ACD Update

January 26, 2017

2016 Recap

Dear Friends,

In 2016, we continued our fundraising momentum, thanks to generous donors such as our community members, our families and friends, and corporations that all share our mission of one day having a cure for CCDS, and we are so thankful! With our fundraising events including our recent Holiday Heroes campaign, Shop for a Cause, and our first annual Walk for Strength, we raised over $57,000 this past fiscal year. These funds continue to allow us to operate and champion the cause of eliminating the challenges of CCDS through education, advocacy, and research. The ACD Board of Trustees meets weekly to review on-going strategic goals and their progress. Growth has always been a focus and will continue to be, and I know this past year will be one that we will always look back on with enormous pride.

My reflection this past year is centered around ACD’s exponential growth. I think about the number of families that found us after their child (or children) were diagnosed with a CCDS, or the fundraising that allowed the ACD to attend more conferences, including international ones in Canada and Europe, and new programs that we have developed that will help highlight the need for more education and research on Creatine Deficiencies. Some of my personal favorite statistics from this past year would be that 65% of our website views are from new visitors and that the annual rate of growth is currently at an incredible 200%. Also, in just two years we have had an 87.5% growth rate in newsletter subscribers. So what does this mean for us as a community, our children, and their future? We believe that this continues to prove that we are making a huge difference in the medical community by helping raise awareness in getting a faster diagnosis, and that researchers will be more and more interested in CCDS. This growth will undoubtedly help improve the quality of life for those living with a Creatine Deficiency, and hopefully, one day find a cure.

Our international efforts this past year proved to be an outstanding opportunity for us to connect with other CCDS patients, physicians and researchers from around the world. Our Scientific Medical Advisory Board also continues to expand as we add those that are considered experts in the field of Creatine Deficiencies. With all of this growth, we plan to expand our Board of Trustees, and General Council, with an emphasis on bringing together respected leaders in the business and the medical communities.

As the CCDS community comes together, we are committed to meeting their needs of bringing one voice together, because together we are building strength and changing lives.

Thank you for your continued support,

Kim Tuminello
President & Co-Founder

We are building strength, and changing lives.


  1. 2015 Recap

    January 28, 2016

    2015 Recap

    Thanks to our community, supporters and volunteers, the ACD had a great year in 2015. I am so amazed by the commitment that everyone has to help advance awareness and research for a cure for Cerebral Creatine Deficiency Syndromes (CCDS)!

    In 2015, we saw, for the first time, a deeper awareness of CCDS. Our attendance at the American College of Medical Genetics and Genomics (ACMG) and Child Neurology Society (CNS) annual conferences proved worthwhile as more and more attendees showed an understanding of GAMT, AGAT, and CTD and a commitment to screen for these disorders. This was a huge win and confirmation that our efforts are being noticed. The ACD plans to expand upon these education and awareness opportunities in 2016 by expanding our reach into the Autism and Developmental Pediatric audiences. It is our hope that all potential diagnosticians understand the signs/symptoms and proper screening for CCDS.

    Newborn screening has been a large focus, and will continue to be a priority in the coming year. The state of Utah was the first to pass newborn screening for GAMT in 2015 and we hope it will pave the way for other states to follow suit. A related development is the Mayo Clinic’s Newborn Bloodspot Project which is researching technology to screen for CTD using newborn blood spots. To help keep the community up to date on this, and other, non-drug research opportunities and clinical trials, we have expanded our website to provide up to date information on news and opportunities. To read about current projects and initiatives, visit our Non-Drug Research Opportunities page.

    In February Rare Disease Day will be a part of our campaign, in hopes of creating awareness of our cause and helping increase our fundraising success. GAMT, AGAT and CTD are considered rare and neglected diseases and we will unite on February 29th to bring attention to these often overlooked disorders. Coming together in support of rare disorders is important as institutions, like the FDA, are taking notice. In 2015 the FDA approved an unprecedented 21 orphan drugs for rare diseases, nearly half of all new drugs approved for the year. (Orphan drugs are drugs developed to treat rare disorders with small patient populations. These drugs would likely not be developed without the government’s help due to the high cost of development and the small market that is available to recover those costs.) This milestone is largely due to rare disorders coming together and raising a large voice. If you would like to show your support for Rare Disease Day and are interested in wearing an awareness ribbon please email us at and we will send one out to you. Wearing the ribbon is a great way to spark conversations about CCDS’s and build support and awareness in your local community!

    As our momentum continues to increase, our board of directors (100% volunteer) meet monthly to discuss upcoming events, new initiatives and fundraising opportunities. After more than 20 years of dedicated service to non-profits, including ACD, we are sad to see Linda Cooper step down from the board as she looks forward to taking some time off to enjoy her family and growing business. While Linda has been a valuable resource and will be greatly missed, we are happy to announce the addition of Laura Martin to the Board of Trustees. Laura comes to us with an immense amount of experience as a Genetic Counselor and is actively advocating for newborn screening in New York. Since joining the team she has also gotten ACD added to the top of the CCDS resource list on the GeneReview website. We are thrilled to have her on our team!

    As we plan for this next year, we hope that we can continue to receive your support. As parents, grandparents, aunts, uncles, cousins, friends and co-workers learn more about Creatine Deficiencies, I hope that we can inspire you to help in any way you can. From airline miles and hotel points for conference travel, to local fundraisers like garage sales, bake sales and car washes – no donation is too small. In the fall of 2015, we raised nearly $20,000 for CCDS education, advocacy and research. Donations from our online awareness merchandise, recurring donations from United Way, and company matches (from Enterprise Rent-A-Car, Modelology, Smith-Cooper International and Microsoft), Amazon Smile, Lobster Fest, and Holiday Heroes contributed to us surpassing our 2015 fundraising goals. This funding will allow us to continue to operate over the next year and champion for our shared mission to eliminate the challenges of CCDS through education, advocacy and research. We look forward to 2016 and continuing the journey, with your help.