cystic fibrosis foundation
TRANSCRIPT
Cystic Fibrosis Foundation
Joan Walton RN
Cystic Fibrosis Foundation
Research Goals
To increase understanding of CF complexity and disease progression
To enhance my ability to care for and understand patients with respiratory conditions and impaired mucus clearing capacities
To gain knowledge on how the CFF supports and aids the CF population.
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Cystic Fibrosis is a chronic progressive multi organ affecting genetic disease Cause: Faulty CFTR gene
CFTR Gene
Function: produces cystic
fibrosis transmembrane
conductance regulator
protein
Defect in gene and its
protein product leads to
faulty cellular water,
sodium, and chloride flow
Defect causes thick, sticky
mucus
Incidence
CF occurs equally in males
and females
Both parents must be
carriers
Child has a 25% chance of
contracting CF or being
unaffected
Child has a 50% chance of
becoming a carrier
CF Prevalence
30,000 or 1/3700 U.S. children
and adults have CF
Worldwide prevalence is
70,000
Approximately 1000 new cases
diagnosed each year
Affects nearly every race
Most common in Caucasian
of Northern European descent
1/2500 Caucasian births
affected
75% of new cases are diagnosed by age 2
Diagnosis
Newborn screening required in all states using a genetic test or blood test.
Positive genetic test reveals flawed CFTR gene.
Blood test shows abnormal pancreatic function.
2 Sweat tests confirm diagnosis if genetic or blood tests is positive
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Systems affected by CF
Complications
Bronchiectasis, chronic infections, nasal polyps, hemoptysis, pneumothorax, respiratory failure
Nutritional deficiencies, diabetes, rectal prolapse, intussusception
Osteoporosis, electrolyte imbalance
Respiratory
Gastrointestinal
Other
Testing Following Diagnosis
Genetic testing
Chest x-ray
Sinus x-ray
Lung function tests
To identify type of CFTR defect
Can reveal lung inflammation, scarring, or air trapping
May show signs of sinusitis
Measures inspiratory and expiratory capacity, respiratory rate, and blood oxygen level.
Testing Following Diagnosis
Sputum culture
Prenatal genetic screening
Carrier testing
Tests for bacteria in sputum
Pseudomonas presence may indicate advanced disease
Associated with an increased morbidity and mortality
May be completed by amniocentesis and chorionic villus sampling
Blood or saliva-tests for faulty CFTR gene, accurate in 9/10 cases
Care and Treatment Goals
Specialist care recommended
Available at major medical centers
>100 CF care centers in the U.S.
Medical teams consist of nurses, PT, dieticians, RT and social workers
Programs/clinics for adults and children
Treatment Goals:
Prevent and control lung infections
Loosening and removing thick, sticky mucus from the lungs
Prevent or treat intestinal blockages
Provide adequate nutrition
Prevent dehydration
Treatment
CPT or Chest Physiotherapy
Synonymous with postural drainage and percussion
Electric chest clapper or mechanical percussor
Inflatable therapy vest
Flutter valve or mask
Treatments
Exercise improves
physical condition
Increased and harder breathing
helps loosen mucus
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Treatments
Medicine:
Antibiotics
oral, inhaled or
IV
Anti
inflammatories
Mucus clearing
medicine
Bronchodilators
Synthetic enzymes-mucolytic
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Treatments
Ivacaftor
First drug to target faulty CTFR
gene and its protein product
May be prescribed in those
with G551D gene mutation
Occurs in 5% of people with
CF
Approved for those 6 years
and older.
