Cystic Fibrosis

By: Jennyfer GarciaMelissa Mencos

Jacqueline Herrera

What we already know Cystic Fibrosis is an excess of mucus in lungs, digestive

tract, and liver. People with this disease have an increased susceptibility to infections. If it is not treated death comes in early childhood. Also, that it is the most common fatal genetic disease in the United States.

We chose this disorder because we wanted to learn more on this disease.

What we want to find out about this disease is why does it occur? Where does a person get it from? And many other questions.

Between our group we do not know of anyone with this disease.

Disorder Specialist

What is the type of disorder – gene or chromosomal? CF is caused by a mutation in the gene for the protein

cystic fibrosis Transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally.

If, gene is it dominant or recessive? It is an autosomal recessive disease. The CF gene is

found on chromosome 7.

Disorder Specialist What the karyotype of this disorder looks like... We did not put an exact picture because there is not an

exact karyotype for cystic fibrosis. Since Genetic mutations are alterations of the genetic

material (compared to the normal condition of the species) involving modifications in the normal nucleotide sequence of a gene but without structural or numeric chromosomal changes.

These modifications may be deletions (loss of nucleotides), substitutions (exchange of nucleotides by other different nucleotides) or insertions (placement of additional nucleotides in the DNA molecule).

There are almost 1,400 different mutations that cause cystic fibrosis

Disorder Specialist

What are the signs and symptoms of the disorder including a detailed description of how it affects the human body ?

The main symptoms of cystic fibrosis are salty tasting skin, poor growth and poor weight gain despite a normal food intake, accumulation of thick, sticky mucus, frequent chest infections and coughing or shortness of breath. Males can be infertile due to congenital absence of the vas deferens. diarrhea that does not go away frequent episodes of wheezing frequent episodes of pneumonia chronic sinus infection There are many other medical problems as symptoms, and also many

symptoms may vary from person to person.

Disorder Specialist

What different tests could have been provided to the parent to have found out about this disorder before its birth?

The test that could have been provided was carrier screening, CF carrier testing is a blood or saliva test. It checks to see if parents-to-be have (carry) the abnormal gene that causes CF. The test can help determine if you're at increased risk for having a child with CF. that is the best chance of knowing whether your child will have cystic fibrosis or not.

What other names or abbreviations are used for the disorder?

The abbreviation for cystic fibrosis is CF, and another name for this disease or disorder is mucoviscidosis.

Genetic Counselor

How did the child get Cystic Fibrosis? Cystic fibrosis is a genetic disorder. It's caused by a change, or mutation, in a gene. The changed gene is passed down in families. To pass on this disease, both parents must be carriers of the changed gene.

Genetic Counselor

What is the survival rate? Is it treatable?The survival rate for people with cystic fibrosis has increased over the past 40 years. Some live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer. There is no cure for cystic fibrosis and the disease generally gets worse over time.

Genetic Counselor

What are the treatments, if any for this disorder?Experts have not yet found a cure for cystic fibrosis, but new and improved treatments help people who have cystic fibrosis live longer.

The goal of cystic fibrosis treatment is to: Prevent and control infections in your lungs, loosen and remove the thick, sticky mucus from your lungs, prevent blockages in your intestines, and provide adequate nutrition.

Genetic Counselor Besides the symptoms, what tests can be done to

diagnose cystic fibrosis?A sinus x ray. This test may show signs of sinusitis, a complication of CF.  A sputum culture. For this test, your doctor will take a sample of your sputum (spit) to see what bacteria are growing in it. If you have bacteria called mucoid pseudonym you may have more advanced CF that needs aggressive treatment. Lung function test. This test measures the size of your lungs, how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.

Pedigree of Cystic Fibrosis

Genetic Counselor What biotechnological applications are

currently being used in the fight against cystic fibrosis? 

Gene therapy is currently being used in the fight against cystic fibrosis. Researchers have succeeded in partially repairing the Cystic-fibrosis gene using an approach that targets the RNA copy of the gene. The goal of gene therapy is to substitute a "normal" genes for defective genes associated with disease.

Parent of Patient What kind of lifestyle your child will have with this disorder? Have ongoing medical care by a team of doctors, nurses, and

respiratory therapists who are familiar and specialize with cystic fibrosis

Have check-ups every 3 months at the doctors Take medications prescribed by the doctors Follow a healthy diets that includes a variety of fruits,

vegetables, and whole grains Exercise daily and drink plenty of fluids Be aware of bacteria and germs by washing his/her hands to

prevent infection Have incessant coughing and it will be its constant companion get easily tired, he or she may not be able to participate for long

in sports or any rough games that children often play

Parent of Patient How long your child will live?

Children with cystic fibrosis tend to have short life expectancies, typically living up to 20 to 30 years. Recent developments in medicine, however, have lengthened the life expectancy to 40 or even 50 years.

Parent of patient If your child with the disorder will be

able to have children of his/her own and if his/her children will be affected ?

My children will be able to have a normal sex life. Unfortunately my son with cystic fibrosis will be infertile, preventing him from having children of his own. However, modern reproductive techniques may help them.

Parent of Patient

If you were to have more children, what is the probability that another child will be affected by the same disorder?

My daughter, living with cystic fibrosis, will find it hard to get pregnant. However, it is possible. And at any given time, when she decides to have children of her own, she should consult her doctor if she’s planning a pregnancy.

There’s a 1/4 chance the child will have cystic fibrosis

Prenatal Testing Opinion from the United States Catholic

Bishops Conference the Church cannot offer a credible

opinion on the quality or reliability of these tests; that is the province of the scientific and medical communities. However, genetic testing raises and will continue to raise moral issues for the individual, for the family, for racial or ethnic groups, and for society as a whole. The Church has a responsibility to offer insights based on its venerable tradition and current experience, not only to inform consciences and assist in the formation of wise public policy, but also to keep tradition vital.

Prenatal Testing

Most often genetic tests show no disease, relieving anxiety. Moreover, the Catholic Church welcomes testing when it functions as an extension of sound medical practice. Genetic testing can assist sound decision-making in a wide range of situations. It is most commonly employed to detect problems with newborns. Moreover, millions of Americans are hospitalized every year because of hereditary disease and congenital defects. To the extent that genetic testing sets the

stage for a cure or effective therapy, it is a blessing.

Prenatal Testing Testing has legitimate uses even in the

delicate arena of human reproduction. Young couples considering marriage may want to know whether one or both partners carry a gene associated with mental retardation, cystic fibrosis, breast cancer, or some other heritable condition. While such testing carries risk, it can be considered an act of prudence, whether the couple subsequently decides to marry or not.

Prenatal Testing

Our Opinion For prenatal testing in general - whether it be

carrier screening, ultrasound screening, maternal blood sampling, Chorionic Villus Sampling (CVS), Amniocentesis (Amnio), Alpha-Fetoprotein (AFP) Screening, Cordocentesis/Percutaneous Umbilical Cord Blood Sampling (PUBS), etc – we think it is a good idea for future mothers to do these types of testing to either get rid of the worry of having a child with a disease or find out about the disease early and prepare mentally and emotionally to bring a baby with a disease to the world.