Our Cystic Fibrosis Center is made up of several groups involved in cystic fibrosis care including physicians, nurses, nutrition, social work, respiratory therapy and genetics.
Over the past 20 years, many research studies have shown that adequate nutritional support is strongly associated with good lung function. The cystic fibrosis dietitians closely follow clinic patients to encourage healthy eating habits, which promotes weight gain or appropriate weight for height. There are several dietitians who monitor growth patterns, dosing of pancreatic enzyme replacement, vitamin supplements and high calorie diets for patients with cystic fibrosis from infants to adults. Ongoing nutrition education is an essential component in the medical therapy of each patient and the dietitians tailor nutritional care plans to meet individual needs.
Social workers are leaders in making sure people get the help they need, when they need it, from the best resources available. As members of the Pulmonary Medicine health care team, they promote wellness through prevention, care and recovery. The social workers are skilled in identifying the strengths and needs of patients and families and work to support them as they cope with the diagnosis and treatment of cystic fibrosis. We also provide advocacy, emotional support and links to community resources.
The Respiratory Therapists at Nationwide Children's Hospital are licensed health care professionals and are specially trained to care for our cystic fibrosis patients and their families. As key team members, the respiratory therapists' role includes performing complete pulmonary function testing (PFTs) following the cystic fibrosis pulmonary guidelines, aerosol therapy, review of airway clearance techniques with huff cough along with cleaning and disinfecting respiratory equipment. Patient compliance is key to successful airway clearance so the respiratory therapists work closely with the patient, their family and the pulmonary physician to adapt the best therapy for the patient so there is better adherence.
The respiratory therapists are members of the Learning and Leadership Collaborative (LLC) committee, which has led to improving patient compliance, improved continuity of care, updating educational material, abstract and poster presentations at the National Cystic Fibrosis Conference and updates at the cystic fibrosis “Family Night." This committee also prompted one of our quality improvement projects, which started in 2009. A formal questionnaire was developed to be reviewed annually with each cystic fibrosis patient. The questionnaire includes an intensive review of airway clearance (what therapy is used, how many times a day, medication sequence, huff cough demonstration, barriers to therapy, infection control and recommendations made by the Pulmonary lab staff). In 2009, 80% of our patient population was provided with the questionnaire and 85% were surveyed in 2010. Our 2011 goal is to extend this to over 90% of our patients.
Pulmonary function tests (PFTs) are an important measure of lung health and keeping the lungs healthy is one of the most important avenues to a long and healthy life. This is also known as spirometry. These tests are usually performed at every visit by having the patient take a deep breath, and then blowing as hard as they can to empty their lungs into a handheld device connected to a computer, which records the patient’s values. The values will be used to help in determining how well the patient is doing in addition to the clinical exam and history from the patient. This involves hard work and a great deal of cooperation to be effective.
In older children and adults, we also perform plethysmography (“body box”), which is a form of lung function testing performed in a clear plastic box and is used to help determine the amount of air the lungs can hold, which is important in following lung health. This is typically performed once a year. Patients may decline this procedure if uncomfortable as it may be difficult for patients afraid of small spaces.
While PFTs are important in patients who are old enough to cooperate and blow, they are equally important in those young infants and toddlers who are not able to cooperate yet. Infant pulmonary function tests (IPFTs) were developed to monitor lung health in infants and toddlers. The tests and equipment we use today were developed at Nationwide Children’s Hospital with the cooperation and support from the Cystic Fibrosis Foundation and the National Institute of Health. IPFTs are performed while the child is sedated and asleep and may be done in conjunction with other tests such as a CT scan of the chest. The tests are not painful but are performed while the patient is asleep because children at this age cannot cooperate. The information obtained can be used to make treatment changes to avoid early lung disease in patients with cystic fibrosis.
Nationwide Children's Hospital has a Genetics Clinic staffed by eight clinical geneticists and five clinical genetic counselors. The genetic counselor, Matt Pastore, also staffs the Cystic Fibrosis Clinic. They are available on clinic dates to meet in person, as well as other times for general questions. The genetic counselors discuss the genetics and inheritance of cystic fibrosis, provide risk assessment for the parents and other family members and discuss testing options available prior to and during pregnancy.
Cystic fibrosis is an inherited genetic condition. It is inherited in an autosomal recessive manner. This means it is an inherited disease affecting both males and females. Cystic fibrosis occurs when a person inherits a particular pair of genes that do not work correctly. The affected person inherits one of these non-working genes from each parent. Usually the parents do not have cystic fibrosis but are carriers of the disease. A carrier is a person who has one working gene and one non-working gene. One in 25 (4%) of caucasians is a carrier of cystic fibrosis. It is less common, but still occurs, in other ethnic backgrounds. Generally, a carrier has no symptoms because the working gene compensates for the non-working gene. To have a child with cystic fibrosis, both parents must be cystic fibrosis carriers.
When both parents are carriers, they have a 1 in 4 (25%) chance of having a child affected with cystic fibrosis, a 1 in 2 (50%) chance of having a child who is a carrier, and a 1 in 4 (25%) chance of having a child who does not carry the cystic fibrosis gene at all. When only one parent is a carrier, they have a 1 in 2 (50%) chance of having a child who is a carrier, and a 1 in 2 (50%) chance of having a child who does not carry the cystic fibrosis gene at all. When one parent has cystic fibrosis and one parent is a carrier, they have a 1 in 2 (50%) chance of having a child affected with cystic fibrosis and a 1 in 2 (50%) chance of having a child who is a carrier. When one parent has cystic fibrosis and the other parent is not a carrier, all of their children will be unaffected cystic fibrosis carriers.
Carrier testing is available for all couples considering pregnancy, regardless of a family history of cystic fibrosis. If a person is found to be a carrier, his or her partner could be offered cystic fibrosis carrier testing to determine if they are at an increased risk of having a child with cystic fibrosis. Remember, a couple is only at an increased risk of having a child with cystic fibrosis if both parents are cystic fibrosis carriers. Cystic fibrosis carrier testing is not typically performed on children in the absence of symptoms because it will not affect their medical management. It is usually offered once they reach child-bearing age. Carrier testing can be arranged through a primary care physician or through a cystic fibrosis clinic.
If you have any questions, please contact:
- Matt Pastore, genetic counselor, (614) 722-2465
- Cystic Fibrosis Clinic, (614) 722-4766
Psychologists are available through the Cystic Fibrosis Center to provide a range of services for children, adolescents and adults diagnosed with Cystic Fibrosis and their families. Assessments and therapy services are provided to both outpatients and to inpatients. Assessments can focus on delays in development or learning, problems in behavior, or concerns about Cystic Fibrosis. Therapy can target issues related to Cystic Fibrosis, such as adherence to medical regimen and depression or anxiety, or those unrelated to Cystic Fibrosis, such as attention deficits and temper tantrums. Services are available for infants through adults, as well as with families, and can be scheduled around Cystic Fibrosis Clinic appointments or at other times. Services are coordinated with the Cystic Fibrosis Center social workers and the school system. Referrals can also be made to other agencies in patients’ communities for psychological assessment and/or treatment. Speak to your medical providers about these psychological services or contact the Department of Pediatric Psychology & Neuropsychology at (614) 722-4700.