Newborn Screening Cystic Fibrosis Education


[ Music ]>>Cystic fibrosis is one of the most
common life-threatening genetic disorders in the United States. About 1,000 new cases of cystic fibrosis
are diagnosed in the US every year. It’s more commonly seen in Caucasians,
but sometimes occurs in Hispanics, African-Americans, and less
frequently in Asians. Testing for cystic fibrosis is now part
of the newborn screening process in Texas. As a healthcare provider, you need
to be familiar with cystic fibrosis, the testing process, and how to follow up. Immunoreactive trypsinogen, or IRT,
is a protein produced by the pancreas. If two blood samples return
with high levels of IRT, or one sample indicates very high IRT levels,
this could mean the baby has cystic fibrosis. However, it’s important to note that these heightened levels
can be caused by other factors. As the child’s primary healthcare provider,
you need to be ready to talk to parents and address their concerns
about these test results. Here’s an example of a counseling session with parents whose baby has
received an abnormal screen for CF.>>Thanks for coming in today. You’re here because your
pediatrician had referred you to see me because the newborn screening for cystic
fibrosis in your child was abnormal, and so I want to talk to you a little
bit about what cystic fibrosis is. And as you may already know, it’s a
genetic condition where there is a mutation or an alteration in the normal genes. And the child often would get
that mutation from each parent. In the lungs, it can cause the mucus to be thick
and increases the risk for recurrent infections. In the GI tract, it can affect
how your child absorbs food, and so malnutrition is something
that we really want to avoid. And in this regard, certain foods
that contain fat becomes an issue. And so if this is a problem, we have
medicines that will help break down that food and help improve your child’s
absorption of those foods. Do you have any questions for me?>>To clarify, Doctor, does
our child have cystic fibrosis?>>With the newborn screening having to elevated
IRT or immunoreactive trypsinogen level, it’s suggestive, but it’s not diagnostic. To confirm that diagnosis, we need to do a
sweat test, and if that sweat test is abnormal, or the sodium chloride concentration
is abnormally high, then it becomes more confirmatory,
although genetic testing to look at the specific gene mutation
will also be helpful.>>As the baby’s healthcare provider, you
may need to arrange for special testing, called a sweat test, to get
a more accurate diagnosis. The sweat test is done at a clinic
that specializes in the diagnosis and treatment of cystic fibrosis. Treatment for cystic fibrosis
is often given by specialists, but as a primary healthcare
provider, it’s improtant for you to understand the disorder and its management.>>What is the life expectancy
of a child with cystic fibrosis?>>That’s a great question. In the past when someone was
diagnosed with cystic fibrosis, they may not survive their infancy. But more recently, we’ve made a lot of progress,
and in fact, the average lifespan of someone with CF is about 38 years, and we have
people who are living much longer than that.>>Will she live a normal life?>>I think she will, and with proper care
and good nutrition and good follow-up, we expect her to have a normal life in every
way except for some changes that will allow her to keep her lungs clean and to make
sure that her nutrition is good and her growth and development is good.>>What can we do?>>The key here is that you are established with
a care center that provides specialized care for kids and adults with cystic fibrosis where
we focus on all the issues that we talked about and make sure that we address
any infection, or identify early, and look at their nutritional statua and
make sure that we’re growing properly, and we’re doing the airway
clearance measures that is suggested. If we’re mindful of all those
things, and we are aggressive, then your child should grow
and develop normally. Thanks for coming in today. I think you’re in a good place, and we’ll
have lots of educational material for you. And once the diagnotic testing is
in place, we can take the next step.>>Treatments vary, depending on the stage
of the disease and which organs are affected. Most people with cystic fibrosis have
trouble with chronic lung problems. Mucas-thinning drugs, antibotics, and daily airway drainage can help
decrease constant lung infections. The mucas caused by this disorder
can also obstruct the pancreas, stopping the digestive enzymes that help
break down and absorb food in the intestines. Oral enzymes and special diets
are ways to avoid malnutrition that is often a result of cystic fibrosis. Every day, researchers are
looking for better methods of treatment and a cure for cystic fibrosis. In the meantime, testing for
this harmful genetic disorder at birth allows families to
start treatment immediately. Discovering cystic fibrosis early
gives these children a better chance for a longer, healthier life. To learn more about cystic fibrosis and locate a
chapter in your area, please visit www.cff.org. And for more information on
newborn screening in Texas, please visit www.dshs.state.tx.us/newborn. [ Music ]

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