What are the physical symptoms of the disease?

With every disease that a person has, pretty much every one of them has some kind of physical symptoms.  A person with Cystic Fibrosis experiences various symptoms.  These symptoms are coughing, wheezing, respiratory illness, weight loss, salty-tasting skin, and greasy stools.  The good thing about these symptoms is that they can be treated to make them less aggressive. 

How is the disease diagnosed?

Cystic Fibrosis is in a way a very “easy” disease to diagnose.  Now, I am not saying that it his easy but I am saying there are about 3 ways that can lead doctors to be able to diagnose the disease.  The first way that doctors can detect Cystic Fibrosis is in newborns.  Doctors can measure the amount of the protein, Trypsinogen, in the patient’s blood.  The level in the blood stream is higher than normal in a person with Cystic Fibrosis.  Another way is a genetic test that can identify a bad CFTR gene using a blood sample.  The third way is a sweat test.  Doctors can take a sample of the patient’s sweat from there arm or leg and measure the amount of salt (Sodium Chloride) in the sample.  People that have Cystic Fibrosis have between 2-5 times the normal amounts of salt in their sweat.       

What are the chances of a person with the disease passing the disease to their offspring (include possible scenarios)?

There are many different ways that two adults could produce offspring that are carriers, normal, or have Cystic Fibrosis.  Since Cystic Fibrosis is a recessive disorder both parents would have to be carriers or have the disease in order for there to be a chance of passing the disorder onto their offspring.  Below are a couple scenarios…

Normal mother x Normal father       Carrier Mother x Normal father        Carrier mother x Carrier father

              (All normal)                               (50% normal, 50% carrier)              (25% normal, 50% carrier, 25% have CF)

FF	FF
FF	FF

FF	Ff
FF	Ff

FF	Ff
Ff	ff

          

How prevalent is the disease in the population (include statistics)?

Cystic Fibrosis is one of the most common recessive genetic disorders in the United States.  It is estimated that about 30,000 Americans are living with Cystic Fibrosis, and approximately 1,000 new cases are diagnosed every year.  The people that have the highest incidence of Cystic Fibrosis are Caucasians from Northern Europe and Ashkenazi Jews.  These people have a 1 in 20-25 chance in being carriers of Cystic Fibrosis.   

If this disease is genetic-- what are the possible genotypes of the parents? If the disease is a chromosomal abnormality, describe the abnormality?

Cystic Fibrosis is a genetic disease that is autosomal recessive.  Therefore both of the child’s parents had to have been heterozygous (carriers) for Cystic Fibrosis.  Also both of the parents had to of passed on their recessive gene to their child.  Below is an example of what the parent’s genotypes HAD to of been….                        

FF	Ff
Ff	ff

                                                         

                             

Cystic Fibrosis is also a chromosomal abnormality of 1 gene (Chromosome 7).  Chromosome 7 controls the normal production of CFTR.  A person with Cystic Fibrosis has absent or defective CFTR production which leads up to mucus in lungs and problems with pancreas function and food absorption. 

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

To inherit Cystic Fibrosis, which is a genetic disorder, both of the child’s parents had to of had a gene defeat that they passed on to their offspring.  A child will inherit this genetic disorder only if he/she inherits both of the defective copies of the gene.  The defective gene that causes Cystic Fibrosis is located on chromosome 7.  Chromosome 7 controls the normal production of a protein called Cystic Fibrosis Transmembrane Regulator (CFTR).  A mutation on this gene leads to defective CFTR production.  Which means that the child had a one: four chance of inheriting the disorder and was in that 25%.   

What is a Genetic Counselor?- Qualifications, Education, Job Details?

A Genetic Counselor plays a big role in the medical field as far as genetic diseases go.  A Genetic Counselor is a health professional with specialized graduate degrees and experience in the areas of medical genetics and counseling.  They also work as members of a health care team that gives information and support to families who have members with birth defects or genetic disorders.  They also give information to families who may be at risk for a variety of inherited conditions.  There are five types of Genetic Counselors; Clinical, Commercial, Diagnostic Laboratories, Education and Public Policy, and research.  A Clinical Genetic Counselor works with patients and families in hospitals, private practice, or to consult with families.  You can also specialize in Prenatal, Pediatric, Cancer-risk, adult, cardiovascular, hematology, and neurogenetics.   A commercial counselor works with bio tech companies to design, sell, and administer genetic tests.  A Genetic Counselor that works in the Diagnostic Laboratory works as a liaison between the diagnostic laboratory and referring physicians to their patients.  If you wanted to work in the Education and Public Policy part of the field, you would teach and advise companies, students, and lawmakers.  And the last type of Genetic counselor is a research counselor; who works as study coordination for research projects involved with genetics.  As far as education goes, a genetic counselor has to have a masters degree from one of the over thirty United States graduate programs.  The average income for a Genetic Counselor with a master’s degree with five to nine years of experience in 2006 was roughly $61,268.  Then in 2008 the median salary for a counselor was $54,832.