CYSTIC FIBROSIS: A CASE STUDY IN COURAGE
written by Kathy L. Nichols; Graduate Student, University of Florida

By the time her daughter, Katelyn, was four-and-a-half years old, Leisa Sims had begun hearing the word "paranoid" from physicians in response to her concerns for her daughter’s health (K. Sims & L. Sims, personal communication, April 1, 2010). She had been to doctors a total of 27 times in the prior 24 months trying to find out what was wrong, all to no avail.

This paper documents the experience of Katelyn and her family - starting from those early days of seeking answers and the difficulties encountered; moving through Katelyn’s school years, including some incredibly positive experiences, as well as some incredibly painful ones; and concluding at the present, with Katelyn now 19 ½ years old and living an active life as a college student, employee, and spokesperson for the Cystic Fibrosis Foundation. Woven throughout are clinical details about cystic fibrosis, including the importance of exercise therapy and physical activity in treating the disease.

DIAGNOSIS

Though Leisa Sims had tried for two years to find out why Katelyn - who weighed a scant 23 pounds at four-and-a-half years old, and who was almost constantly on antibiotics - was sick and frail, it was not until an advanced registered nurse practitioner (ARNP) closely examined Katelyn, noting specific signs such as clubbing of her digits, a protruding belly, and a deep cavity in her ribcage, that suspicions of cystic fibrosis (CF) were raised. The early signs and symptoms of CF vary and display at different times from person to person (National Heart, Lung, and Blood Institute (NHLBI) Signs and Symptoms, 2009; Mayo Clinic, 2010). In addition to the signs the ARNP noted in Katelyn, other signs of CF can include a salty taste to the skin, repeated lung and sinus infections, and a lack of stools for newborns or very frequent loose and bad-smelling stools for slightly older children (NHLBI Signs and Symptoms, 2009; Mayo Clinic, 2010).

According to the Cystic Fibrosis Foundation (CFF), CF is an inherited chronic disease that affects the respiratory and digestive systems of approximately 30,000 adults and children in the United States, with 1,000 new cases being diagnosed each year (2010). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

• clogs the lungs and leads to life-threatening lung infections; and
• obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. (CFF, 2010)

The gene in question is the CFTR (cystic fibrosis transmembrane regulator) gene, which resides on the seventh pair of chromosomes (University of Virginia Health System, 2008). Errors or mutations in this gene cause CF, over 1,000 types of which already have been identified. The University of Virginia Health System (UVaHS) notes that CF is an "autosomal recessive" condition (2008). "Autosomal" means that the gene is found within the first 22 chromosomes, which have no determination for gender, and therefore affects males and females equally. "Recessive" means that two copies of the gene, one from the mother and one from the father, are prerequisite to having the condition (UVaHS, 2008).

If a person receives only one copy of the mutated gene, he or she will be a "carrier" of the disease, but will be healthy and not likely to know of the carrier status (UVaHS, 2008). As with other autosomal recessive conditions, this is why in eight out of ten cases, there is no family history of CF and the diagnosis is completely unexpected (as was the case with the Sims family). Once parents have had a child with CF, the likelihood of a CF diagnosis with each future pregnancy is 25 percent, or in other words, a three out of four chance that another child will not have CF. One's ethnic background, however, contributes to whether one carries a mutated gene, and, therefore, affects the risk of having a child with CF (UVaHS, 2008). Those of Caucasian and Ashkenazi Jewish background have a significantly higher likelihood of carrying a mutated gene, as shown in Table 1 below.

Table 1
Risk of Having a Mutation in the Gene for CF and of Having a Child with CF by Ethnic Background (with no family history of CF) (UVaHS, 2008)

CF is sometimes misdiagnosed as asthma, as both diseases block the airway and can cause wheezing, coughing, and dyspnea (Weinberger & Abu-Hasan, 2007). When CF is suspected, however, it can typically be confirmed by a "sweat test" that indicates if the levels of sodium and chloride in one's sweat are higher than normal, a condition indicative of CF (UVaHS, 2008). To ensure a valid and reliable measurement is made, avoiding false-positive and false-negative results, duplicate collections are required to be taken and analyzed (Weinberger & Abu-Hasan, 2007).

Presuming substantial agreement between the results for the samples measured, a sweat chloride concentration of 60 mEq/L generally indicates cystic fibrosis. Concentrations of <40 mEq/L generally reassure that cystic fibrosis is not the cause of the symptoms. Levels of 40 to 60 mEq/L (>30 mEq/L for infants) are sufficiently suspicious to warrant genetic analysis to determine whether there are two mutations of the CFTR gene (Weinberger & Abu-Hasan, 2007). Other diagnostic procedures that can be used include chest x-rays, lung function tests, chemical tests, sputum cultures, and stool evaluations (UVaHS, 2008).

