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! Continue reading
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 occupies a permanent spot in my head and heart. Continue reading
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 you this, because the burden of diagnosing these children should not be on their primary care physician. Also, not every GAMT child develops symptoms Continue reading
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
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.
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.