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Cystic Fibrosis
Cystic Fibrosis
Alesia Ortiz
SCI 1123
5/1/19
What is Cystic Fibrosis?
A genetic condition in which a protein in the body is affected. This faulty protein affects the body's cells, issues and glands that make both mucus and sweat.
Doctor's Report
Thick and sticky mucus builds up and leads to blockages or infections in the affected organs. Some individuals have few or no signs or symptoms, but others may face more severe cases that can be life-threatening.
Most individuals face problems with the lungs and have pulmonary or respiratory problems.
Symptoms
Report
- Fever, such as night sweats
- Blockage of the intestine after birth
- Jaundice
- Sinus infections
- Muscle and joint pain
- Clubbing of fingers and toes
- Low body mass index
- Delayed growth or puberty
Treatment
There is no cure for cystic fibrosis, but instead there are treatments that can be started as a newborn and medicine that can be taken.
Treatment
- Airway Clearance Techniques are done to loosen lung mucus in order to reduce infections and improve breathing. The techniques can be used with medicines like mucus thinners.
- Antibiotics (oral, inhaled or IV), anti-inflammatory medicines (ibuprofen or corticosteroids), bronchodilators, mucus thinners and CFTR modulators are all options that can be used to maintain and improve lung function.
Treatment
Statistics in the U.S.
Statistics (U.S.)
- In the U.S. there are about 30,000 people living with Cystic Fibrosis
- 1 in 2,500 to 3,500 are Caucasian babies, while 1 in 17,000 are African American and 1 in 31,000 are Asian American.
- There are 1,000 new cases diagnosed each year and more than 75% are being diagnosed by age 2
- Patients with Cystic Fibrosis can expect to live to about 47 years old, but some are even reaching their 50s or 60s.
Statistics around the world
- About 70,000 people have been diagnosed with CF around the world
- In the European Union, about 1 in 2,000 to 3,000 babies are diagnosed with CF at birth, which is a bit higher than the average in the U.S.
- CF is thought to be under-diagnosed in Asia and Africa and infants are not tested at birth for the disease
Statistics (Global)
Airway Clearance Techniques
Airway Clearance Techniques are provided to loosen thick, sticky mucus to clear the lungs by coughing or huffing. This clearance is believed to help decrease lung infections and overall improve lung function. Some techniques are listed below:
Technologies
- Chest Physical Therapy
- Coughing and Huffing
- Active Cycle of Breathing Technique
- Autogenic Drainage
- Positive Expiratory Pressure
- Oscillating Positive Expiratory Pressure
Research
What Now?
The Cystic Fibrosis Foundation works worldwide to search for a cure, fund research and provide access to specialized care and treatments for individuals with Cystic Fibrosis. The foundation is responsible for many of the drugs that are available today.
Their milestones can be seen through this link:
https://www.cff.org/Research/About-Our-Research/Research-Milestones/
How is CF inherited?
Every individual inherits one CFTR gene from each parent. Children that inherit the CFTR gene with a mutatuon from both parents have cystic fibrosis. A mutated CFTR gene can be inherited from only one parent while also inheriting a normal CTFR gene from the other parent. In this case, the individual will be a cystic fibrosis carrier, who are generally healthy, but can pass the mutated gene to their children.
Genetic Counselor's Report
Dominant or Recessive Disorder? Sex-linked or Autosomal?
Genotype
Cystic Fibrosis is an autosomal recessive disorder. This means that you can only herit the condition if both parents contribute the recessive gene.
Genotype
Genotype
As stated before, the genotype of the parents must be that both have a mutated gene which furthermore is passed onto the child. (Cc)
9%
15%
2%
37%
Genotype contd.
What is the possibility that this is passed on?
Inheritance
When two CF carriers have a child, the chances of their child having Cf is:
- 25%
- 50% the child will be a carrier, but not have CF
- 25% the child will not be a carrier and not have CF
When a person with CF has a child with a CF carrier the chances are:
- 50% the child will be a carrier and not have CF
- 50% the child will have CF
Punnett Square
C c
CC
Cc
C
In this variation, both parents are carriers. The chances of their child obtaining CF is 25%.
Punnet Square
Cc cc
c
Pedigree Key
- unaffected female
C = carrier
Pedigree
- affected female
- unaffected male
- affected male
C
C
Pedigree
Daily Routine
- Changes to daily routine: As a parent who is expecting a child with this genetic disorder I will have to make many changes in my everyday routine. I will have to keep to date with doctor appointments and mediation. Most importantly I will be in charge of treatments for the child. These treatments include a breathing mask that I would have to remember to put on him.
Parent's Report
Accommodations
Accommodations that must be made: The child would have to have a machine to purify the air so they won't get sick. Also, the child will need to accommodate a breathing tank around with him/her most of the time.
Accommodations
$
$
Estimated medical costs: The estimated medical cost for a person who has this genetic disease is approximately $15,571.
Emotional Impact
Personally, I would feel guilty that my child turned out to have this mutation. I would feel as though it was my fault that this happened to them. My husband would most likely feel sad that he would have to see our child suffer. My child, I assume, would feel left out from the rest of the world. I presume they would want to do things a healthy person does. The rest of my family would feel heartbroken that he/she won't be able to live a normal life.
Emotional
Impact
Changes
Changes
If there was an opportunity to be near a treatment center that will help my child out there's no doubt in my mind that I would move. As far as support groups I would also be willing to move because it would be beneficial for everyone
I believe my child would be treated differently because of all of the stigma. They would develop low self-esteem and furthermore depression. .
Local Treatment Centers
Cystic Fibrosis Foundation - Northeast Texas Dallas Chapter: (214) 871-2222, https://www.cff.org/netx/
Community
Resources
Support Group
There are none near me but online: https://clairesplacefoundation.org/programs/outreach-program/
Local Support Groups
National Foundations
National foundations that provide grants or other support
https://www.cffamilyconnection.org/links/links-aid/: info@cffamilyconnection.org
National
Special Schools or Programs
No special school required for children with CF
Special Schools or Programs
Local Businesses/Online?
Nothing near me but online: https://www.cysticdreamsfund.com/: 978-290-0635
Online: Contact information for all organizations
Local Businesses
Citations
- “Cystic Fibrosis.” National Heart Lung and Blood Institute, U.S. Department of Health and Human Services, www.nhlbi.nih.gov/health-topics/cystic-fibrosis.
- “Cystic Fibrosis Research Milestones.” Cystic Fibrosis Research Milestones CF Foundation, www.cff.org/Research/About-Our-Research/Research-Milestones/.
- Admin. “7 Airway Clearance Techniques - Page 2 of 2.” Cystic Fibrosis News Today, 12 Feb. 2019, cysticfibrosisnewstoday.com/2017/08/21/seven-airway-clearance-techniques/2/.
- “Cystic Fibrosis Statistics.” Cystic Fibrosis News Today, cysticfibrosisnewstoday.com/cystic-fibrosis-statistics/.