ACD

07Jun 2016

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Hello again friends, thanks for taking the time to once again visit with our interesting family adventures. The past several weeks have been good for us, but it has definitely been a time of transition. As spring ebbs into summer our eighteen month old and two-and-a-half-year-old have found themselves the victims of long-running springtime colds. While the colds did bring with them a double trip to the emergency room for dangerous fevers, luckily the boys didn’t get admitted and after a few days of watching closely for seizures, everything seems to have calmed down. In addition to the usual changing of seasons and all the fun that goes with the warmer temperatures, we also feel blessed to have transitioned to some new in-home care providers that seem to be improving Eli’s care by leaps and bounds. 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

24May 2016

Family photo March 2016

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

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

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

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

Continue reading

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

04Apr 2016


“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