GAMT Specific

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

02Jun 2016

Mother of a Miracle

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 atonic with occasional tonic-clonic’s), she also has severe global developmental delay and ataxia.

Ella’s first years were tough, to say the least! Continue reading

17May 2016


Robinson FamilyWhen 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 occupies a permanent spot in my head and heart. Continue reading

08May 2016

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 stopped within 2 weeks. His EEG normalized.  His coordination improved.  It took awhile, but he’s talking.  Continue reading