Heidi lives in Salt Lake City, Utah with her husband, Trey, and their four children. Samantha (17) was diagnosed with GAMT deficiency at 5-1/2 years of age. The onset of seizures led to spectroscopy which revealed decreased levels of creatine in Sam’s brain, and DNA testing confirmed the diagnosis of GAMT. Louis (8) was diagnosed with GAMT deficiency and began treatment at birth. Louis is not affected by GAMT. Heidi’s hope is for creatine deficiencies to be screened for at birth and for the development of a treatment for CTD. Heidi works for the Utah Department of Health’s Newborn Screening Program. She also serves as patient advocate representative and Utah team lead for the Mountain States Regional Genetics Network and patient advocate representative for Utah’s Newborn Screening Advisory Committee.
Whitnie is a graduate of the University of Texas with a degree in Public Relations. She lives in the beautiful Texas Hill Country with her husband, Steve. They have three children, Rhett (11), Reid (9) and Cora (7). Reid was diagnosed with CTD at 2 1⁄2 years old. Whitnie is a passionate advocate for CCDS. She has served as a panelist at the FDA Inborn Error of Metabolism public forum and is actively involved in fundraising, marketing, and other initiatives to bring heightened awareness to the CCDS community. Aside from her work with the ACD she also runs the graphic design company, Strauss Design Group, LLC.
Kim is a Co-Founder of the Association for Creatine Deficiencies (ACD) and currently serves as the Director of Advocacy. Her passion for these rare diseases comes from both of her own children being diagnosed with GAMT. Kim is a graduate of San Diego State University with a B.A. in Communications and has over 25 years of sales management and recruiting experience. She has taken her passion for helping children with Creatine Deficiencies to the state and national level, in advocating for Newborn Screening. Kim resides in Carlsbad, California with her husband Grant, and two children, Ty and Paige.
Melissa is the Deputy Director for the Office of Environmental Health and has worked in public health for 25 years with the Mississippi State Department of Health. She is a graduate of the University of Mississippi with a degree in Biology and Chemistry. Melissa lives in Morton Mississippi, with her extraordinary husband of 24 years, Tony. They have two children. Will is 22 and was diagnosed with CTD when he was 12. Charlie is 17. Melissa hopes that her “veteran” status dealing with CTD can help families with younger children diagnosed with the condition successfully navigate their journey.
Laura Trutoiu is a computer scientist and researcher. She holds a PhD from the Robotics Institute at Carnegie Mellon University and a BA in Computer Science from Mount Holyoke College. She has conducted research in several industry labs including Disney Research, Industrial Light and Magic, Oculus Research & Facebook, and currently Magic Leap. Her research spans computer graphics, human perception, and sensing and interaction for virtual and mixed reality systems. Laura lives in Seattle with her husband Amar (CMU PhD), their cat Spocky, and their son Rohan. Rohan was diagnosed with Creatine Transporter Defect in June 2017 when he was 2 and a half years old. Laura is passionate about supporting the potential for scientific discovery to help and serve the rare diseases community in general and creatine deficiencies in particular.
Celeste has her undergraduate degree from the University of North Carolina at Charlotte in Child and Family Development. She has her master’s degree from Western Carolina University in Special Education. Celeste lives outside of Charlotte, NC with her husband (Phil). They have two children, Paisley (6) and Levi (8). Levi was diagnosed with CTD at 5 years old. Celeste is passionate about education—within and outside of the CCDS community and empowering parents. While serving as an ACD Ambassador, she attended multiple events representing the CCDS community in different capacities. She has also advocated at the local, state, and federal levels for rare disease legislation. Celeste has worked in a variety of settings with children with disabilities and currently works part-time in a local school district as a special education teacher.