Executive Director of Association for Creatine Deficiencies, Patient Advocate, Newborn Screening Advocacy, Cerebral Creatine Deficiency Syndrome Advancement, Patient Engagement in Research
A decade ago, I walked into ACMG S.L.C. with my two children diagnosed with GAMT and heard the folks at the Association for Creatine Deficiencies booth asking the question: “Are you familiar with creatine deficiencies?” Most attendees said no. That moment changed everything for me- I realized how critical the patient voice was in this space and decided to get involved. At the time, ACD was what you might call an “early-stage startup,” working to build partnerships and fuel interest in an important mission. Fast forward to ACMG 2025 in L.A., and the landscape looks very different-many attendees now know about creatine deficiencies, routinely screen for CCDS, and even have patients in their care. You might say we’ve entered the “growth stage.” Our progress over 10 years has been significant: GAMT was added to the RUSP and 40% of newborns in the U.S. are now screened, multiple drug development and discovery projects are underway, a potential CTD treatment has entered phase I of trials (CERES BRAIN Therapeutics), newborn screening efforts are expanding to include CTD, and research into endpoints and gene therapy is advancing. This week at ACMG, we focused on strengthening partnerships, connecting in person with our ClinGen Resource CCDS Variant Curation Expert Panel members, Chan Zuckerberg Initiative Rare As One colleagues, fellow advocacy groups (like HCU Network America), lab directors (special shoutout to Rajesh Sharma who presented three posters on GAMT NBS), and research and industry partners. To all those who support our work-thank you. Together, we are driving change: finding treatments for CTD, improving therapies for GAMT and AGAT, and ensuring newborn screening prevents the heartbreaking diagnostic odyssey so many families face. We’ll still be here in 2035, but I hope by then we’ll be “late-stage” in the best way-because our mission will be fulfilled, and we won’t be as needed. I hope you’ll still be with us on this journey. ???? Simona Bianconi, Christine Preston, Meredith Weaver, PhD, ScM, CGC, Kristen Vanags, Sarah Chamberlin, Danae' Bartke, Liz Carter, Keith McArthur, Lauren Williams, Whitnie Strauss, Kimberly Tuminello, Linda Cooper, Melissa Parker, Liza Squires, M.D., Seung C.