Carter Dreckman’s unique genetic disorder only affects 500 people worldwide

Carrie Moritz,

Garretson Gazette

            The past 24 months have been world-changing for Luke and Paetyn Dreckman, whose son, Carter, was diagnosed in August 2022 with CTNNB1 Syndrome. CTNNB1 Syndrome is a genetic disorder that keeps him from using or producing enough of a protein, beta catenin, that gives him symptoms very close to those of cerebral palsy. Currently, there aren't any medical treatment options, but there could be. In order to move forward with testing, researchers need more funding.

            When 23-month-old Carter was born, he seemed to be healthy.

            "I had a completely normal pregnancy," said Paetyn, Carter's mother. "He always measured small, but that was about it."

            Both parents said that looking back, they could see the signs- for instance, he had trouble eating, and it took a month before he would really open his eyes. But it was only at their four-month checkup when things really seemed amiss. Carter wasn't yet trying to sit, and hadn't accomplished rolling over at that point. While their pediatrician was okay with taking a wait-and-see approach along with some therapies to encourage his development, she ensured that within a couple months the Dreckmans were going in for an MRI and genetic testing.

            The pediatrician was attempting to find out if Carter had cerebral palsy, the result of brain injuries or neurological development problems which cause issues with muscle tone, eating, and development. An MRI can often find those issues, but Carter's MRI came back normal.

            However, the genetic test showed that Carter had a deficiency on the CTNNB1 gene. This gene is relatively unknown, but a mutation on the CTNNB1 gene causes symptoms that are very similar to cerebral palsy.

            "In fact, they're trying to encourage people with a cerebral palsy diagnosis to go back and get genetic testing, because they're so intertwined," said Luke, Carter's father. "With CTNNB1, your brain function is 100% normal. It's just that the relay from your brain to your extremities or whatever is lost in translation there [at the brain stem]."

            CTNNB1 Syndrome is caused when a mutation or deletion occurs on the CTNNB1 gene, which encodes a protein called beta catenin. Beta catenin helps cells "stick together" and communicate. It is not an inherited disorder, and the mutation or deletion happens spontaneously during fetal development. Only 430 to 500 people worldwide have been diagnosed with CTNNB1 Syndrome. It doesn't have a catchy name, and the families of those diagnosed are faced with explaining what this strange-sounding mutation means.

            Currently, researchers believe it affects around 1 in 35,000-to-50,000 people worldwide, but its first diagnosis didn't occur until 2012, which means most people with confirmed cases are under the age of 15, with a majority under the age of 7. This is because diagnosis must occur via genetic testing, which didn't become widely available worldwide until fairly recently.

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