The ACD was established to unite the Cerebral Creatine Deficiency Syndrome community. This includes patients, families, and allied health care professionals. The ACD board members welcome any questions or comments concerning CTD, GAMT, AGAT, or CCDS at the email addresses listed below.
Kim is a graduate of San Diego State University with a degree in Advertising, and has over 22 years of experience in sales management and recruiting. She has two children with GAMT. Her son was diagnosed at 10 months old, and her daughter was diagnosed with an amniocentesis and treated since birth. At that time, she vowed that she would help make a difference for all children and their families living with creatine deficiencies, and has been working at it ever since. Kim resides in Carlsbad, CA with her husband Grant and two children, Ty and Paige.
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 (6), Reid (4) and Cora (2). Reid was diagnosed with CTD at 2 1⁄2 years old. Aside from being a busy stay-at-home mom, creative thinker, baker, and occasional blogger, Whitnie is a passionate advocate for CCDS. Whitnie 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.
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 22 years, Tony. They have two children. Will is 20 and was diagnosed with CTD when he was 12. Charlie is 13. Melissa hopes that her “veteran” status dealing with CTD can help families with younger children diagnosed with the condition successfully navigate their journey.
Heidi lives in Salt Lake City, Utah with her husband, Trey. They have four children. Samantha (12) was diagnosed with GAMT deficiency at 5-1/2 years of age, after years of an incomplete diagnosis of “global developmental delays”. Ultimately, the onset of seizures is what led to her GAMT diagnosis by an MRI spectroscopy and then DNA testing. Sam has been under treatment and progressing in her recovery ever since. Ellie (10) and Bubba (8) are unaffected by GAMT and are Sam’s best cheerleaders. Louis (4) was diagnosed with GAMT deficiency and began treatment at birth. He has been developing on par with peers and this is expected to continue. Heidi’s hope is to better inform the medical community of the signs of creatine deficiencies and to reduce misdiagnosis and delayed treatment through the inclusion of creatine deficiencies on every state’s newborn screening.
Linda is a licensed vocational nurse and a small business owner. She resides in Southern California with her husband, Bob. They have two sons, Kyle (27) and Chad (21). Chad was diagnosed with an unspecified mitochondrial disease at age 2 and at age 9 was confirmed to have CTD. Linda has also served as a Board Trustee for the United Mitochondrial Disease Foundation (UMDF).
Laura is a genetic counselor and earned her Masters in Human Genetics from the University of Michigan. She has a son, Adam (8), a step-daughter, Ava (6), and fraternal twins Ryan and Daniel (4). Ryan was diagnosed with GAMT serendipitously via a multi-gene epilepsy panel shortly before his third birthday. Laura hopes that the combination of her personal and professional experiences has placed her in a position to support other parents adjusting to a CCDS diagnosis, to educate medical professionals, and to advocate for Newborn Screening. Laura resides in Rochester, NY with her children and her partner, Tim.
Melissa Klor is a graduate of the University of North Carolina at Chapel Hill with a degree in Journalism and Mass Communication. She currently works as an insurance underwriter for a large brokerage firm. Melissa resides in Eastern North Carolina with her husband, Wes. They have two children; John (4) was diagnosed at 13 months with GAMT and Sarah (2). Melissa also enjoys photography, the beach, boating, swimming, sunny weather and spending time with her family and friends. Her dream is that someday every child with a CCDS will be diagnosed and treated from birth!