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July, 2016

Newborn Screening Update -RUSP

In May, the ACD met with the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). GAMT was nominated for inclusion on the federal government’s Recommended Uniform Screening Panel (RUSP) by Dr. Nicola Longo, Chief Division of Medical Genetics in Utah. The role of the Evidence Review Board is to determine if a nominated disorder meets their requirements for inclusion on RUSP before the disorder is moved forward for a scientific evidence review. The Evidence Review Board has no more than six months to approve or reject a nominated disorder. If approved by the evidence review team, the disorder moves forward to the Secretary of Health and Human Services for final approval and recommendation to all states. Click here to read more >>

Click here to view the full meeting with the ACHDNC >>

ACD RUSP presentations and Cost Analysis can also be found on our blog >>

Read more about Utah’s pilot study >>

See newborn screenings by state >>

Newborn Screening in California-Legislative Bill Passed


In June, ACD President Kim Tuminello, along with the EveryLife Foundation, flew to Sacramento, California to speak at the Capitol regarding newborn screening in California.  Their efforts were in support of a legislative bill for California to adopt into the state newborn screening, any disease that is detectable in a newborn blood spot that is recommended by RUSP.

Learn more here >>

2016 DIA Annual Meeting

In June, the ACD was honored to attend the DIA annual meeting in Philadelphia as part of their Patient Advocate Fellowship program. The purpose of the DIA (Develop, Innovate, Advance) is to unite researchers, physicians, pharmaceutical companies, lawmakers, and patient advocates in the common goal of successful drug development. Emphasis was placed on the importance of the patient voice in the decisions made during drug development and clinical trials, as well as the benefits of patient advocacy groups uniting patients to be heard as one strong voice. This motivational conference provided many insights into how we can best advocate on behalf of the CCDS community worldwide, to bring about big changes for our rare disorders.

Learn more about DIA here >>

SPECIAL EVENTS CALENDAR

September 16-19, 2016 is the Society for Developmental & Behavioral Pediatrics Conference scheduled in Savannah, Georgia Read More >>

September 22-23, 2016 is Global Genes 5th Annual Rare Patient Advocacy Summit held in Huntington Beach, California

Read More >>

September 22-23, 2016 is Global Genes 5th Annual Rare Patient Advocacy Summit held in Huntington Beach, California

Read More >>

September 28-October 1, 2016 is the National Society of Genetic Counselors Conference in Seattle, Washington.

Read More >>

The Child Neurology Society 45th Annual Meeting is October 26-29, 2016 in Vancouver, British Columbia.

Read More >>

October 22-25 is the American Academy of Pediatrics conference in San Francisco. 
Read More >>

SUPPORT & FOLLOW
Now when you shop at smile.amazon.com, your purchases will support Association For Creatine Deficiencies. 
Enter Association for Creatine Deficiencies as "your charitable organization" and start shopping! 
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ACD's International Patient Registry

 

Supplemental Questionnaire -“Behavior and Sensory Issues.”

This short questionnaire will help expand the knowledge of researchers investigating CCDS. If you have already joined the patient registry, this supplemental questionnaire will take five minutes or less to complete. If you haven’t joined yet, please do!

The ACD Patient Registry is essential to understanding the history and progression of CCDS, to make it easier for researchers to study CCDS, for patients and families to learn more about treatments, and for the ACD to speak on behalf of the CCDS community. PLEASE SUPPORT THIS PATIENT REGISTRY.  Let’s find treatments and cures.

                           

Click here to visit ACD’s International patient registry and to complete the new behavioral and sensory survey >>

New Patient Support Team!

Connect with our support team. They are dedicated to helping coordinate special CCDS related requests, assisting with patient concerns and issues, and sharing information about CCDS.

CTD patients, families, and caregivers email:
Melissa@creatineinfo.org

AGAT and GAMT patients, families, and caregivers email: Kim@creatineinfo.org

Please reach out to them and express your needs, concerns, and opinions. They welcome your emails.  

ACD New Logo and Website

The ACD is excited to share our new logo as displayed in this quarter’s e-newsletter. An exciting website update will be posted in early August, reflecting changes that will allow us to better support the growth of CCDS information and education, and providing easier access to our website content.

Look for new sections on our homepage that feature the most recent events, announcements, and blog posts. The homepage will be updated regularly, so bookmark http://creatineinfo.org and check back often. If you are aware of a relevant resource that should be added, please email us. We will also be adding a large listing of CCDS medical research papers. If you would like to help in this project, please email heidi@creatineinfo.org.

Click here to review the current resources page >>

 

First Annual “Walk for Strength”

June 18th marked our first annual “Walk for Strength”. Over 100 people walked with us in the U.S. from the beaches of California to North Carolina. We reached out to community sponsors who donated the funds for our t-shirts and in total, over $6,000 was raised to support the efforts of ACD. We are already looking forward to walking again next year. Mark your calendars for Saturday, June 10, 2017. We hope to be able to unite even more families around the globe in this awareness event next year. Special thanks to those who participated, those who made donations of support, and our t-shirt sponsors.
 

 

Spring Fundraiser – “Shop For A Cause”

Shop for a Cause was a fundraising event held in Austin, Texas, to benefit  the Association for Creatine Deficiencies. Over 50 women attended Shop for a Cause and enjoyed a night of shopping, appetizers, live music and fantastic raffle prizes. Shop for a Cause was a huge success and raised nearly $6,000 for ACD. Thank you to the event host, Patti Riggs, for putting together a fun-filled night to remember. A special thanks to all the sponsors: Silpada, Rodan + Fields, Essential Bodywear, Younique, Armadillo Crafts, Joyce Stephens-Mixed Media Artist, and the ATAP Trio, as well as all the friends and family for supporting ACD and our efforts to change the lives of those living with CCDS.

 

Ask the Experts

You submitted your CCDS questions and now we have the answers from our Scientific Medical Advisory Board! 

Click here to submit questions for our next e-newsletter!


Q: Is it possible for someone to have a Creatine Deficiency Disorder with only one GAMT mutation?

A: You need two mutations in the GAMT gene to have GAMT deficiency. However, some mutations can be missed by DNA sequencing. Best is to do biochemical testing (plasma guanidinoacetate and creatine). If they are normal, it is NOT GAMT deficiency. If guanidinoacetate is high and creatine is low then it is GAMT deficiency and one mutation could not be identified by sequencing.-Dr. Nicola Longo

Creatine Community Blog

The CCDS community has come together in support of the emotional, poignant, and compassionate stories shared in our new blog. We are so thankful for all the posts submitted so far. There is a true sense of community hearing others struggle through their trials, celebrate their victories, and express their commitment and love for their children. Look for posts from CCDS medical experts coming soon!

Would you like to be a blog contributor? A written blog post could be as short as a few paragraphs or as long as a few pages! If you would like to share the joys and struggles of CCDS and are willing to be a regular contributor on a schedule of every six weeks, or prefer to be a one time contributor, please contact heidi@creatineinfo.org.  

Thank you!
                                                      

Be an Official ACD Volunteer

Help the ACD by volunteering. We have many needs for part time help. See how you can get involved by contacting us at info@creatineinfo.org.

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This newsletter is only intended as information and the ACD does not suggest or indorse any or all related linked articles in "The Insider e-News". Linked site owners -- not the ACD -- own the intellectual property rights to the material on the linked sites and articles.
Copyright © 2016 Association for Creatine Deficiencies, All rights reserved.


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