While the lungs and pancreas are the most frequently affected organs (CFF, 2010), as shown in Section A of Figure 1, other organs may also be involved. Sections B and C of the figure demonstrate the difference between a normal airway and an airway with cystic fibrosis, including the effects of mucus build-up leading to bacterial infection.

Figure 1. Organs Affected by Cystic Fibrosis and Airway Obstruction Leading to Bacterial Infection (NHLBI Signs and Symptoms, 2009)

TREATMENT

Once a diagnosis of CF has been made, treatment to offset the effects of the disease begins. For the families affected, not only do they have to deal with the emotional impact of the diagnosis, they also have to learn how to provide a strict treatment regimen for the family member with CF and implement that regimen right away. While each person’s treatment plan is individualized based on needs and limitations, the overall goals of CF treatment are to prevent and manage lung infections, intestinal blockages, and dehydration; loosen and eliminate thick mucus from the lungs; and provide sufficient nutrition (NHLBI CF Treated, 2009). There are a variety of ways that these goals can be met.

In kindergarten, Katelyn Sims’ daily treatment regimen included several components: nebulizer treatments, digestive enzymes, chest physiotherapy (CPT), and general physical activity. These were no small feats to accomplish considering that some of the enzymes and nebulizer treatments had to be administered during school hours, without the school’s assistance. This meant that Leisa Sims had to make three trips to the school each day in addition to the trips for morning drop-off and afternoon pick-up.

This was not counting the multiple CPT sessions Katelyn needed in and around school time, which were where Leisa would administer percussion and postural drainage, or pounding Katelyn’s chest and back repeatedly with cupped hands to loosen the mucus from her lungs so it could be expectorated (NHLBI CF Treated, 2009). It also didn’t account for the extracurricular physical activities that Katelyn engaged in, such as competitive pom-pom dancing competitions, at which she excelled despite CF. For instance, Katelyn and her pom-pom team won a state competition not long after she was diagnosed, even though Katelyn had a peripherally inserted central catheter (PICC) line in place for the administration of antibiotic at the time.

Even the components of Katelyn’s treatment plan that sounded fairly innocuous, such as taking digestive enzymes, were difficult. At four years old, Katelyn had a prescription for 1,500 enzyme capsules per month, but because she was so active, and because her body didn’t properly process the nutrients in the foods she ate, she was (and still is) constantly hungry, and almost always exceeded the limits of the prescription. This meant Katelyn was ingesting more than 50 enzyme capsules per day. At first her mother would mix the contents of the capsules into foods like apple sauce because Katelyn could not swallow the capsules whole, but by six years old, Katelyn was so experienced at taking the capsules that she could ingest 10 at a time independently.

While Katelyn’s neuromuscular, organic, and interpretive physical education objectives were being met, during her kindergarten year she had a crisis of sorts when it came to the social and emotional aspects of the therapies she was beginning to understand were essential for her to survive. Leisa Sims had originally encouraged Katelyn to be home schooled but acquiesced when Katelyn - who has a very close bond with her older sister, Amber - asked to be able to go to school with other kids just as Amber had done.

When Katelyn’s teacher, who had noticed the toll the constant school visits by Leisa Sims were taking, offered to administer the nebulizer treatments and enzymes during school hours but was told by the school administration that they would not allow it, Katelyn concluded that the school was not in support of her being able to survive, and she asked to be removed from the school. She did not return to a traditional school setting again until fourth grade, though it was to a different school.

In the meanwhile, as Katelyn was homeschooled, she remained physically active but was declining in health. At eight years old, however, Katelyn had the opportunity to participate in a clinical trial involving hormone therapy. From an early traumatizing experience with IVs in a children’s hospital, Katelyn had more than the usual share of fear when it came to needles, and typically required valium to get through shots and IV lines being placed. The clinical trial involved hospitalization for a two-day period four times per year, during which complete fasting was required from 6:00 a.m. to 2:00 p.m. (a major difficulty for CF patients), and blood was drawn every 10 minutes.

During the time not spent in the hospital, three months of daily shots were required, and then three months of ingesting a powder. Leisa Sims let Katelyn know that the decision to participate was hers to make, and that there was no pressure for her to decide one way or the other. After some thought, and with her usual resilience and courage, Katelyn informed her mother that even if it didn’t help her, it might help others, so she was going to do it.

