Tag Archives: Special Needs

So this is my second post about Ella, who is 7 in a few weeks’ time! It’s scary how quickly they grow. In my last post I tried to keep to the point and just give you Ella’s background and how far she’s come. I thought this time I would say a bit about us […]

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!

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 […]

With the GAMT diagnosis of two of our children, our unaffected middle child immediately became the odd man out. Even my husband and I, given our genetic contribution to the disorder, were involved somehow. But Mae, our middle child, has no ties to the disorder as of now.

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 […]