At about four months old, Dominic Henriquez's doctor was concerned about the size of his head. His mother, Jeanette Henriquez said that started an 18-month long process to get a diagnosis for Hunter Syndrome — a progressive, genetic disorder that affects physical and mental development.
The diagnosis was confirmed with one, simple urine sample. But Henriquez said the months-long search meant Dominic was almost two by the time he started treatment.
"His fingers had already like curled up a little bit," Henriquez said. "The disease had already progressed a little bit."
Dominic's cells lack a certain enzyme that is critical for development. There's a treatment that delivers that enzyme through an IV infusion. But first, children need a diagnosis.
That's where the Newborn Screening Program comes in.
Since the 1960s, Texas has screened newborns for a variety of rare diseases and conditions — like sickle cell anemia and cystic fibrosis. But Hunter Syndrome wasn't added to the list until this year; it was one of four added to the rare disease panel in 2025.
While the condition begins progressing as soon as the child is born, children typically don't present symptoms until they're a few months, or sometimes years, old. This makes it difficult to know what diagnosis to look for until the symptoms are much more prominent.
"It's usually life limiting," Henriquez said. "When he was diagnosed in 2011, the doctors weren't sure if he would live to see double digits."
Today, Dominic is a 10th grader at Prosper High School who likes movies and taking music classes. He'll turn 16 in December.
Henriquez had 18 months to process the idea that her son may have a serious condition, which she was still hesitant to believe when he was diagnosed. But an earlier diagnosis could have meant earlier treatment – leading to a slower progression of the condition.
Now, parents in Texas won't have to wait for the symptoms to develop to receive a diagnosis like Dominic's family did. But even with a diagnosis, families still face obstacles when it comes to receiving care.
The list grows
Hunter Syndrome, also known as mucopolysaccharidosis type II or MPS II, is extremely rare – there are only about 500 people in the U.S. with the diagnosis. It was added to Texas' Newborn Screening Panel earlier this year along with three other conditions: Pompe Disease, mucopolysaccharidosis type I or MPS I, and infantile Krabbe Disease.
All four conditions are included on the U.S. Department of Health and Human Services Uniform Recommended Screening Panel created by U.S. Department of Health and Human Services. State law requires Texas to test for any condition on that panel.
The four conditions were added to the federal list years ago, but Texas wasn't able to start testing until this year.
That's because it took time for the lab in Austin to set up for the additional testing, said Susan Tanksley, deputy laboratory director for Texas' public health lab.
"We needed additional space," Tanksley said. "We kind of had to move things around in our lab in order to make the space for the additional equipment that was needed."
The state now screens for almost 60 hard-to-catch conditions.
"The whole purpose of newborn screening is to identify children while they're still healthy and asymptomatic, and get them into treatment," Tanksley said.
The Texas Department of State Health Services said beginning on Jan. 1, 2026, newborn screen fee will increase from about $70 to almost $95 to account for new conditions and "to support increased costs for operations."
From diagnosis to treatment
Tanksley helps test more than 800,000 newborn screens each year – two samples per newborn.
"Every baby born in the state of Texas is required to have the newborn screening specimen collected," Tanksley said.
The first sample is collected between 24 and 48 hours after birth, and the second is collected a week or two later, Tanksley said, usually at a well child visit.
Part of the newborn screening program is to connect the almost 1,000 Texas newborns that are diagnosed each year to treatment for their rare conditions. Once a baby has a positive result, the state will refer them to a clinic or experts that can provide care.
Dr. Luis Umaña, a metabolic geneticist and a board-certified pediatricianwho works at UT Southwestern and Children's Health in Dallas, called the newborn screen "one of the greatest successes in public health."
"The newborn screen is one of the greatest successes in public health.”
UT Southwestern says it's the only clinic or "referral center" in North Texas that covers metabolic disorders for the newborn screen.
"Texas is a very large state," Umaña said. "Our catchment area is quite big. We even receive patients from the panhandle in Texas, patients from even sometimes neighboring states like Oklahoma who live [on] the border, East Texas."
