vitamin deficiency that is common to CF patients.

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It involves:

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What type of diet may a child with Cystic Fibrosis need?

Sam is prescribed medication to manage his CF

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CF complications and surgical intervention

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Nancy and Paul want Sam to live like a normal child and participate in activities regardless of his CF. It is important Sam does not engage too closely with other children who also have CF.

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Nancy and Paul consult Sam's Pediatrician and he provides health education to them regarding Sam's growth and development.

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Sam cannot understand his health condition, at this age and he is focused on exploring the world and learning from others. The reactions and interactions he has with his family will shape his future self-confidence.

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PART B: CHILD DEVELOPMENT

• They enroll him in swimming classes but Sam feels shame when swimming in a group class with other children because they do not play with him in the pool.
• Some of the children are fearful of Sam's skin which has a mottled and pruritic appearance due to his chloride sweat similar to dermatitis, as well as his frequent coughing and wheezing, they do not understand that Sam has a genetic health condition.

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Sam is enrolled in a swimming class

• Nancy consults Sam’s pediatrician who informs them that Sam has been having more temper tantrums recently and she cannot understand why as he enjoyed swimming previously.
• The pediatrician informs Nancy to continue to bring Sam to his swimming lessons and eventually his tantrums will resolve as physical activity is necessary to support his growth and development and to be patient with him since he’s still adjusting to his new routine.

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Sam is enrolled in a swimming class

How does swimming benefit CF clients compared to other sports specifically?

Give an example of Autonomy that Nancy may offer Sam regarding his swimming lessons?

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Nursing

Autonomy vs Shame/ Doubt

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• At this stage the Toddler is reliant on their caregiver to organize a routine for them they need familiar faces and constant reassurance as they explore the world and try new activities.
• Toddlers typically mirror the emotions and actions of their caregivers. Sam has experienced shame and doubt because he does not understand why the other children ignore him.

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Nursing

Autonomy vs Shame/ Doubt

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• The children ignoring Sam are most likely reinforcing the words and judgments expressed by their parents towards Sam and his family without understanding the situation entirely.
• Sam is at risk for regression (losing recently achieved milestones) and separation anxiety in this environment as this is causing him stress and to feel shame. His independence is being threatened and he does not feel confident in meeting new people or going to new places.

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What are some examples of regression?

Nursing

• Sam gets older and begins to be more aware that his lifestyle is much different compared to others. He’s been in and out of hospitals for lengthy treatments most of his life. A rule-follower, Sam is careful to take his medications on time and do whatever is needed to maintain his treatment regimen. Only then can he hope for a lung transplant.

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• Until one day, Sam received a phone call from his physician stating that a new pair of lungs had arrived. Sam is excited but at the same time, he feels uneasy about the procedure and hopes to speak with others to feel reassured that he will get over this sense of fear.

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PART C: LUNG TRANSPLANTATION

Sam might qualify for a lung transplant

The criteria identified below are the conditions for which Sam may be eligible to be waitlisted for lung transplantation in Ontario.

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Chronic respiratory failure:

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Assessing candidates for lung transplantation:

Forced Expiratory Volume (FEV1)

This test indicates the amount of air that can be forcefully blown out of your lungs during the first second of expiration.

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Individuals may be considered for transplantation if their FEV1 falls below 30% OR if there is a sudden and rapid decline in FEV1.

Sam undergoes pre-transplantation evaluation tests

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Tests that may be administered pre-transplant include:

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ABSOLUTE LISTING CONTRAINDICATIONS:

• The following are conditions relating to the lung transplant candidate that constitute absolute contraindications to lung transplantation.

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• A transplant will not occur in individuals until the following conditions are resolved:

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What kinds of issues relevant to Sam’s case could prevent him from getting a transplant?

• In the ICU, Sam is placed on a ventilator until the new lungs are able to function well on their own.

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• Once the ventilator is removed, it takes weeks to months for the lungs to fully recover to near-normal function.

Post-Transplant

• Transplantation was successful, but now Sam must take immunosuppressive drugs and antibiotics everyday for the rest of his life.
• The immunosuppressive drugs reduce the immune system’s ability to reject the new organ.
• Sam’s immunity is significantly reduced, but he is hopeful to continue swimming once his pediatrician gives approval.

Post-Transplant