The course of the trial was incredibly difficult for Katelyn, but in the long run, it was well worth it. Near the start of the trial, Katelyn’s parents had finally found out a prognosis for their daughter, which they had until that time decided not to pursue. They were told that Katelyn was not likely to make it past 12 years old based on her condition at that time. She was in the 25th percentile for weight, short in stature, weak, and frail. Over the course of the trial, though, Katelyn grew taller, her shoe size went from a two to a ladies size seven, and she gained 13 pounds, putting her in the 75th percentile for weight. Perhaps most remarkable, though disheartening at the same time, Katelyn was the only one out of the 20 children who participated in the clinical trial for whom the treatment worked.

The clinical trial was a turning point for Katelyn, and with renewed vigor, she was able to enjoy the sports and activities she liked, such as gymnastics, dance, baton twirling, basketball, and swimming. During her hospital stays, which occurred approximately once every 14 months at that point, Katelyn began writing poetry, which helped her to express her feelings and work through some difficult times. One of those times occurred in fourth grade when a classmate told Katelyn that she was going to die soon, and then, after Katelyn’s dad, David, and Leisa Sims had helped Katelyn through that hurtful instance, the same student told her that he would be glad when she died. Despite these types of challenges, though, Katelyn stuck it out and stayed in school.

Not only did Katelyn stay in school, she accomplished more than the majority of her peers despite having to contend with CF on a daily basis. As a testament to her success, Katelyn has over 250 trophies from the various activities in which she participated. In high school, for instance, Katelyn was consistently on the honor roll, parliamentarian in Future Farmers of America all four years, voted best poet in the school, a member of the prom and homecoming courts, captain of the varsity cheerleading squad and dance team, winner of the Bradford Union County Strawberry Pageant, and much more. She even managed to squeeze in work as a hostess at a local barbecue restaurant and as a runway model for bridal shows. Despite missing 64 days her senior year due to medical absences, Katelyn made straight A’s that year and graduated with a 3.4 grade point average.

Even as Katelyn participated in all of these activities, she was still undergoing daily treatments for CF, including chest physiotherapy, breathing exercises, and enzyme supplementation. For the chest physiotherapy and breathing exercises, the time frame involved can be roughly an hour to an hour and a half daily. These types of Airway Clearance Therapies (ACTs) can be accomplished via a variety of methods, none of which is better than the other in terms of efficacy (Lester & Flume, 2009). There are significant differences, however, when it comes to the appropriate age for use and the advantages and disadvantages of the various types of ACTs as shown in Table 2.

Table 2
Airway Clearance Methods (Lester & Flume, 2009, p. 735)

Clearing airways is a critical part of treatment for CF. Patients learn a variety of breathing and coughing techniques to help loosen and remove secretions. Various types of equipment are also available to help in the process. For instance, mechanized vests provide high-frequency chest compression taking the place of manual percussion and postural drainage sessions (Lester & Flume, 2009). The vests inflate and deflate to various frequencies (Hz), pressing and releasing the chest wall, which in turn helps to dislodge secretions that can then be coughed out. One disadvantage is the expense of the vests. In Katelyn’s case, her family did fund-raising to be able to buy her a vest when she was ten years old. Though she will sometimes use the vest in the mornings, the weight and bulkiness of the vest are deterrents to her for its use, and she prefers manual percussion and postural drainage when possible.

Another type of ACT is Positive Expiratory Pressure (PEP) (Lester & Flume, 2009). Hand-held devices are available that provide resistance when they are blown into, causing back pressure in the lungs and getting air behind secretions. Some of these devices, including the one preferred by Katelyn, also have oscillating internal parts that help to loosen phlegm by vibrating the airway walls upon exhalation.

Intrapulmonary percussive ventilation (IPV) is an ACT method used primarily in hospitals for patients who have increased secretions that they are unable to clear on their own (Lester & Flume, 2009). It involves a pneumatic device that delivers 100 to 300 short, high-flow air bursts to the lungs a minute. At the same time, an aerosol mist is delivered to loosen secretions.

An addition to ACTs, two other critical components of care are to avoid or treat both malnourishment and lung infections as rapidly and effectively as possible (Steinkamp & Wiedemann, 2002). Steinkamp and Wiedemann found that over a two-year period, and for all age groups, patients of normal weight experienced significantly less decrease in lung function than those with malnutrition (2002). Leisa Sims recounts Katelyn’s eating habits with a smile, as she notes that Katelyn can easily eat two foot-long subs, potato chips, and a large soda, and then 30 minutes later eat a bowl of cereal and still be hungry for more.