Treatments
Pulmonary rehab recommended
Improves functional capacity, well being and life quality
Includes:
Exercise training
Nutritional counseling
Disease management education
Energy conserving techniques
Breathing strategies
Psychological counseling
Group support
Treatment
Digestive problems
Bulky stool
Swollen abdomen
Gas
Severe constipation
Pain and discomfort
Poor growth and development in children
Treatment
Well balanced diet:
Rich in calories, fat
and protein
Oral pancreatic
enzyme
replacement:
Enhances fat,
protein and CHO
digestion and
vitamin absorption
Treatment
Fat soluble vitamin (D,A,K,E) supplementation
High salt diet
Salt supplementation before exercising
Night tube feedings may be indicated
Enemas and mucus thinning medicines may be needed for intestinal blockages
Medications to reduce stomach acid may be prescribed to enhance pancreatic enzymes effectiveness
Treatment in Advance Disease
Oxygen
Lung transplant
Prognosis and Prevention
Nearly 50% of the CF population is 18 year old or older
Survival rate is nearly 37 years
Primary cause of death in 2013 was cardio-respiratory and transplant related
Early identification through newborn screening has
Increased survival rates
Improved lung function and growth
Lead to less intensive and cheaper therapy
What is the Cystic Fibrosis Foundation?
A non-profit donor-supported organization which is dedicated to attacking cystic fibrosis from every angle
The mission and focus of this organization is:
To cure CF
To provide all people with the disease the opportunity to lead full, productive lives by funding research and drug development, promoting individualized treatment and ensuring access to high-quality, specialized care
Non-profit donor-supported
Dedicated to attacking cystic fibrosis
from every angle
The mission and focus:
To cure CF
To provide those with CF the opportunity to lead full, productive lives through research funding, drug development, promoting individualized treatment and ensuring access to high-quality, specialized care.
Cystic Fibrosis Foundation History
Worlds leader in the search for a CF cure
Leading research funder
Established in 1955 in Philadelphia, Pennsylvania by a group of parents with CF children
Parents were looking at grants to fund CF medical research
CF children rarely lived to attend elementary school during this time
Today, based in Bethesda, Maryland
1989:CFF supported scientists discovered defective CTFR gene
CFF funds and accredits a national care center network recognized by the NIH as a model of care for chronic disease
As treatment became available survival rates increase
State and Local CFF champions
CFF has 70 chapters and branch offices across the country
Local Chapter:
Cystic Fibrosis Chapter of Western New York
Serves Allegany, Cattaraugus, Chautauqua, Erie, Niagara, Orleans and Wyoming Counties
Partners with community supporters to raise awareness and hold fund raising events
Funding
CFF fund raising events include Great strides, CF Cycle for Life, Finest Events, Xtreme Hike, Dinner Dances and Galas, Golf tournaments, CF Climb, fishing tournaments, American Airlines Celebrity Ski and Ultimate Golf Experience
Superdance- Annual CF fundraiser held at Bishop OConnell High School in Arlington, Virginia. 2015 is 40th year. Total funds raised is $3.9 million in support of research for a cure
Large private donations can be made through the Milestones Club
Local 2015 Cystic Fibrosis Foundation Events
June 2015 Greater Niagara BassEye Celebrity Challenge
August 2015 65 Roses Golf Tournament
September 2015 Tee Off Against CF
October 2015 Rising Stars
CFSAtional:Women of WNY
CFF Registry
Created nearly 50 years ago
Biannually published data report
Collects data from patients receiving care at CFF accredited care centers
Data collected on: health outcomes, clinical care and demographic characteristics
2013 report contained data on 28,000 CF patients
Data used to develop care guidelines and to study treatments and outcomes
