DSHS celebrated a bittersweet victory last month at its Austin headquarters as it hosted public health administrators, legislators and families affected by X-linked adrenoleukodystrophy — a rare, potentially fatal genetic disorder that damages the nervous system and adrenal glands. The agency recently added testing for X-ALD to its expansive Newborn Screening Program.
The X-ALD screening brings the total of serious medical disorders and conditions in the program’s panel to 54.
The Texas Legislature appropriated $1.2 million to DSHS for the startup cost of implementing X-ALD screening and $7.9 million for ongoing testing. Senate Bill 748 established a newborn screening preservation account, which will provide DSHS with fiscal sustainability and laboratory resources to roll out additional screenings.
Texas Sen. Lois Kolkhorst and Rep. Sarah Davis, who both helped champion bills to make the additional screening possible, expressed gratitude at the reception and applauded the massive effort.
“The newborn screening preservation account is even more important because you shouldn’t have to fight this fight every session every time the Fed (federal government) says there’s a new disease we should be screening for,” Rep. Davis said. “This legislation will literally help save the lives of Texas babies and help give their families peace of mind.”
The legislators said the strong advocacy from families affected by the rare disorder was the guiding charge in ushering the bills into law. Eve Lapin, of Houston, was spurred to advocacy for the screening after losing her first-born son, Oliver, to the disease 15 years ago.
Her son died a day before his 12th birthday, just a few years after being properly diagnosed for X-ALD. Oliver was born a happy, healthy baby and was a sweet, smart toddler, Lapin said. When he was about 7 years old, he started forgetting things and urinating himself often. By the end of first grade, he was having trouble maintaining focus and attention and began constantly misbehaving. Many doctors misdiagnosed and medicated the boy as his symptoms continued to worsen.
Finally, when Oliver was 8, an MRI revealed he had X-ALD. At that point in the diagnosis, the disease had progressed too far for any medical treatment to help him.
“We cared for him at home and gave him love, comfort and dignity as he continued to lose his abilities,” Lapin said. “Over the ensuing four years, he lost his ability to see, walk, talk and to move. He ultimately passed away while at home. There’s a big hole in my heart, and I miss him every single day.”
After learning of Oliver’s diagnosis and knowing the disease is genetic, Lapin got her two other sons screened and encouraged other extended family members. Her middle son, Elliott, and a nephew screened positive for X-ALD. They both underwent stem cell therapy. Elliott is now a Stanford University graduate working as a reporter for the Houston Chronicle, and Lapin’s nephew is a college student.
“The tremendous tragedy is that Oliver had to be the screening for the other two boys in the family,” Lapin said. “If only we would have known Oliver had ALD, we would have treated him as well, and today he’d be a 27-year-old man living his adult life.”
DSHS operates the largest newborn screening unit in the world, testing approximately 400,000 babies a year twice. The laboratory is already working to get its 55th screening in place, which will test for spinal muscular atrophy. In Texas, newborns are also screened for hearing and critical congenital heart disease. These are point-of-care screenings done in birthing facilities.
To learn more, visit the DSHS Newborn Screening Program page.