Tag Archives: Newborn Screening

“Oops, Sorry!” – Jess Today I am writing about one of William’s favourite phrases – “Oops, sorry!”. He is 5 and has Creatine Transporter Deficiency (CTD).

“Warning: Rant Up Ahead” – Beth I feel like my previous entries have been thoughtful and reflective, and admittedly, very therapeutic for me. This one is a little rough around the […]

GAMT Newborn Screening Update – Kim In May, the ACD met with the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). GAMT was nominated for inclusion on the […]

“Spiro and I” – Janet My Creatine Transporter Deficiency journey began September 5th, 2009 with the birth of my son Spiro. Although I didn’t know it at the time, our […]

“The Seizure Battle” – Heidi When Samantha was five, she began having absence seizures. The quick, least scary type of seizures (still scary) where she would seem to look up […]

RUSP Presentation – Heidi 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 […]

RUSP Presentation – Laura My name is Laura Martin and I’m here with the Association for Creatine Deficiencies to tell you about my son Ryan.  Ryan will be 5 years […]

RUSP Presentation – Kim 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 […]