Creatine Transporter Deficiency (CTD)

“Grieving the Missed Milestones” – Regina

We’ve all been there. Those moments when we witness our kids- or grandkids- struggling to accomplish a simple task which others seem to be mastering. Those unique “am I making this up in my head” doubts that consume the mind while you wonder if you’re just being too vigilant (is there even such a thing). Or how about the feelings of despair as other families celebrate skills accomplished: cooing, the precious baby giggles, those first crawls, steps, words. The list goes on and on. Continue reading

“Our Diagnosis Journey” – Shelly

Some background to our story; I work in a well-baby nursery and Neonatal intensive care unit,  and most of my friends do as well… My entire pregnancy was documented and witnessed by these people, and they were so excited to be among the first to meet my daughter. I had the perfect pregnancy.  Minimal nausea, no swelling, optimal weight gain, and no blood sugar or high blood pressure issues.  So when at 37 weeks my doctor announced I was oddly measuring 2 weeks behind it did take us all off guard.  We were given a diagnosis of “small for gestational age” then sent home on bed rest for a week until I was too be induced. Once the day finally arrived everyone on the floor was excited!  Every single one of the nurses had patiently waited  9 months to meet my little girl.

Continue reading

“Expectations” – Nathan

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 with have really been a surprise, even to myself, and I hope that sharing my insights might help some others along the way. Continue reading

“Back to Blogging” – Janet

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 lift up all of you! Continue reading

“Because” – Amy

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 is an opportunity to reflect and be grateful, I still like to take the time to reflect on what life has offered us as the year comes to a close. Continue reading

“Got to Get You Into My Life” – Amy

After learning about our son’s Creatine Transporter Deficiency (CTD) this past January, we started down the path to begin supplementing with a set of amino acids. When you’re diagnosed with CTD and there is no treatment that reverses its symptoms, this is the most common treatment you can try, apart from therapies and other methods. Whether or not it makes any difference for a CTD child is inconsistent, and varies greatly depending on who you talk to and which scientific study you read. Regardless, for us, it was one of those things that we knew we’d rather try than miss out on a potential opportunity – and they have since become part of our everyday life. Continue reading

#SeasonofSmiles – Whitnie

As we approach the holiday season, it is customary to reflect and give thanks for the blessings we have. It’s also the season of giving and a time of year when many open their hearts and wallets to share in their blessings and give back to many meaningful charities. Continue reading

“Whoa” – Janet

Do you ever have those days or seasons where things are just ‘alot’? I know my family goes through those days. They are hard moments… they seem consecutively laid and they are heavy. Alot of people I know have kids. I don’t walk a day in their shoes, nor do they in mine. But over the years I have come across those folks who complain about… well… in my opinion what would not even qualify as a bad day in my house. Continue reading

“A Day in the Life” – Amy

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 hope this helps others searching for a diagnosis and provides awareness of what CTD means to a family like ours. Here is a day in the life of Ben. Continue reading

“Getting Better” – Amy

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 in January, so many of these emotions are quite raw. I thought perhaps others could relate to this daily struggle that I’m still trying to master – keeping the darkness at bay and clinging to the light. The following are some regular visitors in my daily assortment of emotional lows and highs. Continue reading