1

Lynn M. Feenan RN, MS, AE-C

Clinical Nurse Specialist

New Hampshire Cystic Fibrosis Center Coordinator

Children’s Hospital at Dartmouth

Lynn.m.feenan@hitchcock.org

603-653-9884

Disclosures

I have no disclosures to report

Objectives

By the end of this presentation the participants will be able to

Describe the genetic basis and diagnosis of CF

Describe the basic patho-physiology of the disease

List various treatment options for CF

Discuss important issues of students with CF in the classroom

Cystic Fibrosis Most common life shortening genetic disease in US Caucasians

Autosomal Recessive Disease

Affects ~30,000 children/adults in the US 55,000 individuals worldwide

Incidence: Whites (94%) 1 case in every 4,000 live births Blacks (4.3%) 1 case in every 17,000 live births Asian 1 case in every 90,000 live births Native American 1 case in every 80,000 live births

~900-1000 new cases diagnosed a year 60% detected by Newborn Screen 4% Prenatal Diagnosis 72% Diagnosed in First Year of Life

6-8% of diagnoses are made in adults

Source: Cystic Fibrosis Foundation Pt. Registry 2013

CF Diagnosis before 2000: Nasal polyposis

2

Digital clubbing CF Diagnosis – 21st Century

Prenatal Diagnosis - Genotyping when pregnant

Since 2001

FAQ Sheet - http://www.acog.org

Newborn Screening

NH since May 2006

VT since March 2008

All 50 states since January 2010

CF Diagnosis in 2013

Symptoms: Recurrent/chronic pulmonary problems – 18%

“Failure to Thrive” – 5.4%

Meconium Ileus at birth – 10%

Steatorrhea/malabsorption – 5.6%

Polyps, clubbing, infertility – 7%

Family History – 9%

Newborn Screening – 62% Prenatal Screening – 4%

CF Newborn Screening

Recommended by CF Foundation and CDC in October of 2004

Sufficient evidence existed to prove nutritional benefits of early diagnosis

Some evidence of pulmonary benefits as well

NH/VT – “IRT” (Immuno Reactive Trypsinogen) and Genotyping at UMASS state reference lab (screens for 39 common mutations)

Indeterminate sweat chloride results (30-60 mEq chloride) and “Cystic fibrosis Related Metabolic Syndrome ” is the diagnosis ~ 8% of all NBS results

Those children are followed yearly by a CF Center

“Sweat (Chloride) Test”: Pilocarpine Iontophoresis

Should be done in CFF-approved clinical laboratories

Must have adequate sweat weight

Both false negatives and false positives possible, particularly with some screening methods

Preferred test over genetic testing: cost

Intermediate values: 30-60 MEq/L

Diagnosis of CF requires values over 60 mEq/L AND clinical features compatible with diagnosis of CF

CF Genotyping is done after a + sweat test

Median Survival Age of Patients Who Have Cystic Fibrosis

2015 ~ 40 years

2016 ~ 47.7 years

3

Increasing Number of Adults with CF Pathophysiology

Molecular Understanding and Pathogenesis of Cystic Fibrosis

Genetic & protein defect (“CFTR”)

Abnormality in Cl- transport

Persistent airway infection/inflammation

Accumulation of airway secretions

Exacerbations Airway

of infection obstruction

Progressive lung destruction

Early death

Collins FS, Science 1992;256:774-9

Major Pathogenic Events in CF Lung Disease

Randell et al, Cell 95:1005-15, 1998

CFTR Mediates NaCl and Water Secretion ∆F508-CFTR Reduces ASL (Airway Surface Liquid), Increases Mucus Production and Compresses Cilia

Cilia Cilia

mucus

Cl

CFTR

Na H2O

ASL

ASL

4

Mucus on posterior surface of trachea

Mucus reappearing post bronch

Inflammation and Mucus Plugging

Normal

Mucus plugging

Pulmonary Pathogens in CF

“Typical” pathogens: Staph Aureus

H Flu

Pseudomonas Aeruginosa

“Newer” Bacteria Burkholderia cepacia

Alcaligenes xylosoxidans

Stenotrophomonas maltophilia

MRSA

Fungal Aspergillus

Pneumocystis carinii

Acid Fast Bacilli Atypical Mycobacteria = “NTM”

Mycobacterium Abscessus

Viral

5

Clinical Impact of Burkholderia

Infection Status

Mean FEV1 % Predicted

Mean survival

(years)

“Normal flora”

87.7 32 +

P. aeruginosa

64.5 29

B. cepacia 54.8 21*

CFF National Patient Registry

CF Infection Prevention & Control

CLEAR evidence of “bug sharing” at CF camps, clinics, and inpatient settings

Significant outbreaks of “bad” bugs around the world in the last decade

Increased morbidity and mortality with some outbreaks

CF Foundation Infection Control Guidelines – 2013

Update of 2003 Guidelines

Based on Worldwide Data and CDC Scoring of evidence

Fact sheets available at www.cff.org

Revised Guidelines for CF - 2013

Goals:

Review published research

Revised, evidence-based recommendations for infection control practices Inpatient

Outpatient

Non-healthcare settings

Psychosocial implications

General Principles of Infection Control

Assume that ALL CF patients have transmissible pathogens in their respiratory tract secretions.

SIX feet rule

Minimize the potential for CF patients to contact each other’s secretions via direct or indirect contact or droplet routes by containing their secretions.

Masks in clinic/hospital

Implement Standard Precautions + Transmission-based Precautions according to CDC/ HIPCAC recommendations = Contact Precautions at all CF Centers

Avoid activities and risk factors associated with transmission of pathogens in CF patients.

