Tag Archives: CCDS

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 […]

Greetings again friends! While I had a post all written about expectations for this week, I just felt like this topic weighed heavier on my heart, so away we go!

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 for 2-3 seconds and come back to her normal self quickly. These turned out to be a blessing because they got us into a pediatric neurologist who finally put a […]