Tuesday, November 20, 2007

Newborn Screening for Cystic Fibrosis Offers Hope

Imagine how difficult it would be as a parent, to take your sick child from doctor to doctor, and none knew what was wrong. The doctors seem to think your baby is merely battling a stubborn cold, or has food allergies of some sort. You know that can’t be the correct diagnosis, so you exhaust yourself searching websites that describe your little one’s symptoms, but never can quite put your finger on anything that explains it. Then you find it.

Cystic fibrosis.

Cystic fibrosis is the most common genetic disease affecting the Caucasian population. It is caused by a mutation in a particular protein in a person's DNA. This mutation causes a malfunction in the sodium and chloride transport channels. As a result, large amounts of salt are secreted in the sweat of a person with cystic fibrosis. Additionally, the body produces abnormally thick, sticky mucus which creates problems for nearly every major body function, particularly the respiratory and digestive systems.

People with cystic fibrosis are prone to frequent bouts of pneumonia and other lung infections. This is because bacteria become easily trapped in the sticky mucus that blocks the airways. Airway clearance devices and preventive maintenance medications are typically used to avoid infection. Such methods include inhaled antibiotics, bronchodilators, aerosolized medications, and chest physiotherapy.

Digestive problems also arise due to the thick mucus in the intestines and around the pancreas. Pancreatic insufficiency results when the pancreas cannot secrete the necessary enzymes to break down food. Enzymatic supplements are taken orally to aid in digestion. However, even with the supplements, people with cystic fibrosis are typically malnourished because the mucus lining the intestines prevents major vitamins like A, D, E and K from being properly absorbed into the body.

Treatment of cystic fibrosis
Over the last two decades there have been incredible developments in the treatment and understanding of cystic fibrosis. Ongoing research and the development of new medications are enabling some cystic fibrosis patients to survive into adulthood-something that was virtually unheard of in the past. Unfortunately, a cure remains to be found. The Cystic Fibrosis Foundation reports that the mean life expectancy is a mere 36 years of age.


You’re stunned as you read about it. It sounds so scary, but all the symptoms add up and are exactly what your child has been experiencing over the last year or more. Loose, greasy, smelly, bowel movements; persistent cough and recurring lung infections; digestive problems; failure to gain weight; those funny shaped fingers. The list goes on and you can hardly process it. You are frustrated that the doctors never even thought of testing your child for this monster disease, and you wonder how much damage may have already been done to your little one’s body. You are angry, confused and sad all at once and your only thought is to get your child tested for cystic fibrosis as soon as possible.

Now imagine the empowerment of knowing as soon as your baby was born, about the unique health care requirements he or she would need. You and the doctors could work together to devise a treatment plan that would ensure the best possible health and quality of life for your son or daughter. Instead of fear of the unknown, you are given hope for the future.

Mandatory newborn screening for cystic fibrosis is not yet widespread. As of June, 2007, only 38 (see list, below) states in the U.S., including Washington D.C., had mandatory screening programs in place. Although more are planned, they cannot be implemented soon enough.

States with Mandatory Cystic Fibrosis screening for Newborns

District of Columbia
New Hampshire
New Jersey
New Mexico
New York
North Dakota
Rhode Island
South Carolina
South Dakota

* these states have not yet implemented their mandatory screening program

According to the Cystic Fibrosis Foundation, the nation’s largest provider of funding for CF research, “Early diagnosis allows for immediate intervention with specialized therapies” which “have been shown to result in improved height, weight and cognitive function, and also may help maintain respiratory function. The greatest long-term benefit of newborn screening and early intervention is an increased life expectancy fewer hospitalizations over the course of a CF patient’s lifetime.”

California is the most recent state to require mandatory screening in newborns. It is the hope of many that the remaining states will soon be on board with this potentially life-enhancing measure. The following states have yet to mandate a newborn screening process for CF:

North Carolina
West Virginia

If your state is one of those listed above, consider taking action. Let your legislators know that it's important to implement newborn screening for CF. Here's how you can make that happen.

1. Contact the state health department to find out if CF is being considered for newborn screening.

2. Call or write to your governor. Visit the Web site of National Governor's Association www.nga.org to learn how to contact your governor.

3. Call or write the state legislators. www.ncsl.org is the website listing all the contact information for your state.


Jennifer said...

Please note the following news release from the Indiana State Department of Health:

Cystic Fibrosis Included In Indiana's Newborn Screenings

INDIANAPOLIS - Effective Oct. 1, Cystic Fibrosis was included in newborn screenings, according to the Indiana State Department of Health and the Cystic Fibrosis Task Force.

Indiana is the fifteenth state to test for all 29 target newborn screening conditions recommended by the March of Dimes. With the newest addition, every newborn in the state will be screened for a total of 45 conditions.

Cystic Fibrosis is a genetic condition causing frequent respiratory infections and digestive complications shortly after birth. Without a newborn screen, it is most commonly diagnosed when children are between the ages of 2 and 4. Nearly five percent of children with Cystic Fibrosis die before they can be diagnosed.

By including Cystic Fibrosis in the newborn screen, children with Cystic Fibrosis can potentially be diagnosed within the first month of life and receive treatment earlier, which will greatly improve their overall health. Approximately 300 Indiana children per year will have a positive Cystic Fibrosis newborn screen, of which 40 will be diagnosed with Cystic Fibrosis.

After receiving a positive Cystic Fibrosis screening, a child's primary care provider will receive a packet of information from the Indiana State Department of Health to better assist the patient's follow-up care. State health officials recommend children be referred to centers approved by the Cystic Fibrosis Foundation and that families receive genetic counseling.

For more information about Cystic Fibrosis, go to the Cystic Fibrosis Foundation's Web site at http://www.cff.org/.

n1303k said...

Vermont will begin screening all newborns for CF on March 1, 2008.

However, Maine obstinately continues to let undiagnosed CF run wild. Maine's Center for Disease Control and Prevention, which oversees the state's newborn screening program, knows the science supports adding CF to its program -- but the agency's head, Dr. Dora Mills, refuses to add CF to the program on the ground that the agency is currently subject to a hiring freeze. This is ridiculous! New Hampshire added CF to its NBS program last year without hiring any additional staff.