6

Treatment Treatment of Cystic Fibrosis

Nutrition Pancreatic enzyme supplements GERD treatment Multivitamins high in A, D, E, K Supplements: oral, NG, G-tube

Antibiotic therapy Oral Inhaled IV – Ports or PICCS, Hospital or Home

Airway Clearance and Exercise DNAse / Hypertonic Saline Vest Flutter/Acapella/PEP Devices Chest PT Autogenic Drainage

Bronchodilators Anti-inflammatory therapy

Corticosteroids, ibuprofen, azithromycin Early recognition of complications/co-morbidities

CFRD (CF Related Diabetes) Osteoporosis Liver Disease ABPA Anxiety/Depression

Kalydeco & Orkambi & Symdeko(2018)

New treatment for specific CF gene mutations

“Potentiators” and “Correctors” of the chloride channel

Significant decrease in pulmonary exacerbations

Increased weight gain

Some increase in pulmonary function test results

~ $30,000 per month

Nutrition is IMPORTANT!! Nutritional Treatment – YUM!!

7

School and Nutrition Spirometry

Respiratory Therapy: 60-90 minutes twice daily (at least)

1. Albuterol – open airways

2. Hypertonic Saline - hydrate

3. Pulmozyme - loosen

4. Airway Clearance - jiggle

5. TOBI (tobramycin), Colistin (colymycin), Cayston (aztreonam): are inhaled antibiotics – bathe and kill

6. Flovent/Advair/Pulmicort/Symbicort – decrease swelling

Airway Clearance :

8

CF Co-Morbidities: Annual Screening

Prognosis Improvement in median FEV1 since 1991

CF Patient Registry, 2011

Normal

Bronchiectasis

Lung Transplantation

9

CF in the School Setting 504 Plan for ALL Absences for CF clinic appointments

Typically quarterly but may be more often

Absences for illness / hospitalization Treatments at school

Albuterol and other respiratory treatments

High calorie meals and snacks Whole milk in the cafeteria Snacks that are “healthy” for the student with CF Enzymes with ALL food – in a timely manner TIME to eat

Hydration especially during warmer months Illness in the classroom Coughing in the classroom Bathroom use - Privacy

CF in the School Setting: MORE than one student in your school with CF??

Minimize the time that 2 students are in the same place Separate classrooms

Different desks and work stations 6 feet apart at least and at all times if using the same room

Assemblies, concerts, sports events, etc.

Separate bathrooms and drinking fountains (Water bottles)

Assign lunch tables, lockers, etc. to be as far apart as possible

Assign different locations for CF students to go for medications

Prefer that students carry enzymes/inhalers

Assign different locations to see the nurse if needed

Resources https://www.cff.org/Life-With-CF/Daily-Life/CF-and-School/

Signs and Symptoms of a CF Pulmonary Exacerbation (Report > 3 days of symptoms)

Increased cough

Increased sputum

Fever > 38°C

Weight loss >1kg or 5% of body weight

School or work absenteeism

Increased dyspnea

New chest findings – Crackles – Wheezing

Decreased exercise tolerance

Decreased FEV1 (>5% from baseline)

New radiographic or culture findings

Stutman H, Presented at the 10th Annual North American Cystic Fibrosis Conference, October 24-27, 1996; Orlando, Florida

“Real Life”

10

Dollars and Cents of Treatment Enzymes - #100 ~ $300-$400 ($1200) “Genetic Modulators”: Corrector/Potentiator ~ $30,000 per mo Vitamins - #60 = $35 Acid Reducers = #30 = $50-$300 ($250) Nutritional supplements – 24 cans = $60-$300 ($200) Antibiotics (oral) – 3 mo supply = $50-$500 ($300) Antibiotics (inhaled) – 1 mo supply TOBI ~ ($8000)

Cayston ~ $6700 Inhalers – 1 mo supply - $22-$212 Diabetes - $125 per month (strips and insulin) Airway Clearance

Pulmozyme Inhaled – 1 mo supply = ($3100) Hypertonic Saline = $60 Acapella Device - $57 Vest - $13,000-16,000 ($133) Typical Monthly Treatment Expense ~ $50,000

“Sara’s” Typical Day Wake up at 5AM

Disconnect tube feeding & flush tube

Take 3 enzymes

5:30 – Use albuterol inhaler and set up and start hypertonic saline (20 min)

5:50 – Start Pulmozyme with vest (20 min)

6:15 – Do Tobi Podhaler (5 min)

6:20 – Take shower, get dressed, do hair and make-up

7:00 – Check blood sugar, figure carbs fro breakfast, take insulin

7:15 – Breakfast with enzymes, vitamins, PPI, Zithromax, and Bactrim

7:40 – Ride to school (unable to get everything done to meet bus at 6:50)

8:10-2:45 – School (carries enzymes, insulin in nurse’s office for lunch, private BR in nurse’s office, if resp illness needs 15 minutes of Aerobika in office before lunch)

3:30 – Soccer practice

5:30 – Home, start homework

6:00 – Check blood sugar, figure carbs, take insulin and enzymes before dinner

7:00 – Finish homework

8:30 – Inhaled meds and airway clearance

9:30 – Hang tube feeding with Relizorb, take enzymes

10:15 - Sleep

Disconnect tube feeding & flush tube

Take 3 enzymes

CF Team

Pedi and Adult providers

MD, RN, SW, RD, PT, RT, CLS, Research Staff

Patients and their family members

In and Out patient staff

Community Home care Schools State supports

CF Team

CF Team

11

Thank You!