Tag Archives: creatine deficiency syndrome

I’m Sarah and my daughter Ella is now 6 and a half. She was diagnosed with GAMT at just over 3 years old (February 2013). Before diagnosis Ella was initially diagnosed with mitochondrial disease based on the results of an MRI in 2012. She suffered with up to 200 seizures a day (mostly myoclonic and […]

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! 

When it comes to high points in my life, I have many—my wedding day, each of the births of my three children.  It’s difficult to choose the highest point.  But when it comes to low points, there is just one.  I’m thankful to have more highs than lows, but that low point in my life […]

Hi. My name is Heidi Wallis. I am the mother of four children- two with GAMT and two without. There are a few things I want to be sure you understand about children with GAMT. First is that they do not look different. They are not instantly recognized at birth as having GAMT. I tell […]

My name is Laura Martin and I’m here with the Association for Creatine Deficiencies to tell you about my son Ryan.  Ryan will be 5 years old in July.  He was diagnosed with GAMT deficiency almost exactly 2 years ago, right before his 3rd birthday, on a genetic epilepsy panel.  Ryan started treatment, and his seizures […]

Hello, my name is Kim Tuminello and I am a mother of 2 children with GAMT. I’m also the President for the Association for Creatine Deficiencies and I’m here today to represent my family, and our entire Creatine Deficiency Community. I’m hoping that if you didn’t know about this particular genetic disorder in the past,

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