Tag Archives: Guanidinoacetate Methyltransferase Deficiency

Today watching Levi peddle his bike as fast as his little legs would take him off the curb, as he demonstrated and showboated his new tricks on his bike, I couldn’t help but smile and celebrate with and for him. Prior to his diagnosis, there were so many “missed/delayed” milestones that it became frustrating at […]

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 […]

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. […]

My little guy is now 8 years old and was diagnosed with Creatine Transporter Deficiency (CTD) at 19 months of age – well before we were emotionally prepared to deal with the implications of such a diagnosis.  “Will he need extra help in math class or will he not be in a math class?” was […]

My husband likes tattoos.  Really likes them.  I do not have one spot of ink on my body.  An indecisive person like myself is not a good candidate for tattoos.  It’s a struggle for me to decide on where to eat out, so choosing an everlasting piece of art to adorn my body is not […]

When my son Spiro was first diagnosed with CTD, I thought it would mean better management, a quick fix, and a real turn around for my son’s symptoms. We were being seen by Canada’s leading children’s hospital. I remember that appointment with the neurologist who initially told me about Spiro’s CTD. I was alone. My […]