Tag Archives: developmental delay

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

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 edges. It’s more of a rant. A bratty, selfish tirade. I hate the medication part of GAMT.

In May, the ACD met with the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). GAMT was nominated for inclusion on the federal government’s Recommended Uniform Screening Panel (RUSP) by Dr. Nicola Longo, Chief Division of Medical Genetics, University of Utah. The role of the ACHDNC is to determine if a nominated disorder […]

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 whole family would be changed dramatically by this event. The birth of any child is life changing. But the birth of a child with special needs and medical requirements, has […]