By Cheryl Anderson
Post-Crescent staff writer
Shortly after her birth, Wren Dennis’ heel was pricked and a blood sample was taken to help ensure that one little ouch didn’t one day become an “oh no.”
A textbook pregnancy didn’t prepare her mother for the phone call she received a couple of weeks after the sample was collected Aug. 11. One of the newborn’s tests came back abnormal, and there was a slight possibility Wren had fatty acid oxidation disorder, an autoimmune disease in which the body is unable to process certain foods and turn them into energy. Her parents, unknowingly, would both have been recessive carriers.
“Babies or individuals that have this can get what is called failure to thrive, basically you’re taking in food but not processing it,” said Wren’s mother, Jessica Dennis, of Appleton. “It was a horrible disease to be facing; eventually the baby will die from this. It’s very hard on your internal organs.”
A retest, thankfully, came back negative.
Despite newborn testing beginning more than 40 years ago, only in recent years has testing expanded to include rare diseases and disorders that would be life threatening.
There is a growing movement to add some of the rarest of rare illnesses — with such names as bubble boy disease, Pompe disease and Krabbe disease — to the battery of screenings given to U.S. babies hours after birth.
“Families go through these odysseys of diagnosis” to learn what’s wrong with a child, says Dr. Alan Fleischman of the March of Dimes, who’s part of a government advisory committee studying what to add to the national screening list. Often, “they argue that they would have been better off knowing even if there were no treatments.”
Since 2004, specialists have urged that every U.S. newborn be tested for 29 rare but devastating genetic diseases, using a single heel-prick of blood, to catch the fraction who need fast treatment to avoid retardation, severe illness, even death. States gradually adopted those recommendations, and federal health officials say the testing catches about 5,000 babies a year with disorders ranging from sickle cell anemia to maple syrup urine disease and others with such tongue-twisting names that they go by acronyms like LCHAD.
In Wisconsin, which is one of only two states to test for the rare bubble boy disease, it has become standard operating procedure. The state tests its approximately 70,000 newborns for 48 diseases, above and beyond the 29 that are nationally recommended.
That’s a quiet comfort for Dennis.
“I would much rather know that she has it and have however many years with her than not know and (that) this is something that would have killed her,” she said.
While most babies are born healthy and normal, health problems exist that are not always evident at birth.
“Newborn screening tests are one of the most important tests your baby will have in the first few years of life,” Dennis said. “Early diagnosis is key to managing many of the diseases that these tests screen for.”
Still, Dennis said knowing would have been better than not.
Once blood is collected from an infant, specimens are sent to the Wisconsin State Laboratory of Hygiene at the University of Wisconsin-Madison School of Medicine and Public Health, an internationally recognized leader in the field of newborn screening.
Wisconsin has historically been a leader in newborn screening for a variety of reasons, said WSLH public affairs manager Jan Klawitter.
“One of them is that we have a very collaborative approach. … And we’ve had leadership in the state going back decades now, both with the Division of Public Health and State Laboratory of Hygiene where they put a real emphasis on being able to be at the cutting edge of this technology in order to add more disorders as the technology increases and the ability to treat the babies here.”
“The most common tests are for phenylketonuria (PKU), hypothyroidism, hemoglobin problems (like sickle cell anemia and thalassemia), congenital adrenal hyperplasia and galactosemia,” ThedaCare pediatrician Sharon Rink said. “Some states have, I believe, the bare minimum above. And then there are other states who do a huge panel of tests like the state of Wisconsin.”
Results are sent to the child’s pediatrician, Affinity Health System pediatrician Tim Marsho said.
He said many tests can be false positives, and when that happens doctors do more specific tests or retest and then determine if something more needs done.
The WSLH has played an instrumental role in developing many new innovations that are now routine in newborn screening programs. They were the first to develop and implement routine screening for cystic fibrosis, and now 35 states have followed suit.
In January 2008, Wisconsin also became the first state to screen all newborns for severe combined immune deficiency. The deficiency is sometimes referred to as bubble boy syndrome.
Left undiagnosed, a newborn with SCID, which is a group disorder, usually will die within the first year of life. But if the immunodeficiency is diagnosed within the first three months of life, more than 95 percent of cases can be treated successfully with a bone marrow stem cell transplant.
“Technology in gene therapy is also in development,” Rink said. “It’s a huge advantage to have the screening on the newborn screen.”
“We haven’t found a baby with SCID, but have found babies with an immune deficiency,” said Mei Baker, science adviser at the Newborn Screening Laboratory at WSLH and UW assistant professor of pediatrics.
There are two groups of immune deficiency: primary and secondary immune deficiency. Baker explained HIV, for example, is secondary because the causes are known. SCID is part of primary immune deficiency because the original cause is unknown.
“The message is the test really can pick up … clinically important immune deficiency disorders or diseases,” Baker said.
“We test over 70,000 babies a year,” Klawitter said. “We maybe find a hundred or so that has one of these disorders because these disorders can be quite rare. But for some of these disorders it’s a matter of life and death. … We put an emphasis on, as we say, doing what’s best for the babies.”
Additional Facts Testing procedure
Newborn screening is standard operating procedure in Wisconsin, where screening tests can detect rare, genetic diseases for which early treatment would reduce morbidity and mortality. Twenty-nine tests are nationally recommended; Wisconsin screens about 70,000 babies annually for 48 diseases. For a complete listing of states and the tests they perform: http://genes-r-us.uthscsa.edu/nbsdisorders.pdf