Tag Archives: Creatine Transporter Deficiency

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!

They say it takes a village to raise a child. I believe that to be true. If left up to me alone, I’m not sure I’d survive the emotionally taxing roller coaster ride of parenting a special needs child. Reid was diagnosed with x-linked Creatine Transporter Deficiency at age 2-½ after searching rigorously for answers to his unexplained […]

Hello again friends, thanks for taking the time to once again visit with our interesting family adventures. The past several weeks have been good for us, but it has definitely been a time of transition. As spring ebbs into summer our eighteen month old and two-and-a-half-year-old have found themselves the victims of long-running springtime colds. While the […]

Hi, my name is Jessica and my son William, who just turned 5, has Creatine Transporter Deficiency (CTD). William was born in April 2011 and as first time parents, my husband Wayne and I were very excited! 

Welcome to what I fully expect to be a long list of random ramblings, some of which will hopefully help someone along the way. Let’s start with the obvious question of, what’s with the title of your blog? Well, that is indeed a good question! Unfortunately, it is going to take a minute to fully

“A Mother’s Intuition and How One Family Never Gave Up” Parents have a sixth sense about their children. Call it a hunch, a gut feeling or a Mother’s/Father’s intuition, but it is real. I think as parents we feel like we have a responsibility to society to be logical and methodical. We don’t like making […]

When Trenton was born in New York, he weighed 7 lbs 2 ounces. Before we left the hospital, he dropped to 6lbs 12 ounces, by our first appointment 6lbs 9 ounces and stayed there. He was bottle fed and projectile vomited often. I took him to the pediatrician and they just kept informing me that […]