Tag Archives: Association for Creatine Deficiencies

A couple of weeks ago, we participated in something special – our Ben was a Patient Champion at the Nationwide Children’s Hospital Columbus Marathon and Half Marathon. It was the most amazing experience for all of us, including Ben, and one we’ll not soon forget. It made us feel seen, heard and celebrated. Again, amazing.

I know those who attended the conference in Texas this summer will all agree that is was fabulous. It was so great getting to meet each other in person. We have all connected through our blog stories and Facebook group, but to actually get to meet and let our kids meet and become friends was […]

Good day friends!  As I am traveling a bit with work right now, I have begun to think a few deep thoughts on what it is that I, as a dad, am striving for and what my goals are for my CTD boys.  Big questions I know, but the answers that I have come up […]

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 […]

I thought it would be beneficial to share a profile of our four, almost five, year old boy with Creatine Transporter Deficiency (CTD) named Ben, who presents without seizures. All our CTD kids are different, so this is by no means a profile of CTD, but rather, a profile of our kid with CTD. I […]

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!

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 […]

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 […]