- Utah's Newborn Screening Program finds 45 genetic disorders shortly after a baby is born.
- New conditions are added to the list as screening tests and treatments become available.
- Hunter syndrome, a severe genetic disorder, was added to the screening, which is mandatory.
A new genetic disorder, Hunter syndrome, has been added to Utah’s Newborn Screening Program, bringing the total to 45 conditions that can be identified shortly after a child is born — and before symptoms appear and take a toll.
The goal of the screening program, which has been growing since its inception in the 1960s, is to let parents and health care providers know that a child has a disorder that might otherwise take years to show up and that could cause irreversible damage because it wasn’t discovered early enough, said Mary Rindler, Newborn Screening Program manager in the Utah Department of Health and Human Services.
She said the program adds disorders to be tested for as screening tests and treatments become available.
Those are two of the requirements for a disorder to be added to the screening test Utah mandates immediately after birth. Besides having an available screening test and some treatment options, the third requirement is that an early diagnosis is needed for the treatment to succeed.
Rindler said about 48,000 babies are born in Utah every year and in about 1 in 300 of the screening tests, a condition is found. When the state gets the lab report, the pediatrician is alerted to let the parents know; if the pediatrician isn’t reached in a timely manner, families are notified directly. And experts in the department can help families figure out next steps should the screening test reveal an abnormality.
Why screen newborns for genetic disorders?
The Utah Legislature created the program more than a half century ago to help all babies born in Utah have “the best chance at lifelong health,” according to the state’s public health laboratory website.
The first condition tested for — and the one with which families of newborns are perhaps most familiar — was phenylketonuria (PKU). Pediatrician Paul Wirkus said early screening also included a test called galactosemia to see if a baby can metabolize galactose, a simple sugar found in milk, since a buildup becomes toxic. They looked for low thyroid, too.
Wirkus said right after the test was first expanded, three of his very young patients had positive tests in a single month. None of their families would have known until much later and there was no way for him as a physician to pick up on those serious medical issues early, either.
One had a hemoglobin problem that was successfully treated.
Another had a metabolic problem that “can cause a lot of really bad things, like seizures and developmental delays,” he said. The treatment was simply taking a specific supplement daily. The baby has grown into a healthy adult.
The third child had an adrenal insufficiency that could have been deadly. Instead, that baby was hospitalized and treated and has done “very very well,” Wirkus said.
“These are things we wouldn’t have known about,” he said, crediting the newborn screening with changing the course of many lives since such testing began.
“The beautiful thing for me is that a child is enough of a black box anyway — we all worry about things with our children — and some of these things can be so mysterious and stakes for misdiagnosis so high." He calls the ability to know and intervene “a wonderful thing, a blessing.”
Rindler notes that treatable doesn’t mean curable. “None of them are cured.” But if you know ahead of time, before symptoms appear, the course of the disorder can be altered, she said.
She used the example of PKU, an inherited metabolic condition that’s the result of an enzyme deficiency that leads to build up of a specific amino acid. When you know the child has the condition, dietary changes can prevent toxic buildup in the nervous system, preventing irreversible brain damage, including intellectual disability and seizures.
Medline Plus reports that the prognosis for PKU, discovered early, is “excellent, allowing for normal development.”
A family prepared for the future
It was because of Utah’s routine newborn screening that Jazmynn Pok and Anthony Duke-Rosati learned their middle child, Kiri, has a devastating genetic disorder called cerebral adrenoleukodystrophy — CALD for short — that unchecked will eventually take his life.
As Deseret News earlier described the impact, he is likely to suffer a “combination of hearing and vision loss, a tough time walking, inability to control bladder or bowel, seizures, and trouble chewing or swallowing or talking. Many children with CALD over time need a feeding tube, become blind, lose their ability to move on their own and eventually suffer complete paralysis, before their bodies shut down entirely.”
The toddler has no real symptoms yet and is a bright, joyful little boy. But without a bone marrow transplant, which will require a stranger who matches since his family members do not, his future will be short.