Assists in guiding quality improvement initiatives and to design CF clinical trials
CF Exacerbation Evidence Based Practice Treatment Guidelines
Flume, P., Mogayzel, J. Robinson, K., Goss, C, Rosenblatt, R., Kuhn, R., Marshall, B., & the Clinical Practice Guidelines for Pulmonary Therapies Committee (2009) Pulmonary Perspective, Cystic Fibrosis Pulmonary Guidelines, Treatment of Pulmonary Exacerbations
10 guidelines developed by a CFF established committee
Recommendations based on review of research study results
Recommendation #1
IV antibiotic delivery in a nonhospital setting is not recommended unless resources and support are equivalent to the hospital setting
Bosworth, D. (1997) Effectiveness of home versus hospital care in the routine treatment of cystic fibrosis
Study subjects
Similar age
Similar disease severity
5 patients
27 home care courses/33
hospital care courses
Research comparison of
recommendation #1
Wolter, J., Bowler, S. Nolan, P., McCormack, J. (1997) Home intravenous therapy in Cystic Fibrosis: A prospective randomized trial examining clinical, quality of life and cost aspects
Study subjects
Adults and adolescents
CF exacerbations
17 patients
13 home care course/18 hospital care courses
Treatment: IV antibiotics and CPT
Outcome measures:
PF (FVC and FEV1)
changes
Measured at treatment start
and after 2 weeks
Treatment length
Interval between antibiotic
courses
Research comparison of
recommendation #1
Treatment: IV antibiotics and PT
Outcome measures:
Body weight
12 minute walking distance
12 hour sputum production
Room air pulse oximetry
LF improvement
Measured at treatment onset,
after 10 days and 10 days
following treatment
Findings:
Minimally supervised
homecare was less
effective than hospital
care
Home care increased
care cost by as much as
30% due to longer and
more frequent courses
of antibiotic therapy
Research comparison of
recommendation #1
Findings:
No clinical advantage
to home therapy, advantages
were related to quality of
life
Home therapy was less
costly and was found to be a
feasible alternative to
hospital care
Rochester Chapter
P.O. Box 368
Pittsford, NY 14534
Phone: 800-FIGHTCF
Email:[email protected]
Contact: Gia Coone
Contact information
Western New York Chapter-Buffalo
1775 Wehrle Drive, Suite 150
Williamsville, NY 14221
Phone: 716-204-2535
Email: [email protected]
Contact: Gia Coone
Central New York Chapter-Syracuse
2507 James Street, Suite 106
Syracuse, NY 13206
Phone: 315-463-7965
Email:[email protected]
Contact: Executive Director: Amy Spranger
Bibliography
American Lung Association (2010) Cystic Fibrosis, Retrieved March 22, 2015 from: http://www.lung.org/assets/documents/publications/solddc-chapters/cf.pdf
Bishop OConnell High School (n.d.) Superdance for Cystic Fibrosis, Retrieved April 4, 2015 from:http://www.bishopoconnell.org/page.cfm?p=679
Bosworth, D. (1997) Effectiveness of home versus hospital care in the routine treatment of cystic fibrosis, Pediatric Pulmonology, 24 (1):42-7, Retrieved March 31, 2015 from: http://www.ncbi.nlm.nih.gov/pubmed/9261852
Bibliography
Cystic Fibrosis Foundation Patient Registry (2013) Annual Data Report, Retrieved March 22, 2015 from:
http://www.cff.org/UploadedFiles/research/ClinicalResearch/PatientRegistryReport/2013_CFF_Annual_Data_Report_to_the_Center_Directors.pdf
Cystic Fibrosis Foundation (2013) An Introduction to Postural Drainage and Percussion, Consumer Fact Sheet, Retrieved April 11, 2015 from:
http://www.cff.org/UploadedFiles/treatments/Therapies/Respiratory/PosturalDrainage/An-Introduction-to-Postural-Drainage-and-Pecussion-03-2012.pdf
Cystic Fibrosis Foundation, (2014) What is Cystic Fibrosis? About Cystic Fibrosis, Retrieved March 21, 2015 from: http://www.cff.org/AboutCF/
Bibliography
Cystic Fibrosis Foundation, (n.d.) Find a Chapter, Retrieved March 30, 2015 from: http://www.cff.org/aboutCFFoundation/Locations/FindAChapter/
CFF, (n.d.) Find a Chapter, Retrieved April 4, 2015 from:http://www.cff.org/aboutCFFoundation/Locations/FindAChapter/index.cfm
