“Playing the Cards Life has Dealt”

Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

• clogs the lungs and leads to life-threatening lung infections; and
• Obstructs the pancreas and stops natural enzymes from helping the      body break down and absorb food.

Symptoms of Cystic Fibrosis (source:  http://www.cff.org/AboutCF/)

People with CF can have a variety of symptoms, including:

• very salty-tasting skin;
• persistent coughing, at times with phlegm;
• frequent lung infections;
• wheezing or shortness of breath;
• poor growth/weight gain in spite of a good appetite; and
• frequent greasy, bulky stools or difficulty in bowel movements

How is CF diagnosed?

(source:  http://www.cff.org/AboutCF/Faqs/#How_is_CF_diagnosed?)

Most people are diagnosed with CF at birth through newborn screening, or before the age of 2. A doctor who sees the symptoms of CF will order a sweat test or a genetic test to confirm the diagnosis.

A sweat test is the most common test used to diagnose cystic fibrosis and is considered the diagnostic “gold standard.” A small electrode is placed on the skin (usually on the arm) to stimulate the sweat glands. Sweat is then collected and the amount of chloride, a component of salt in the sweat, is measured. A high level of chloride means that the person has cystic fibrosis.

For children who are less than six months old:

• Chloride levels at or above 60 mmol/L (a measure of concentration) means the child has CF.
• Chloride levels between 30 and 59 mmol/L are considered borderline and need to be examined on a case-by-case basis.
• Chloride levels below 30 mmol/L are considered negative for CF.

For people over the age of six months:

• Chloride levels at or above 60 mmol/L means the person has CF.
• Chloride levels between 40 and 59 mmol/L are borderline.
• Chloride levels below 40 mmol/L are considered negative for CF.

The best place to receive a reliable sweat test is at a Cystic Fibrosis Foundation-accredited care center.

In a genetic test, a blood sample or cells taken from the inside of the cheek are sent to a laboratory that specializes in genetic testing. Most labs only test for the most common mutations of the CF gene. Because there are more than 1,400 mutations that cause CF, screening for all mutations is not possible. A genetic test is often used if the results from a sweat test are unclear.

How does CF affect the lungs? 

(source: http://www.cff.org/AboutCF/Faqs/#How_does_CF_affect_the_lungs?)

Normally, the healthy CF gene makes a protein—known as CFTR (Cystic Fibrosis conductance Trans membrane Regulator)—that is found in the cells that line various organs, like the lungs and the pancreas. This protein controls the movement of electrically charged particles, like chloride and sodium (components of salt) in and out of these cells.

When the protein is defective, as in cystic fibrosis, the salt balance in the body is disturbed. Because there is too little salt and water on the outside of the cells, the thin layer of mucus that helps keep the lungs free of germs becomes very thick and difficult to move. And because it is so hard to cough out, this mucus clogs the airways and lead to infections that damage lungs.

Thick mucus production results in frequent lung infections. Diminished secretion of pancreatic enzymes is the main cause of poor growth, fatty diarrhea, and deficiency in fat-soluble vitamins. Males can be infertile due to the condition congenital bilateral absence of the vas deferens. Often, symptoms of CF appear in infancy and childhood but not always the case.  Many have been diagnosed much later in life. Meconium ileus is a typical finding in newborn babies with CF.

Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing. Newborn screening tests are increasingly common and effective (although false positives may occur, and children need to be brought in for a sweat test to distinguish disease vs. carrier status).

Currently, there is no cure for cystic fibrosis. However, specialized medical care, aggressive drug treatments and therapies, along with proper CF nutrition, can lengthen and improve the quality of life for those with CF.

The best way for people with cystic fibrosis to fight their disease is to work with their medical caregivers at a CF Foundation-accredited care center. The care center partners with people who have CF to help keep them in the best health possible.

July of 1980 was a life changing month in our family’s life; I was diagnosed with Cystic Fibrosis.  I was five months old in July 1980.  My parents had already heard about CF because my older brother was tested when he was a baby due to bouts of pneumonia.

The reason they began to suggest that I be tested for CF was that I was not gaining weight.  I was having constant fatty/greasy stools, spitting/throwing up, and failure to thrive.  I was in what I like to call the “frog baby” stage because my head continued to grow but I was not putting on weight not so I began to look like a tadpole.  I was not gaining weight because everything I was eating seemed to not stick around due to being pancreatic insufficient.

Once the final diagnoses came in the doctors began treating the CF.  I began taking pancreatic enzymes to help with the digestion of my food.  People with CF are either pancreatic sufficient or pancreatic insufficient.  Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack of digestive enzymes made by the pancreas. (Source: http://en.wikipedia.org/wiki/Exocrine_pancreatic_insufficiency)

My parents researched and got as much information about CF that was available at the time.  They were scared but they knew that they had to be proactive in this and not be ignorant and act like I did not have any problems.  My parents were also worried about the financial burden this would bring.  My mother wanted to stay home with me so that she could take care of me but that was not possible financially.  My parents continued to treat me as any other child but with a little extra care.

My parents had to learn to adapt to having a child with an incurable disease.  Life had to go on after the diagnosis.  As I mentioned before, I do have an older brother who does not have CF.  We had to find a new normal as a family.  In a moment my parents’ lives had been drastically changed but my life had just begun.

You will find that the CF community is relatively small when you look at the big picture.  You will be talking to someone and they will mention that they know “so and so” who has CF.  For instance, my first grade teacher ended up having two students that had CF 15 years after she had me in class.  Even more interesting is, I ended up meeting those two students along with their family about 10 or so years ago not due to the teacher but due to the nurse in the CF peds clinic.  I am now good friends with their mom.  The nurse in the peds clinic knew she could always count on me and my mom to talk to newly diagnosed families.  We have met some great people over the years.  When I meet people who are tied to CF in some way, it is interesting to see the common factors of who we know, where we went to school or where we live.  You will find that it is indeed a “small world after all.”