Special Message to CCDS Community from Former ACD Board Chair Laura Trutoiu
When Rohan was diagnosed with Creatine Transporter Deficiency, or CTD, in June of 2017, my world was shattered. Continue reading
The Association for Creatine Deficiencies (ACD) is playing an active role in funding research to find a cure and treatment for Cerebral Creatine Deficiency Syndromes (CCDS), and a cornerstone of this effort is the ACD Fellowship program. Continue reading
The Association for Creatine Deficiencies (ACD) is proud to partner with The Coriell Institute for Medical Research, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with Cerebral Creatine Deficiency Syndromes. Coriell is an independent, non-profit biomedical research center dedicated to the study of the human genome. We need your help as a community to donate cell samples to enable research!
Kim Tuminello, Director of Advocacy for ACD, recently sat down with Dr. Ruben Bonilla Guerrero, who is the Medical Director of Medical Affairs for Admera Health, to talk about his professional background, his current position, and how pharmacogenomics (PGx) could possibly help the CCDS community. Continue reading
The Association for Creatine Deficiencies (ACD) welcomes Dr. Ton DeGrauw as part of the Scientific Medical Advisory Board (SMAB)! Dr. DeGrauw joins Dr. Longo, Dr. Andrews, Dr, Barshop, Dr. Chan, Dr. Morita, Dr. Salomons, Dr. Schulze, Dr. Skelton, Dr. Stockler, and Dr. Young as advocates for Cerebral Creatine Deficiency Syndromes (CCDS). Continue reading
By Judith Miller, PhD, and Rebecca Thomas, MA – The Children’s Hospital of Philadelphia
Creatine Transporter Deficiency (CTD) – work presented at the Society for Developmental and Behavioral Pediatrics conference in Savannah, GA. Continue reading
Hi. My name is Heidi Wallis. I am the mother of four children- two with GAMT and two without.
There are a few things I want to be sure you understand about children with GAMT. First is that they do not look different. They are not instantly recognized at birth as having GAMT. I tell you this, because the burden of diagnosing these children should not be on their primary care physician. Also, not every GAMT child develops symptoms Continue reading
Benny was undiagnosed until 5 years of age. He attends a special education classroom where he requires 1:1 care. He battles seizures, Global Developmental Delays, is nonverbal, requires a communication device, and will need life-long care.
Paige has been treated since birth. She is a 6 year old in the 1st grade, and has never required therapies. She has never needed interventions of any kind and attends a typical classroom. She has never had a seizure.
Hello, my name is Kim Tuminello and I am a mother of 2 children with GAMT. I’m also the President for the Association for Creatine Deficiencies and I’m here today to represent my family, and our entire Creatine Deficiency Community. I’m hoping that if you didn’t know about this particular genetic disorder in the past, Continue reading
