Tag Archives: ACHDNC

The Association for Creatine Deficiencies (ACD) welcomes Dr. Ton DeGrauw as part of the Scientific Medical Advisory Board (SMAB)! Dr. DeGrauw joins Dr. Longo, Dr. Andrews, Dr, Barshop, Dr. Chan, Dr. Morita, Dr. Salomons, Dr. Schulze, Dr. Skelton, Dr. Stockler, and Dr. Young as advocates for Cerebral Creatine Deficiency Syndromes (CCDS).

GAMT is really, really, rare. We all know that! I am sure quite a few of us have been told to buy a lottery ticket a time or two. We have! With the chances and diagnosed cases and all, but can lightning strike twice? We may be going for the lotto next!

Ben’s recent Creatine Transporter Deficiency (CTD) diagnosis has hit me hard emotionally, so I thought that an honest account of these emotions could be cathartic. I have gone from feeling sorry for myself, to feeling numb, to feeling a bunch of different emotions – some rational and others not so much. Ben was just diagnosed […]

I’ve made no secret that our family life is somewhat different from the norm. Our home life is different as we live with 2 of our 3 children’s GAMT deficiency and all the disability that comes with it. Everyone knows it has consumed, shaped, and defined Holly & Isaac’s lives and our lives as parents.

We recently returned from a very fun and needed vacation to Disneyland! It was magical with a 5 and 1 year old. We packed in all that we could and enjoyed every moment of it, but the day after we got home, I still managed hearing the question from Levi asking if we could make […]

It wasn’t until this school year, Benny’s 7th grade year, that we realized he didn’t have the phrase “I love you” on his communication device. Benny is totally nonverbal and relies on assistive technology to communicate. He does have one approximation of “yeah” in his verbal catalog, but other than that, he uses his voice […]

Sometimes it feels like everything just piles up – from the challenges of being diagnosed, seizures, hospital stays, to the complications we encounter every day.  

GAMT is so rare, just getting diagnosed seems to be quite an ordeal. I like hearing everyone else’s journey, and having this connection. Here is our story! Before Levi was born, I had a nervous feeling; anxiety that something was “off” but at each ultrasound things looked great and he was born a healthy baby […]

My daughter Holly (9) & son Isaac (4) have recently been diagnosed with Guanidinoacetate Methyltransferase Deficiency (GAMT). What a label, hey? Certainly sounds more impressive than Global Developmental Delay, Autism, or just plain old Epilepsy that we were ‘gifted’ with before.

Well, it’s here friends, February 14th , and according to the automatic reminder on my phone, that means it is time to stop at the store and give Hallmark their due for the year.  Now I am not saying that I am not romantic, but I am a guy, so romantic is a relative term. […]