The screening test that revealed the condition has given them time to prepare, from learning about the disorder to launching a massive “Hope for Kiri” campaign to try to find a marrow donor, encouraging people to get their cheeks swabbed to see if they are a match.
A transplant in a timely manner could give him a full life. But like many of the disorders the screening tests identify, damage that has already occurred will not be reversed. Time matters.
Adding Hunter syndrome to the test
The latest addition to the testing is Hunter syndrome, also known as MPS-II, which is both rare and extremely serious. According to the Utah Department of Health and Human Services, “Early diagnosis and treatment of Hunter syndrome is essential to prevent developmental delays, irreversible organ damage, and early death. The rare disorder affects approximately 1 in every 100,000 to 170,000 newborns in the U.S. each year. We estimate that the Utah newborn screening program will help detect this condition in a Utah infant every one to two years.”
Hunter syndrome is a storage disorder, according to the Every Life Foundation for Rare Diseases, and it can affect many organs, including the heart, the brain, the spleen and the liver. A gene mutation causes a shortage of a crucial enzyme that helps control levels of sugar molecules inside cells. Without that enzyme, those sugar molecules build up and can create serious problems. Hunter affects males more often than females and two-thirds of those diagnosed with it have a severe form.
The foundation reports about 500 boys in the U.S. have Hunter syndrome, as do about 2,000 worldwide. Those with the severe form usually don’t live beyond age 10 to 15. Those with the less severe form do not develop intellectual disabilities and may live into adulthood.
The foundation said that early screening for Hunter, which is also routinely done in Illinois and Missouri, can lead to early treatment that “can mitigate and in some cases even stop the progression of the disease,” though it doesn’t reverse existing damage.
“Newborn screening provides the opportunity to receive a diagnosis when the child is still asymptomatic and, more importantly, to initiate treatment that yields an optimal, long-term impact,” the foundation reported.
The screening is mandatory, with one exception, since early detection is key to how well the child will fare. An exemption is available if “parents object on the grounds that they are members of a specified, well-recognized religious organization whose teachings are contrary to the tests required by this section.” They have to complete a form and submit the religious objection.
The conditions being looked for include amino acid disorders, endocrine disorders, fatty acid oxidation disorders, hemoglobin disorders, immunodeficiency disorders, lysosomal storage disorders (including Hunter syndrome), neuromuscular disorders, organic acid disorders and seven listed as “other disorders.”
In the category labeled “other” disorders are cystic fibrosis, a specific heart disorder and congenital hearing impairment.
A growing list of challenges — and treatments
Depending on the disorder, treatment may mean managing symptoms to reduce damage. In some cases, enzyme replacement therapy is used. For some, a bone marrow transplant is the solution. While each of the conditions being tested for are quite rare, “when you combine them all together, it comes less rare,” Rindler said. Lots of families have benefited greatly from the early knowledge that the newborn screening provides.
Rindler is a genetic counselor by trade, “so not a person you want to meet,” she said. “But if you need me, I am here for you.” The same is true of the screening, she added. One hopes nothing comes up positive in the screening, but if it does, the program can provide some direction on what to do and help facilitate reaching the right experts. “If you need to know us, we know what to do for you.”
Over the years, dozens of other tests have been added to the screening program. Blood is collected once between 24 and 48 hours after a baby is born and again at the two-week appointment with the child’s pediatrician, typically seven to 16 days after birth. After blood is collected from a small heel prick and placed on a screening card, it’s sent to the Utah Department of Health and Human Services Public Health Laboratory.
Babies are also screened in the hospital for critical congenital heart disease and early hearing detection and intervention.
Wirkus said the hearing screening has made a huge difference, offering children with hearing problems the chance to develop normally. “When I started practicing, we had to guess whether kids could hear. People would clap by the kid and whatnot. Now we know if the child has congenital deafness before he’s a month old and there are all sorts of things we can do for that child.”
If a baby is not born in a hospital, parents are expected to purchase a kit before the child is born and “correctly collect and submit both samples.”