“#MyGivingStory” – Jerry

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

18Nov 2017

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. 

I just finished my second Ironman triathlon. It’s a lot. A lot of training. A lot of swimming. A lot of bike riding. A lot of running. And oh yeah, a lot of being distracted from real life because when you’re not swimming or biking or running, you’re thinking about swimming or biking or running. Also, it costs a lot of money. And, last, but not least, it requires a lot of support (and understanding) from your family to allow you to go through the process. It’s a very selfish act, and sometimes I cannot believe they let me get away with it. I say thank you A LOT.

So, when I was thinking about doing this very selfish thing for a second time, I thought about how I could possibly make myself feel better about being so selfish. It didn’t take a lot of thinking. The solution seemed pretty simple. I would raise money for The Association for Creatine Deficiencies.

I don’t put myself out there that often, and I strongly dislike asking for help. But I wanted to get real serious about this. The wife and I put together a Crowdrise donations page where we told the story of our two with GAMT, and what it meant to us to raise money for ACD. It’s so personal, and I was a little sketchy about being so open. But this required opening up, and I think it helped me to have something to hold onto during my training as well. It was now bigger than just me, and I prefer it that way.

I launched my official campaign on Rare Disease Day, and I called it “Suffering for a Cause.” My tagline was: “If you give, I’ll suffer for it.” I shared our story and facts about CCDS with family, friends, and coworkers. The response overwhelmed me. Before I had even begun my training plan, I already had contributions starting to add up. It was so humbling, and motivating, and inspiring. I couldn’t wait to get going.

As I progressed through my training, the cause pushed me forward through all the suffering and the selfishness. I competed in a few ramp-up events, and gave some updates on the website, and each time I did, the renewed support pushed me forward even more. There was no way I would let anyone down.

When I crossed the finish line this time, it was a very different feeling from the first time. I felt the same relief of being done, the same blend of fatigue and happiness. But this time, the sense of accomplishment was so much stronger. I gave my wife a hug and cried, thinking of how lucky I am to have her support, the support of our family, and friends, and coworkers, and even a few folks I don’t even know, who gave over $8000. A lot of money, a lot of joy, a lot humbling. I say thank you A LOT.

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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.