Creatine Transporter Deficiency (CTD)

“Drug Development- A Parent Perspective” – Erin

When the news came out about Lumos stopping the development of the drug they were working on to treat Creatine Transporter Deficiency (CTD), as a parent, it was a very emotional day and made me realize how important the drug development process is to me, to our family, and to our community. I recalled seeing a presentation at the inaugural ACD CCDS Scientific & Patient Symposium in 2018 regarding the drug development process that was helpful and eye-opening for me as a relative newbie to the world of pharmaceutical drug development.

I was so happy and relieved to find out that the Vigilan study would continue to move forward and that Ultragenyx would take over the role as sponsor of this study. Most recently, Ultragenyx shared an update with our CCDS community regarding their role in the Vigilan study and their CTD clinical development program UX068. This was yet another reminder about all that I have yet to learn about this process.

For my husband and I, participating in the Vigilan study and being involved with the Association for Creatine Deficiencies as volunteers is extremely important to us, and we are so grateful to have opportunities to advocate for our son (Cadman, who is 4 years old and was diagnosed with CTD just before his second birthday), and play a role in the eventual development of a successful treatment for CTD. We have participated in the Ultragenyx online survey on CTD, and it was pretty quick and easy, and great to know we were helping contribute to the knowledge base of the team at Ultragenyx who are working hard to develop a CTD treatment that will hopefully make a meaningful difference in the lives of patients.

It can be overwhelming to try to understand the timeline and terminology involved in clinical drug development, as well as making sense of what all of it means for our son. In this presentation, Dr. Dave Weiner from Lumos does an excellent job of explaining the process. It is definitely worth the time to watch this if you have any questions about the drug development topic.

**Thanks to Erin Coller, ACD Ambassador, for writing this blog post.**

“WE’RE IN THIS TOGETHER, Like It or Not” – Nancy

I know I’m one of the lucky ones. We still have our son. There was a moment in time where I seriously considered giving up custody of my precious baby boy, my third child. Sam is 21. He has CTD and therefore, Autism, Epilepsy, Sensory Processing Disorder, food sensitivities, ah… you know the list. Continue reading

“Super Bowl Sunday 2017—Diagnosis Day” – Erin

Super Bowl Sunday marks two years since we officially received Cadman’s diagnosis. It was so strange answering an unexpected phone call from the neurologist while watching the Super Bowl, and immediately concerning. Just a couple of weeks prior, we also found out that I was pregnant with our second child, Emma, who is now 16 months old and the most delightful addition to our family. My husband Dan and I had been seeking answers for some unexplained concerning issues going on with Cadman for almost a year, and finally, the answer was found through the Whole Exome genetic test which the neurologist reluctantly ordered. The test results came in that Sunday a few months after Dan, Cadman and I did the blood work at Rady Children’s Hospital in San Diego, and the neurologist wasted no time in reaching out to inform us of the very unexpected results. It was an expensive test and one that apparently doctors don’t usually order until lots and lots of other tests have been completed and provided no answers. Continue reading

“The Life of Alfred” – Nathan

Every kid dreams of growing up to be a superhero. I can remember running through the house pretending to be everyone from the Incredible Hulk to Superman, and who didn’t dream of shooting webs like Spiderman? Well, fast-forward a good number of years and unfortunately, I am still not a superhero. I don’t think any child ever has a single moment in which they realize that they probably won’t grow up to be a superhero, rather it is a slow transition from what could be to what really is. Right now, you are probably hoping that I have some kind of point I am trying to make with all of this, and I promise I do, just bear with me. Continue reading

“Christmastime” – Lacy

I love this time of year! I love snuggling with my kids beside the soft glow of the Christmas tree and pretty decorations as they fall asleep. This is a magical time of year to see their faces light up as we drive through town or when they see there is a present under the tree with their name on it. The Christmas season is a great time to reflect on everything that has happened throughout the year. We have had some great times as a family. Continue reading

“#MyGivingStory” – Chuck

This story was shared with #MyGivingStory in connection with the Giving Tuesday initiative. #MyGivingStory shares the stories of everyday heroes giving their time and talents to the charities they love. Continue reading

“Patient Champion” – Amy

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. Continue reading

“Family Vacation” – Shelly

We just had our first big family vacation. Overall it really was great, we had good strong family moments, Lilah got to chase seagulls, Tyler got to ride in a helicopter, and I got to swim in a tank with dolphins! We had some magnificent food and a good recharge from work and social life. You know what we didn’t get a break from? Our CTD world.  Continue reading

“Life With CTD” – Chelsi

Hello, my name is Chelsi and I have CTD. 23 years have come and gone before I even knew about this condition. If it wasn’t for my son I would have gone my whole life without any knowledge. When I first got diagnosed I was scared. What does this all mean? How are people going to react? Am I going to be treated differently? Life wasn’t always easy for me growing up. Making friends was a struggle. Communicating appropriately with someone was definitely a no go for me. Continue reading

“The Feeding Tube Post” – Nathan

Good day friends! For this blog, I thought I would write about something I have been asked about several times, the feeding tube. It goes by many names, ranging from G-tube to Peg or Mic-key, but they all do pretty much the same thing, and in my opinion, that thing is to provide an amazing way to deliver nourishment to my boys. Now before I go further, I have to give the request warning that I am in no way, shape, or form a medical professional. I do not intend for this blog to convey medical advice or a course of treatment. Rather, I would like to tell everyone how we wound up being a “tubie” family, what benefits and challenges we have faced, and finally, I will add a little advice that I think would be helpful for everyone to know. Continue reading