ACD

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

26Jul 2016

Spiro1

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 certainly been something I’ve taken a long time to digest so to speak. Continue reading

21Jul 2016

Paraglide-(1-of-1)-9

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! Continue reading

12Jul 2016

2016-06-22-10.52.45

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 name to her half decade struggle: GAMT deficiency. Continue reading

28Jun 2016

Robinsons3

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. Continue reading

21Jun 2016
IMG_5084

Reid (6), Rhett (8), and Cora (4)

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 symptoms. Continue reading