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Utah Newborns Tested For Cystic Fibrosis

Ruzanna Harutyunyan's picture

As many as 25 babies born in Utah this year with cystic fibrosis (CF), or who carry the CF gene, will be diagnosed early thanks to the expansion of the Utah Department of Health's (UDOH) Newborn Screening Program. The program screens blood samples from approximately 55,000 newborns every year and identifies nearly 500 babies who are born with 36 different genetic disorders.

"Often times diseases are not detected and diagnosed until symptoms actually begin to present themselves, which unfortunately could be too late to prevent disability or death," said UDOH Executive Director Dr. David Sundwall. "The Newborn Screening Program is critical to the early detection of disease and allows doctors to provide treatments that will help ensure these babies lead fuller and healthier lives as they grow up."

Cystic fibrosis is the most common life-threatening genetic disorder in the United States, affecting the lungs and digestive systems of approximately 30,000 children and adults. The disease occurs when a defective protein disrupts the normal function of cells which line the sweat glands and passageways inside the lungs, liver, pancreas, and digestive and reproductive systems. The disease causes the body to produce thick mucus that can clog the lungs and lead to life-threatening infections, or obstruct the pancreas and stop natural enzymes from helping the body break down and absorb food.

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In the 1950s, few children with cystic fibrosis lived to attend elementary school. Currently, the life expectancy for people living with the disease is close to 38 years. The Intermountain Cystic Fibrosis Center at Primary Children's Medical Center estimates that 240 children and 160 adults in Utah live with the disease. Among them are David Parkinson's four-year-old daughter Eliza and six-year-old daughter Tessa.

"The key to battling cystic fibrosis and the resulting malnourishment and fatal lung infections resulting from the condition is through early diagnosis and prevention," said Parkinson, who also chairs the Utah/Idaho Chapter of the Cystic Fibrosis Foundation and serves on the UDOH Newborn Screening Advisory Committee. "More often than not, diagnosis comes in the emergency room, where a child presents with persistent lung infections, lung damage, and malnourishment, all of which could have been avoided with early diagnosis."

With early detection and diagnosis, families will be able to obtain genetic counseling and treatments for their babies, giving them a head start in their battle with the disease.

"The Department of Health worked very effectively with the community and local and national experts to develop an innovative cystic fibrosis screening program," said Dr. Jeff Botkin, a physician and chair of the Newborn Screening Advisory Committee. "While most states are screening for cystic fibrosis, we believe the approach adopted by Utah will be a model for other states around the country."

The UDOH extends its appreciation to the many partners who worked tirelessly to add cystic fibrosis to the Newborn Screening Program, including: Dr. Barbara Chatfield of the Intermountain Cystic Fibrosis Center at Primary Children's; Dr. Dave Viskochil of the University of Utah's Division of Medical Genetics; the March of Dimes; and the volunteers who serve on the UDOH Newborn Screening Advisory Committee and the Genetics Advisory Committee.



Chromosome Alone 1: Cystic Fibrosis Cystic fibrosis (CF) is known as what is called an autosomal recessive genetic disorder, which means the disorder is present in such people because they lack an essential chromosome, which is what delivers DNA. With cystic fibrosis, each of your parents contributed to you what are known as CFTR protein genes that were mutated, meaning the genes are defective, which is why one acquires CF. The disease was first recognized during the 1930s. The name of the disease is derived from the frequent scarring of the pancreas associated with CF. CF has also been called Anderson’s Syndrome in the past. It is the most common hereditary disease in the United States. Also, the disease is almost entirely present in those who are ethnic white people and those of European decent. About 30,000 people in the U.S. have Cystic Fibrosis. Also, and for reasons unknown, men live longer than women with CF. This is disease is rare, yet devastating for one who may have it. This is a multi-system disease that can be deadly, and most with CF never lived past 5 years of age until the 1950s. Today, about 40 percent of cystic fibrosis patients are adults. With proper dietary supplements, and antibiotics to treat lung infections, the lifespan of CF patients continues to increase. Normally, CF is diagnosed when one is an infant- based on such things as low birth weight. Malnutrition is common due to the disease preventing the body from absorbing nutrients, and certain vitamins, such as vitamin D,E,A, or K. About 85 percent OF CF patients are deficient with such vitamins. In addition, genetic screening is now done on all neonates for up to 29 genetic disorders in most states in the U.S. Aside from the CF patient experiencing often pancreatic fibrosis, CF also causes lung infections and digestive problems as well. With cystic fibrosis, the glands in your exocrine system, glands that normally produce thin and slippery fluids for your internal organs instead produce thick mucus that essentially clogs your organs, such as your pancreas (mucovisidosis). This thick mucus also contributes to lung dysfunctions and infections as well. There are pharmaceuticals that have yet to be approved designed to treat cystic fibrosis patients, which appear to be promising for those affected by this disease, and improving their lifestyle, if not their lifespan.. The CF patient may want to consider seeking out those doctors and hospitals who are specialists with cystic fibrosis for evaluative reasons and treatment reviews that will be best for them to address the complications of cystic fibrosis. Dan Abshear