State of the Union

Since 2012, the Association for Creatine Deficiencies (ACD) has been functioning as a non-profit, brought together by the common goal of finding new treatments and a cure for all Creatine Deficiency Syndromes (CDS). We realized that if the three known Creatine Deficiency Syndromes; CTD, GAMT and AGAT came together, it would bring a greater degree of recognition to the medical community and general public, more effectively and efficiently.

These past few years have been filled with establishing a solid base for the ACD. This entailed, to name a few, selecting an Executive Board, Board Members, a Scientific Board, Incorporating, filing for a non-profit, by-laws, logos, web designers, fundraisers, patient registries, attending medical conferences, membership with NORD and partnering with Global Genes, and in 2013 we were officially approved for our tax exempt 501(c)(3) status. It is with great consideration and dedication, that have we have met these milestones.

There are many questions about the future treatments of CDS. As a patient organization, we strive to stay abreast of the latest developments that impact the CDS community. We work to provide public updates, to the best of our ability. We have been fortunate enough to engage with Lumos Pharma, a biotechnology company, who together with the National Institute of Health’s Therapeutics for Rare and Neglected Diseases (NIH TRND) program, are collaborating on the clinical study and development of a potential treatment for Creatine Transport Deficiency. We are also in contact with the NIH regarding the clinical study of the Natural History of CTD. We are excited about the relationship of Lumos and the NIH for Creatine Transport Deficiency. We are also excited to tell the CDS community that there are others studying Creatine Deficiency Syndromes, from around the world, that have reached out to us.

They are seeking grant money to help fund their CDS projects. We are in hopes that we can provide grant assistance in the near future.

For now, we hope that you are asking yourselves, how can I help? First and most importantly, we hope that you will take the opportunity to sign the Patient Registry that is available on our website. This one action alone will help ensure that you can be informed of any new studies or possible treatments in the future. It is completely private, and you have options within the registry.

Fundraising will be a big initiative for us in 2015. In just the next few weeks, you will see us launch our first fundraising campaign. These funds will go directly to the efforts of CDS education, raising awareness, advocating for newborn screening, and funding medical research to improve treatments and help find a cure. To support fundraising efforts, we created a separate fundraising brochure and campaign letter that will be available to you on our website in various distribution formats. We are also developing an impactful fundraising video that you will be able to share, and we hope that you do! We hope these tools will help bring our CDS community together to help fight for our loved ones.

Aside from direct fundraising, we are a participant of AmazonSmile. When you shop AmazonSmile a portion of the sale will go directly to the ACD. If you use this site or know other people that do, then this would be the perfect way to show your support. Also, the ACD is always looking for volunteers. Are you a lawyer, an accountant, a web designer, or maybe you would like to help on a committee? We would love to hear from you!

As this holiday season is officially underway, I would like to personally take this moment to tell you how honored I am to serve as President, and to be a part of this incredibly hard working Association. Looking back on this year, I see the commitment and dedication that everyone has given and it has been a true blessing to the CDS community. It is without a doubt going to make a significant difference for not only our children today, but for future generations to come. I do believe that “together we are strong!”

Sincerely,

Kim Tuminello

President, Trustee

Association for Creatine Deficiencies