UT Southwestern is notified anytime there's a positive test in the area it serves, also known as a "catchment area."
Umaña helps guide primary care providers, like pediatricians and family doctors, through the process of confirming the diagnosis and how to refer or transfer children to his clinic for emergency care and management. Once the pediatrician has talked to the family, Umaña said his clinic arranges a way to meet with them.
"When you hear that your baby might have a very serious condition, it's a very stressful time," he said."For that reason, we bring all of those families to our clinic, and we review with them the implications and the goals and how we're going to treat them and follow the children through their lives."
Umaña's team includes genetic counselors, dieticians, social workers and other providers to create a well-rounded approach to care.
"That can try to cover as many bases to help these families through what is a very difficult time," Umaña said.
Ensuring patients have access to treatment quickly is a major part of providing treatment. Umaña noted that two of the four conditions added this year, Pompe and Krabbe disease, require treatment to start during the first month of life to improve outcomes.
Treatment can get complicated
Umaña said there's a lack of knowledge and awareness of these diseases, even among medical professionals.
"Many physicians have heard of them, but they have never really had the chance to encounter them through their practice or their experience," he said. "There's a lot of need for better awareness about what these conditions are, how we can help them manage those conditions and what we can offer all of these families in North Texas. "
However, there are also some obstacles that require more than just awareness to address.
For example, because of how much area the UT Southwestern clinic is responsible for, Umaña said traveling to the clinic can become an issue for many families.
There are metabolic centers in both Austin and Houston, but Umaña said UT Southwestern still provides care for patients in those areas.
"This could be very long drives," Umaña said. "We're working ...to offer some telemedicine to these families who live in distant places to kind of take one of those limits away."
Treatment can also be very expensive because of how rare these diseases are.
"Both the state and insurers have different programs to try to help families," Umaña said. "But not everyone will be able to have access to all of this."
Jeanette Henriquez navigated those challenges herself after Dominic was diagnosed – all while taking care of day-to-day life and working a full-time job. She watched others face the same hurdles. She started the Hunter Syndrome Foundation to help other families and raise awareness of the disease.
Henriquez said families need resources and support available quickly.
"There could be a parent that will never follow up because they just don't understand what this means," she said.
Especially as new conditions get added, Henriquez said she's worried about the state having resources available.
"There's so many frustrations that come with it," she said. "We kind of are forced to do what we need to do."
“We kind of are forced to do what we need to do.”
Dominic travels to Chicago each month to get treatments. He goes to Cincinnati to see another specialist. He's also enrolled in a clinical trial based in North Carolina.
"There's a lot of parents that have to basically either reduce their hours or even quit their job in order to meet the needs of the kid," Henriquez said. "And then, how are you going to pay for all of these therapies?"
Newborn Screening a big step forward, despite obstacles
Henriquez said she understands the devastation parents may experience with the newborn screen.
"You're just so excited and so many happy emotions that you just gave birth to a baby," she said. "Then all of a sudden they're telling you these horrible things that could potentially happen to your child."
But, Henriquez said the newborn screen allows children the opportunity to get treatment very early on.
"We lost 22 months basically of getting this enzyme," she said.
Through her advocacy work, Henriquez has done a lot of work to raise awareness of Hunter Syndrome, including watching states run pilot screening programs before the condition was added to the federal list.
"I know some families that are able to get treatment within the first few weeks of their newborn's life," she said. "That gives the babies a better chance or a better outcome for their future."
Despite the delay in treatment, Dominic is still able to walk, talk and eat – things his doctors told Henriquez he might not be doing by his teens. Henriquez said she's grateful to get to spend time doing things that Dominic loves – like going to restaurants and playing sports.
"It's just thanking God daily that we're still able to do all that," she said.
She said that while there is never a good time to learn your child has a rare disease, earlier diagnoses and advancements in treatment give her hope.
Abigail Ruhman is KERA's health reporter. Got a tip? Email Abigail at aruhman@kera.org.
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