“A Boy and His Dog” -Laura

05Feb 2020

I wanted to talk a bit about something that my son said to me last year. This surely stuck out in my mind as important to share here. I’m sure a large number of readers are parents or caregivers of a loved one with a creatine deficiency. Some parents may have more than one child. And given that every family dynamic is different and each affected child is unique, this is just our own family’s experience that led to this topic. Continue reading

20Jan 2020

Pictured: Dr. Sonja Sucic from the Medical University of Vienna presenting on pharmacochaperoning at the Creatine Deficiency Workshop in Rotterdam in September 2019

Being a CCDS/CTD mom, I understand that it can be very easy to put a huge amount of hope in the idea of prospective treatments. The exciting news is that it’s not just a cliché to say that we can each make a difference. Our individual participation in the research process is vital and necessary to help researchers in the quest to find a cure for CTD. There are researchers around the world working on innovative new ideas for therapies that could really work to help our loved ones. Providing access to patient data is in our hands as parents and caregivers, and it is not an understatement to say that if we don’t do our job, the researchers can’t do their jobs. Continue reading

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

13Sep 2019

I had the recent pleasure of attending an event hosted by the Oklahoma Rare Action Network (RAN) Ambassadors, Tamra and Jade. Together with representatives from the National Organization for Rare Disorders (NORD), Michelle and Rose, they offered an opportunity to engage with staff from Congressman Markwayne Mullins office. Though the Congressman himself was unable to attend, the opportunity to take advantage of his staff member, Josh, being present was very productive in the effort to spread awareness of topics that impact the rare disease community. 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

24Oct 2017

Trevor and I both grew up with dogs as family pets. We knew we would one day get a family dog, too. We wanted to get one soon after marriage, but with crazy college life and living in a rental that did not allow pets, it was easy to put off. Levi came into our lives while we were looking for a permanent home, and when he was 6 weeks old we purchased our first house and made some much-needed renovations while living in it at the same time. Did I mention we had a 6 week old?! Ugh! What were we thinking with the timing of all of this?! Ha!
We finally decided we would get a dog when Levi and any future kids were old enough to ask for one, really want one, and help take care of it.
Fast forward fifteen months when Levi started having seizures. We were doing EVERYTHING in our power to get them under control, or to stop them altogether, but it just wasn’t happening. One day, my Dad suggested Levi needed a dog. His exact words included “a therapy dog”. That caught my attention! I know dogs can be healing, and comforting. I looked into it and WOAH!! Pricey is an understatement! So, we kept it in mind – Levi needs a dog. We continued the treacherous path until diagnosis, and with that came a breath of air for all of us. We were then researching side effects of going without creatine, and permanent struggles that may come with GAMT. With it being so rare, there weren’t any definite answers as we came to find out each case and child with GAMT is unique with their conditions. So, what was left to do? Get Levi a dog! When he was 18 months old we found some adorable Labradoodles for sale near our home. They weren’t ready to leave their mom yet, so we continually visited and played with the puppies to see which one picked Levi and vice-versa. These dogs obviously weren’t trained therapy dogs, but our hope was that it would be just the right thing for our little guy. The cutest pup would always go to Levi. He would chase him and chew on his pant legs. It was amazing that time and time again this same puppy would go to him and love on him.
Although Levi didn’t verbally ask for a dog, and he definitely couldn’t help care for him, it was the BEST thing we did for him after his strenuous journey to a GAMT diagnosis.
Meet Stanley!
They continue to be the best of pals, Levi and Stanley. It is great they have also allowed little brother Sawyer in on the bond. We will forever be grateful for the gentle nudge from a grandparent who knew what was best, and for the amazing family dog we now have!

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Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.