As of 2026, all newborns in Illinois are now being screened for GAMT, Guanidinoacetate methyltransferase deficiency.
The rare, genetic condition affects the body’s ability to make creatine, which can cause severe neurological and behavioral problems and affect muscle development.
Siblings Benny and Celia Robinson were diagnosed at age five and one in 2009.
“I think one of the most powerful tools has been seeing what early treatment looks like. You know, the difference in the daily lives of the two of them,” said their mother, Beth Robinson.
Celia’s diagnosis at an earlier age made a huge impact on her quality of life.
“We’re excited to see where Celia is going to go, and next fall she’s going to head off to college,” said their father, Jerry Robinson.
“She’s a competitive dancer, I mean, the recovery is just amazing,” he continued.
Benny’s developmental delays have left him nonverbal, but his seizures have stabilized with intervention and treatment.
“We have been able to witness what an early diagnosis means, and it’s changed the trajectory of both their lives,” Beth Robinson said.
The family has been advocating to add GAMT deficiency to Illinois’ Newborn Screening program for more than 15 years.
Their hard work paid off in March, when the disorder was officially added.
“It’s been a really rewarding experience the last few years and especially this year,” Jerry Robinson said. “We had a little, private toast at dinner the day that the newborn screening went live in the state of Illinois, and the kids were really excited about it too because they’ve been along for it.”
It’s already having an impact for other families, too.
“We did get one, kind of, positive identified case already,” said Dr. Sameer Vohra, the director of the Illinois Department of Public Health. “We can get the right kind of therapies and treatments to people with GAMT and really make a difference in a family’s life.”
The Robinsons’ different developmental outcomes illustrate why early detection is key, since early diagnosis and treatment can improve outcomes for people with GAMT deficiency, according to IDPH.
“The first newborn test [was in] 1965,” Vohra said. “Now, we’re in 2026, and we have 68. And I think as we see all of the potential medical discovery, how can we find an understanding, how to detect them, but then also the innovative therapies to make sure that our residents are able to live meaningful and productive lives?”
The federal government recommended screening for GAMT in 2023, and the condition was approved to be added to the Illinois NBS in 2024. Screening began in March 2026.
NBS is a mandatory public health screening program. Fees were significantly increased this year, a result of COVID funds ending. However, the cost is typically covered by most insurance.
Newborns who test positive and are not insured will qualify for metabolic formula at no cost.
“It means everything to know that other people will benefit. And the next best thing than having the newborn screen is to be able to help advocate for it,” Beth Robinson said.
“That nobody else will have to go through this, and that lives will be changed because of it, and we can’t wait to see what that looks like,” she continued.
Jerry Robinson said the past five or six years with Ben were “really challenging,” as they spent time in and out of hospitals, “dealing with the bad side” of the disorder.
“And if we could help prevent that for anybody, we’d absolutely want to do that,” he said.
Hence then, the article about new illinois newborn screening inspired by suburban family yields early success was published today ( ) and is available on NBC Chicago ( Middle East ) The editorial team at PressBee has edited and verified it, and it may have been modified, fully republished, or quoted. You can read and follow the updates of this news or article from its original source.
Read More Details
Finally We wish PressBee provided you with enough information of ( New Illinois newborn screening inspired by suburban family yields early success )
Also on site :
- Dolly Parton Secretly Flew to Germany for Experimental Cancer Treatment Before Death
- Jordan Peele’s Monkeypaw Productions and Universal Film Team With American Cinematheque and Beyond Fest for ‘No Drama’ Initiative (EXCLUSIVE)
- VMAs Producer Van Toffler on Nirvana & George Michael Tributes at 2026 Awards and Why the VMAs Are Best at Their Most ‘Age, Genre & Color Blind’