Creatine Community Blog

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

08May 2016

Early treatment of GAMT Deficiency is effective and affordable

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Benny was undiagnosed until 5 years of age. He attends a special education classroom where he requires 1:1 care. He battles seizures, Global Developmental Delays, is nonverbal, requires a communication device, and will need life-long care.

Late Diagnosis

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Paige has been treated since birth. She is a 6 year old in the 1st grade, and has never required therapies. She has never needed interventions of any kind and attends a typical classroom. She has never had a seizure.

Newborn Diagnosis

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08May 2016

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, Continue reading

26Apr 2016

Uncle & Boys

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 Continue reading