Creatine Community Blog

13Sep 2016

max-010-1-1

Meet Max. Six years ago (almost seven), my life changed when he was born. He was my first child and the most amazing gift to me and my husband. When I was pregnant, everything seemed pretty normal. Clinically, the only thing that was wrong with my pregnancy was I had a single umbilical artery. It was not a major issue, except I had to have a few extra ultrasounds to ensure that the baby was developing and growing normally. In retrospect, I wonder if this was a symptom of the diagnosis we would receive a year and a half later.
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09Sep 2016

spiro1

My 7 year old son has CTD and Autism. He was diagnosed with CTD January 2012 and then Autism, September that same year. At 1 year of age his symptoms began to be quite evident. By 2 years old, they were in full swing. At 3 years old, when he received the Autism diagnosis, our lives had been literally turned upside down – shaken – and the contents of our ‘lives’ strewn about in our home, with only my husband and I to pick up the pieces and “carry on” with things. Continue reading

07Sep 2016

Family Picture

Well friends, the end of summer is again upon us.  Children are heading back to school and hopefully, soon the cool air of fall will again give us respite from the stifling summer heat. In our family, three of our boys are returning to their studies after a few short months of summer vacation.  Continue reading

28Aug 2016

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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 and our relationship- how we manage day to day activities. Continue reading

19Aug 2016

Sean - Version 2 (1)

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.   Continue reading

09Aug 2016

Beth1a

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.

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02Aug 2016

Chad1

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 the real meat of what it was like, but it spiraled into such a David Lynchian hodgepodge of existentialism and frustration that there’s no way I could possibly show it to anyone let alone a blog on a charity website. Continue reading

29Jul 2016

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 meets their requirements for inclusion on RUSP before the disorder is moved forward for a scientific evidence review. The Evidence Review Board has no more than six months to approve or reject a nominated disorder. If approved by the Evidence Review Board, the disorder moves forward to the Secretary of Health and Human Services for final approval and recommendation to all states. Continue reading

 

Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.