Tag Archives: slc6A8

I love reading special needs blogs. They have lifted me up and carried me through some really tough years with my son. Ironically, it’s been awhile since I’ve written for this blog. I have tons of content up in my brain…. but last year I struggled to put those ideas into blog entries to help […]

At the end of the year, I like to reflect back so I can look forward and plan for the new year. 2017 has been a challenging, yet rewarding year for our family. Like any other family, life moves at warp speed sometimes, but things tend to slow down near the holidays. While every day […]

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 […]

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 […]

There are certain days that have a significance in all of our lives. Something that happened on a day that changed the path we took, or influenced our perspective, our choices, or future. For me, that day is today. For the past seven years January 13th has been a day of reflection. This is the […]