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
Early treatment of GAMT Deficiency is effective and affordable
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.
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
“A Mother’s Intuition and How One Family Never Gave Up”
Parents have a sixth sense about their children. Call it a hunch, a gut feeling or a Mother’s/Father’s intuition, but it is real. I think as parents we feel like we have a responsibility to society to be logical and methodical. We don’t like making assumptions based on a mere feeling, but instead want evidence to show proof and validation. Afterall, that’s what we’ve been taught. It is a terrifying thing to come to the realization that there might be something wrong with your child, but it’s even worse not being able to prove it. Continue reading
“There have been angels in my life….” This was written to me on a thank you note by the wife of a friend who passed away suddenly. For some reason, that quote always stuck with me. It meant even more to me when Will was little and his babysitter took me aside one day to tell me “something wasn’t right”. That was angel number 2. She was 73 at the time and had kept practically every child in our hometown. Everyone knew her and everyone trusted her. I was no exception. We trotted straight to the doctor, then to another doctor, then to another. Cerebral Palsy was the diagnosis. “Put him in physical therapy, occupational therapy and speech therapy,” the doctor said. Have a nice life Parker family. He didn’t say it, but I felt it. He was NOT angel number 3, and Will did NOT have CP. We switched doctors and over the next few years both she and I decided he had Will Parker Syndrome. Why not name it after him? She had no idea what was wrong. She became angel number 3. Continue reading
When Trenton was born in New York, he weighed 7 lbs 2 ounces. Before we left the hospital, he dropped to 6lbs 12 ounces, by our first appointment 6lbs 9 ounces and stayed there. He was bottle fed and projectile vomited often. I took him to the pediatrician and they just kept informing me that baby spit up is normal. No matter how much I argued with them it was not just spit up, they didn’t begin to do anything until he finally projectile vomited on them. We were in and out of the doctors at least 2 times a week for approximately seven months. They just kept switching his formula. He got a GI scan and that came back normal. No one knew what to do but he was finally gaining weight so they just dropped it. Continue reading
Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.