Heidi Wallis knew something was wrong with her daughter, something her medical doctors were missing. It took more than five years to finally get a diagnosis. It turned out Samantha had a creatine deficiency that could have been addressed and treated at birth if GAMT detection had been part of her newborn screening. 

 Wallis, a Bluffdale resident, is the executive director for the Association for Creatine Deficiencies, an international nonprofit organization dedicated to the three Cerebral Creatine Deficiency Syndromes: Creatine Transporter Deficiency, GAMT deficiency and AGAT deficiency. 

ACD has worked to get GAMT detection included in newborn screenings and the test was recently approved earlier this year, but Utah has screened for GAMT for several years. 

“Utah was the first state in the United States to screen for this disorder, before the federal government said you should do this. So they really are trailblazers,” Wallis said. “It's been kind of amazing how Utah has been the center for creatine deficiencies and very appropriate that this is where we ended up starting our first research center.”

In March, ACD announced the launch of the new Creatine Deficiency Research Center at the University of Utah. ACD has pledged $240,000 to put toward this multi-year initiative, in conjunction with ARUP Laboratories, that seeks to discover new diagnostic tools and therapies for CCDS.

On June 10, the Wallis family joined two other local families to participate in the annual Walk for Strength at Bluffdale City Park. The event raised funds to support research looking for a cure for CCDS. While the genetic disease is rare, newborn testing has already paid off for the Tribe family from American Fork, whose son Woodward, or Woody, was born with GAMT in 2020. 

Woody’s body doesn’t make creatine, but when he tested positive for GAMT as a newborn, doctors were able to provide supplements that make up for the deficiency and allow him to live a normal life. 

“It was so strange because he was a perfectly healthy baby,” Woody’s mom, Becky Tribe, said. “He even got discharged from the hospital early because he did great on all his other tests. It was because, in utero, he was getting creatine from me. So the first few days of his life, his creatine levels were pretty good and normal. And then they started dropping after he was born.”

Five children in Utah have been diagnosed with CCDS. Now ranging in age from 2 to 19, the children have different outcomes, based on when they started treatment. GAMT causes developmental delays that are often misdiagnosed. As treatment is delayed, it causes a buildup of toxins in the brain that create seizures and developmental delays. 

Two of the children, brothers, have Creatine Transporter Deficiency, which has no treatment or cure. The brothers will need daily assistance for the rest of their lives. That’s why research is so important to these families, and others struggling with CCDS.

“[Walk for Strength] is a way for all of us spread out around the world with these rare diseases to feel like one community,” Wallis said. “We share our pictures and we see each other and we know we're all fighting for the same purpose, to raise awareness and increase research for these disorders.”

For more information, visit creatineinfo.org. λ