Thursday, May 1, 2014

May is Cystic Fibrosis Awareness Month

This is my son, Zach. He is smart, caring, funny and lovable. He loves sports, no matter what, baseball, karate. He plays the viola. He likes to make up songs. He loves spending time with his grandparents. And he likes to annoy his little sister (what brother doesn't). He is strong willed and oppionionated. He also deals with a life-threatening disease everyday of his life.

Zach has Cystic Fibrosis (CF). He was born with this disease. However, he wasn't diagnosed with it until he was 26 months old. We fought a very long and hard battle for the first 2 years of his life to get answers to why he was so sick all the time. It took a smart ER doc to finally get the test he needed done.

What is Cystic Fibrosis?
Cystic fibrosis 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.
Who gets CF?
Cystic fibrosis is a genetic disease. This means that people inherit it from their parents through genes (or DNA), which also determine a lot of other characteristics including height, hair color and eye color. Genes, found in the nucleus of all the body's cells, control cell function by serving as the blueprint for the production of proteins.

To have cystic fibrosis, a person must inherit two copies of the defective CF gene — one copy from each parent. If both parents are carriers of the CF gene (i.e., they each have one copy of the defective gene, but do not have the disease themselves), their child will have a 25% chance of inheriting both defective copies and having cystic fibrosis, a 50% chance of inheriting one defective copy and being a carrier, and a 25% chance of not having CF or carrying the gene.
    What are the symptoms of CF?
    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?
    Most people are diagnosed with CF at birth through newborn screening (this wasn't available when Zach was born), 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.
    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

    These are just a few important things to know about Cystic Fibrosis. Throughout the month I will be posting more information on the disease and ways to help find a cure. In the meantime, if you would like to learn more about CF go to . You will find lots of information on the disease, how to help, accredited centers for testing and care and much more.

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