In terms of lung infections, of particular concern to those with CF is the opportunistic infection Pseudomonas aeruginosa. According to Todar’s Online Textbook of Bacteriology, Pseudomonas aeruginosa "...exploits some break in the host defenses to initiate an infection. In fact, Pseudomonas aeruginosa is the epitome of an opportunistic pathogen of humans. The bacterium almost never infects uncompromised tissues, yet there is hardly any tissue that it cannot infect if the tissue defenses are compromised in some manner" (Todar, 2008, p. 1). Steinkamp and Wiedemann's conclusion: the absence of Pseudomonas aeruginosa infection and the presence of normal body weight were indicative of better preservation of lung function (2002).

At times, managing ACTs, nutrition, and infection means a hospital stay for people with CF. For instance, from age eight to 11, Katelyn had a hospital stay approximately once every 14 months. When she was 11 to 13 years old, the visits averaged one to two times per year. From 13 years old to the present, the visits have been every one to three months. These hospital stays typically last a minimum of two weeks each. In addition to these hospital stays, Katelyn makes a monthly hospital check-up visit, which includes having her portacath flushed and engaging in consultations with nutritionists, pulmonologists, endocrinologists, gastroenterologists, and behavioral pediatricians. With all of the hospital stays and check-up visits, it is even more impressive to note what Katelyn has managed to accomplish with the last piece of the treatment puzzle for CF: Physical Activity.

In addition to participating in dance, gymnastics, baton twirling, cheerleading, basketball, and swimming, Katelyn has also played softball and done weight lifting. While the Cystic Fibrosis Foundation recommends that people with CF first check with their doctors to ensure they are in sufficient condition before engaging in formal exercise programs (Cerny, 2009), the organization also clearly conveys the benefits of exercise to those with CF:

Children, teens and adults with CF who exercise do better than those who don’t. Their rate of lung function decline slows. They enjoy a more normal lifestyle. Regular exercise helps the heart so it is stronger during stress. Regular exercise also helps the lung function so there are more reserves to use during exacerbations, or lung infections. (Cerny, 2009, p. 1)

This recommendation matches that of the Clinical Practice Guidelines for Pulmonary Therapies Committee, which concluded that aerobic exercise should be used as an adjunctive therapy both to help clear airways and for overall health benefits (Flume et al., 2009). The Cystic Fibrosis Foundation does note, however, the particular importance of building up stamina and watching out for heat stress in terms of the extra sodium and chloride lost in CF sweat (Cerny, 2009).

FUTURE DIRECTIONS

Some promising, yet in some ways controversial, treatments currently are being examined for CF patients. One of these is lung transplantation (Adler et al., 2009). Although some CF patients have already received transplanted lungs, issues such as organ allocation and potentially poor survival benefit make this a somewhat contested treatment option (Adler et al, 2009).

One of the more interesting and innovative treatments currently being researched is a gene therapy approach that converts the thick, sticky mucus of CF patients (that traps pathogens and fosters infection) into the thin, slippery mucus of healthy people (that moves pathogens out of the body via cilia) (Meadows, 2009). Though not yet tested on humans, researchers have been able to do this in the lab in the short term by inserting properly functioning CTFR into human parainfluenza virus (PIV) - a cause of the common cold and respiratory infections - and using the virus as a delivery mechanism to get the CTFR to cultured cells that simulate the airway lining (Meadows, 2009). The results of this research look promising, though a lot of fine tuning will be needed before the medical community will embrace this treatment.

So what is next for Katelyn Sims? She is taking classes at Santa Fe College and has ambitions to be a marine biologist and research ocean populations if she is able to get SCUBA certified. If that is not possible, she has a back-up plan, which is to study ballistics. She still works as a hostess for a restaurant and does modeling for bridal shows. She’s also a formidable spokesperson for the Cystic Fibrosis Foundation, having raised many thousands of dollars on behalf of the organization. Last year, for instance, Katelyn spearheaded the inaugural Bradford County Great Strides Walk for a Cure, in which 258 people participated, raising $15,300 for research to find a cure for CF. This will be an annual event from now on, with plans already set for this year’s walk, scheduled for September 11, 2010.

This extraordinary young woman, whose understated demeanor belies her incredible spirit and courageous zest for life, sums it all up with her philosophy: Life might not be the party we hoped for, but while we’re here, we might as well dance.

And Katelyn is one remarkable dancer.

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