All babies in Illinois will soon be screened for a rare genetic disorder, in part due to the advocacy work of the Robinson family from west suburban Oswego.
Benny Robinson, 20, and his sister, Celia, 15, share the same genetic disorder diagnosis, but Celia’s diagnosis at an earlier age made a huge impact on her quality of life.
“I mean, their lives are extraordinarily different, strictly because of early detection and early treatment,” said Beth Robinson, their mom.
Benny Robinson was 6 months old in 2004 when his parents, Beth and Jerry, noticed something was wrong.
“He wasn’t imitating. He wasn’t babbling. He wasn’t attempting to move,” Beth Robinson said.
The family brought in early intervention therapies and underwent genetic testing but never got an answer for why Benny suffered seizures, sometimes dozens in one day, and other developmental delays that left him non-verbal.
That is until the Robinson’s third child, Celia, was born in 2008.
“She started to be presenting just like Benny was when he was little, and missing milestones and just sort of failing to thrive,” Jerry Robinson said.
The siblings underwent genetic testing again, this time at Ann & Robert H. Lurie Children’s Hospital in Chicago.
Benny and Celia were diagnosed with GAMT, a rare creatine deficiency disorder.
“Creatine is very important for cell signaling and normal function,” said Dr. Carlos Prada, the Division Head of Genetics, Genomics and Metabolism at Lurie Children’s Hospital.
While rare, the condition is treatable.
“It is actually something that you can supplement creatine in order to overcome that deficiency,” Prada said.
“We started in December of 2009, right? Same treatment, same regimen, and two weeks later, Celia was crawling, so it was almost immediate, and then Benny never had a seizure after that,” Beth Robinson said. “It’s definitely bittersweet, because we watched Celia begin to progress. And then she passed him. But the good news is that Benny, he also is progressing at his own pace.”
The developmental discrepancies illustrate why early detection is key. The Robinsons worked with their medical team and other advocacy groups to push for creatine deficiency disorders to be part of the heel stick screening that newborns undergo in the hospital.
“Adding GAMT or creatine disorders will be a significant milestone because you can diagnose them first week, second week of life,” Prada said.
The advocacy worked, and testing for creatine deficiency disorders was approved in January to be added to newborn screenings in Illinois. The next step is implementation, which can take up to two years.
“If you test and find this before age 1, your chances of having, you know, a child that is as minimally impacted as possible, you know, are tremendous,” said Jerry Robinson.
“Nobody else should suffer the consequences of this disorder if we can treat it,” Beth Robinson said.