All babies in Illinois will soon be screened for a rare genetic disorder, thanks to the persistent advocacy of the Robinson family from Oswego. This change is a significant step forward in ensuring early detection and treatment for newborns.
The Robinson Family’s Journey
Benny Robinson, now 20, and his sister Celia, 15, both have the same genetic disorder. However, Celia’s early diagnosis drastically improved her quality of life. Their mother, Beth Robinson, highlighted the importance of early detection, stating, “Their lives are extraordinarily different because of early detection and early treatment.”
In 2004, when Benny was just six months old, his parents noticed developmental delays and frequent seizures. Despite undergoing genetic testing, they couldn’t pinpoint the cause until Celia was born in 2008.
Diagnosis and Treatment
When Celia started showing similar symptoms, the family sought genetic testing at Ann & Robert H. Lurie Children’s Hospital in Chicago. Both siblings were diagnosed with GAMT, a rare creatine deficiency disorder. Dr. Carlos Prada, from Lurie Children’s Hospital, explained, “Creatine is very important for cell signaling and normal function.” Fortunately, the condition is treatable with creatine supplements.
After starting treatment in December 2009, Celia showed immediate improvement, and Benny’s seizures stopped. Beth Robinson described the experience as “bittersweet,” seeing Celia progress rapidly while Benny took his own pace.
Advocacy and Change
The Robinsons, alongside their medical team and advocacy groups, pushed for creatine deficiency disorders to be included in newborn screenings. Their efforts paid off, and in January, testing for these disorders was approved to be added to Illinois newborn screenings. Implementation is expected to take up to two years.
Jerry Robinson emphasized the importance of early testing, saying, “If you test and find this before age 1, your chances of having a child that is as minimally impacted as possible are tremendous.” Beth Robinson added, “Nobody else should suffer the consequences of this disorder if we can treat it.”
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