#SeasonofSmiles – Whitnie

15Aug 2023

Q&A with Dr. Mark Levin, Pediatric Cardiologist: Prolonged QTc, Long QT Syndrome, and CCDS

Dr. Mark Levin is a board certified pediatric cardiologist at the National Institutes of Health (NIH) and the National Heart, Lung & Blood Institute (NHLBI), and has gained experience working with Creatine Transporter Deficiency (CTD) patients through his work on the Vigilan Observational Study. Dr. Levin presented at the 2021 CCDS Virtual Conference on “Cardiac Abnormalities in Patients and Animal Models of Creatine Transporter Deficiency” and a video of his presentation is available on the ACD YouTube channel.

Continue reading

27May 2023

“Giant Boxes for Giant Walks” – Faith, ACD Programs Coordinator

I wish I had taken a photo of the boxes that took over my home back in the summer of 2021. At the time I was living in a tiny apartment in downtown Salt Lake City. It was my first Walk for Strength with ACD. How many boxes does it take to transport 700 shirts? I remember asking myself. Surely, it won’t be that big of a deal. Sweet, innocent Faith. Continue reading

24Mar 2023

Reflections on the CCDS EL-PFDD

By Celeste Graham, ACD Director of Education

I had always thought of the Food and Drug Administration (FDA) as a very high-level governmental agency that oversees all things safety and effectiveness, related to food, beverages, supplements, and medications… so high-level and inaccessible that they really didn’t have any interactions with the general public. Continue reading

13Feb 2023

ACD Fellowship Projects Make Progress in 2022

The Association for Creatine Deficiencies (ACD) is playing an active role in funding research to find a cure and treatment for Cerebral Creatine Deficiency Syndromes (CCDS), and a cornerstone of this effort is the ACD Fellowship program. Continue reading

07Dec 2022

“Our Experience of CTD” – Kayla

We’ve shared that Creatine Transporter Deficiency (CTD) can cause seizures, speech, intellectual, and motor delays, ADHD, and autism in people, but it can vary greatly from person to person. So what does CTD look like for our son, Crosby? Continue reading

05Nov 2022

“Awareness” – Lacy

I find myself thinking a lot about awareness. It has been a buzzword in our lives for the past five years since we found out that Jacob has Creatine Transporter Deficiency. It is a diagnosis we never thought we would get mainly because we had never even heard of it. Continue reading

20Nov 2017

#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.

For me, I enjoy the opportunity to live on both sides of this giving equation. I am blessed. I have a loving husband and three beautiful children. Our life is wonderful. We play sports, go to school and work, and enjoy everything that we can as a family of five. We raise our children to be kind and to give.

Our middle child suffers from an incurable rare, genetic disorder called X-linked Creatine Transporter Deficiency (CTD). His is one of three cerebral creatine deficiency syndromes and the reason I also find myself devoted to a nonprofit that is on the receiving end of this season of giving- receiving donations from AmazonSmile.

I joined The Association for Creatine Deficiencies a few years back in an attempt to help my son by helping others. My son’s disorder doesn’t have a treatment, but I rationalize my dedication to the cause in hopes that, in some way, I might make a difference, if not for him directly, for the others who will inevitably follow.

This journey that started out as self-preservation has evolved into a passion and a purpose. Today, the ACD is a thriving organization driven by mothers, just like me, who can’t give up hope that one day they will make a difference for their children and so many more.

AmazonSmile has touched our organization, not only financially, but spiritually. AmazonSmile is a way for our community, family, and friends to share in our purpose and to contribute to our cause in an effortless, yet significant, way.

A simple purchase that equates to a larger financial impact goes a long way toward helping the ACD sustain our mission to providing education, research opportunities, and support for patients diagnosed with GAMT, AGAT, and CTD. Participants in the

AmazonSmile program can share in our pride and accomplishments knowing that they too, can make a difference with a simple click on smile.amazon.com/ch/46-2133007….and, knowing you are making a difference makes everyone smile. Thank you Amazon! #seasonofsmiles #acd #ctd

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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.