I went to college with the intention of becoming a scientist. With that in mind, I studied biology and chemistry. While I never ended up becoming the scientist I planned, the knowledge has always proven useful to me. Never more so than when my son Xavier was diagnosed with CTD.
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.
A couple of months ago, I was asked to write a blog about having a brother with CTD. I promptly dragged my feet in doing it. What was I supposed to write about? That it sucks? That’s not true. That it’s great? That’s not true either. With my first draft, I aimed to get to […]
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!
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