Tag Archives: Guanidinoacetate Methyltransferase Deficiency

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 […]

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.

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 […]

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,