AUSTIN (Nexstar) — Newborn babies in Texas are now getting tested for adrenoleukodystrophy, commonly known as ALD.
Texas joins 15 other states in testing for this condition in every baby born in the state.
The rare genetic disorder occurs primarily in males and affects the nervous system, as well as the adrenal glands. It impacts around one in every 18,000 people.
State health officials, legislators and parents toured the Texas Department of State Health Services’ newborn screening laboratory to celebrate the addition Thursday.
“This accomplishment of adding ALD to newborn screening in Texas took a village,” Eve Lapin said. “It took a village to achieve and for some of us, it also came from tremendous loss.”
Lapin is with the Stop ALD Foundation. Her oldest son out of her three boys, Oliver, had ALD. Though Oliver was a happy and healthy boy, when he was about seven years old, he started forgetting things and repeating himself, Lapin recalls.
“By the end of first grade, he started having trouble staying focused and paying attention,” she said. “This once bright and wonderful little boy started to misbehave in school.”
Oliver was misdiagnosed by several specialists and his symptoms continued to worsen, Lapin said. Doctors eventually diagnosed him with ALD when he was around eight-and-a-half years old, after he received an MRI.
“When we learned of Oliver’s diagnosis, the disease had progressed too far for any medical treatment to help him,” Lapin said.
He passed away at home the day before his 12th birthday.
“There’s a big hole in my heart and I miss him every single day,” Lapin said.
Everyone in Lapin’s family was eventually tested for ALD as well. Her middle son, Elliot, had the gene and so did her nephew. Stem cell transplants helped them both.
“The critical point is that if you treat a child born with ALD before the disease process begins and manifests in clinical symptoms, the disease progression can be halted,” she said.
The state’s newborn screening laboratory tests around 800,000 specimens every year for around 400,000 newborns. Every Texas baby is tested for 54 disorders or medical conditions.
However, Texas’ Newborn Screening Panel does not include all the disorders that are on the federally Recommended Uniform Screening Panel, because in the past, implementation has been tied to the availability of state funding.
The RUSP is the list of disorders from the Secretary of the Department of Health and Human Services recommended for states to have as part of their newborn screening programs.
During the 86th Legislature, legislators approved funding and legislation to ensure that Texas can add conditions as they’re recommended on the federal level without having to repeatedly return to request help in the future.
The Newborn Screening Preservation Account will allow state health officials to maintain the screening laboratory and add conditions to its program in a self-sustainable manner. Rep. Sarah Davis, R-Houston, Rep. Senfronia Thompson, D-Houston, and Sen. Lois Kolkhorst, R-Brenham, helped lead the efforts.
According to the Texas Department of State Health Services, there is funding that will allow the state to add testing for Spinal Muscular Atrophy as well.
“The investment that you all made and fought for to say, ‘We don’t just need to add this in, but we need to give enough funding for the Department of State Health Services to add in others as they become available,’ is a testament to the commitment that you all have to families in the state of Texas,” said Dr. Courtney Phillips, HHS Executive Commissioner.