CCDS Family Stories

11Nov 2019

When I was faced with the CTD diagnosis of my son, who is now 10, I felt a huge, monstrous, feeling of overwhelming and it never went away. None of this is his fault, but the responsibility, the volume of things that needed to be taught, the learning, the management of appointments, the therapy, medication, and paperwork was a lot to handle and it ultimately fell on my lap as his primary caregiver. Continue reading

31Oct 2019

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.**

24Sep 2019

The Association for Creatine Deficiencies (ACD) recently interviewed Christina, a 17-year-old senior in high school, who was diagnosed with L-Arginine: Glycine Amidinotransferase (AGAT) deficiency as an infant to share her story in regards to her diagnosis, why advocacy is important to her, what her hopes are for the future, and more, in honor of Newborn Screening Awareness Month. Continue reading

21Aug 2019

A phrase I hear quite often is, “I don’t know how you do it.” I don’t always know the correct response, so I usually just smile and take it as the compliment I think they intend it to be. I am not sure what they are seeing from their perspective. Are they seeing Jacob throwing himself to the ground in a temper tantrum? Are they seeing him frustrated when he can’t communicate his needs? Are they seeing me as a frustrated mom trying to do my best with the situation? Are they seeing him as a happy child? I see all of these things.  Continue reading

07Aug 2019

My fourth Ironman is in the books. Lake Placid, New York is a beautiful place and the trip was amazing. Beth and I chose this location because not only could I participate in the Ironman event, but we were celebrating our 20th wedding anniversary and the venue did not disappoint! We won’t soon forget our time there. Continue reading

15Jul 2019

Hello again, friends! I know it has been a while since I have updated everyone on what’s going on in our daily lives. Well, I will be the first to say, things have been a bit hectic this summer, but the craziness is welcome and we love the way that our lives are evolving! Continue reading

07Jul 2019

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

09May 2019

When your child is different, there are a lot of worries. We worry about their health; their education; and their safety. But we also worry whether they’ll have something that most of us take for granted. A friend. A real, honest-to-goodness friend. Someone they can relate to, who likes to be in their company, and who will be there for them in good times and bad. Continue reading

26Mar 2019

Standing in front of my kitchen sink in the cold, blue, January dawn, I run the warm water to wipe off my son’s face before he heads off to high school. The washcloth steams visibly in the frigid morning air as I carefully wipe off Benny’s face, getting off any traces of breakfast or sleepy eyes. He turns 15 in a week. I realize that I have to reach up to wipe off his face. He’s now taller than I am. I’m struck by the poignancy of this moment. Continue reading

05Mar 2019

Over-protective. Controlling. Helicopter Mom. Whatever you call it, that’s who I am. I’ve been this way since my first child was born in 1991. If I could have wrapped all three of my children in bubble wrap and locked them in the basement until they were 30, I would have. And yet, I haven’t been able to protect my most vulnerable child from exploitation and abuse. Continue reading