Cystic Fibrosis Foundation, (n.d.) Help add tomorrows today, Your Way! Learn about signature events, Retrieved march 31, 2015 from: http://www.cff.org/GetInvolved/Events/
Cystic Fibrosis Foundation (n.d.) Ivacaftor, Retrieved April 3, 2015from:
http://www.cff.org/treatments/Therapies/ivacaftor
Bibliography
Cystic Fibrosis Foundation, (n.d.) Patient Registry Reports, Retrieved March 22, 2015 from: http://www.cff.org/LivingWithCF/QualityImprovement/PatientRegistryReport/
Cystic Fibrosis Foundation (n.d.) Western New York Chapter, Retrieved March 22, 2015 from: http://www.cff.org/Chapters/wny/AboutUs/
Cystic Fibrosis Foundation (n.d.) Western New York Chapter, Retrieved March 22, 2015 from:http://www.cff.org/Chapters/wny/
Dunford, N. Kell, B (2012) P. Aeruginosa bacteria associated with increased hospitalization in COPD patients, American Thoracic Society International Conference, Retrieved March 21, 2015 from: http://www.thoracic.org/about/newsroom/press-releases/conference/2012/jamil%20_sethi_%20final.pdf
Bibliography
Flume, P., Mogayzel, J. Robinson, K., Goss, C, Rosenblatt, R., Kuhn, R., Marshall, B., & the Clinical Practice Guidelines for Pulmonary Therapies Committee (2009) Pulmonary Perspective, Cystic Fibrosis Pulmonary Guidelines, Treatment of Pulmonary Exacerbations, Retrieved March 27, 2015 from: http://www.cff.org/UploadedFiles/treatments/CFCareGuidelines/Respiratory/CF-Care-Guidelines-Pulmonary-Exacerbations.pdf
NIH ( 2013 ) What are the Signs and Symptoms of Cystic Fibrosis, National Heart, Lung and Blood Institute, U.S Department of Health and Human Services, Retrieved April 13, 2014 from: http://www.nhlbi.nih.gov/health/health-topics/topics/cf/signs
Bibliography
John Hopkins Cystic fibrosis Centers (n.d.) A Case of Cystic Fibrosis, Retrieved April 13, 2015 from: http://www.biologycorner.com/worksheets/case_study_cystic_fibrosis.html
Livraghi, A., Randell, S. (2007) Cystic Fibrosis and other respiratory diseases of impaired mucus clearance, Toxicologic Pathology, 35:116-129, Retrieved March 21, 2015 from: http://tpx.sagepub.com/content/35/1/116.full.pdf+html
Mayo Clinic (2015) Complications, Cystic Fibrosis, Retrieved March 21, 2015 from:http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/complications/con-20013731
Milestones Club (n.d.) Retrieved March 4, 2015 from: http://www.cff.org/UploadedFiles/aboutCFFoundation/MilestonesCampaign/MilestonesClub/Milestones-Club-Fact-Card.pdf
Bibliography
National Heart, Lung, and Blood Institute, U.S. Department of Health and Human Services (2013) How is Cystic Fibrosis Diagnosed? Retrieved March 28, 2015 from: http://www.nhlbi.nih.gov/health/health-topics/topics/cf/diagnosis
National Heart, Lung and Blood Institute, U.S. Department of Health and Human Service (2013)How is Cystic Fibrosis Treated? Retrieved march 28, 2015 from: http://www.nhlbi.nih.gov/health/health-topics/topics/cf/treatment
Taccetti, G. Bianchini, E. Cariani, L. Buzzetti, R. Costantini, D., Trevisan, F. Zavataro, L., Campana, S. (2012) Early antibiotic treatment for Pseudomonas aeruginosa eradication in patients with Cystic Fibrosis, A randomized multicentre study comparing two different protocols, Thorax, 67 (10):853-859. Retrieved March 21, 2015 from: http://www.medscape.com/viewarticle/770787
Bibliography
U.S. National Library of Medicine, National Institute of Health, (2015) CFTR, Genetics Home Reference, Retrieved March 28, 2015 from: http://ghr.nlm.nih.gov/gene/CFTR
Vauntium, LLC (2015) Cystic fibrosis foundation history,Org Hub, Retrieved March 22, 2015 from:http://cysticfibrosisfoundation.orghub.net/pages/history.html
Wolter, J., Bowler, S. Nolan, P., McCormack, J. (1997) Home intravenous therapy in Cystic Fibrosis: A prospective randomized trial examining clinical, quality of life and cost aspects, Eur Respiratory J., 10(4):896-900, Retrieved March 31, 2015 from: http://erj.ersjournals.com/content/10/4/896.long