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January, 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. Read more >

ACD'S Action Report

Thanks to the support from our community the ACD was able to raise nearly $20,000 this fall. Here are some of our current initiatives:

  • Continued presence/exhibits at medical conferences
  • Increased involvement at Autism events
  • Announcing non-drug research opportunities to the community
  • Continued collaboration with NORD and Global Genes
  • Support of Rare Disease Day initiatives
  • Newborn screening advocacy 

CCDS vs. CDS

The ACD is moving toward using the medical acronym CCDS in reference to Creatine Deficiency Syndromes. While nothing has changed in regards to the symptoms or diagnosis of Creatine Deficiency Syndromes (CCDS), recently it has become the industry standard to refer to GAMT, AGAT and CTD as Cerebral Creatine Deficiency Syndromes (CCDS). It is our goal to maintain medical accuracy so we will make modifications to reflect this practice.

Ask the Experts

Ask your questions and one of our Scientific Medical Advisory Board members will answer you. Click here to submit and look to see if your answer is in one of our next e-news issues!

Q: We have had a few parents and one of our own board members comment about their concern of crystals in urine, in CCDS patients. Do you know if this is normal? And is there a concern of the kidneys in this case?

A: It’s very common to have amorphous crystals in anyone’s urine, and it is not generally meaningful (as opposed to cysteine, oxalate, uric, etc…). I do not think there is anything that crystallizes associated specifically with any of the CCDS’s. –Dr. Bruce Barshop

A: I usually tell patients to drink plenty of water when they take creatine to avoid stone formation. I have never seen a problem with creatine supplements in my patients with GAMT (up to 1 g/kg per day of creatine). I agree with Dr. Barshop that we see crystals in urine of people not taking anything all the type and usually they have no clinical significance. - Dr. Nicola Longo


Q: Is there any benefit of using liposomal creatine over regular creatine to treat CCDS?

A: The liposomal form works as well as regular creatine and would not enter the brain any better than regular creatine since the liposome coat is lost after absorption. Liposomes work great in cultured cells, not as well in vivo. – Dr. Nicola Longo

Special Interest

ACMG 2016 Conference

The ACMG Annual Clinical Genetics Meeting is around the corner. The 2016 meeting is scheduled for March 8-12 at the Tampa Convention Center in Tampa, Florida. Florida residents, come visit ACD at booth #231 at the ACMG Exhibits 3/9-3/11.
Read more >

Autism Speaks Walk

ACD will be attending the Los Angeles walk April 2, 2016 in Pasadena at the Rose Bowl.
Read More >

SDBP 2016 Conference

The Society for Developmental and Behavioral Pediatrics Annual Meeting will be held September 16-19, 2016. It will be held in Savannah, Georgia. More than 400 professionals are expected to attend. 
Read More >

NSGC 2016 Meeting

The meeting of the National Society of Genetic Counselors will be held September 28-October 1, 2016 in Seattle, WA. 1,900 professionals are expected to attend. 
Read More >

Support & Follow
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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! 

Patient Registry

Coming together to Change Lives!
Join the Patient Registry. Why register? It is important to collect critical information to understand the history and progression of CCDS, to make it easier for researchers to study, for patients and families to learn about treatments and for advocates to speak on behalf of the CCDS community.
Click here to register now >

PatientStrong

Due to the lack of applicants, the ACD did not award a grant for the previous funding session. The PatientStrong Grant program is now accepting applications for the May 31st deadline.
Click here to view eligibilities, dates, and application > 

 

We Are Rare

The ACD is a proud participant of Rare Disease Day. Help us spread CCDS Awareness on February 29, 2016. For Rare Disease Day information, click here.

To get your Rare Disease Day awareness ribbon, contact melissa@creatineinfo.org

The Super Heroes Of CCDS

Writing a personal story, read by others, tells our community that no one walks alone with a CCDS diagnosis. Click here to read Trenton’s story > 

Be A Champion For CCDS, Volunteer Today.

Help the ACD by volunteering. Contact info@creatineinfo.org to see how you can get involved.* We can’t do it alone. The ACD will be officially attending a handful of Autism Speaks Walks across the country in 2016. Check this list regularly for walks in your area and show up wearing your ACD shirts and hand out brochures to people you may meet. Many children with a CCDS are initially diagnosed with Autism. Contact us for more ideas and brochures. 

*In need of a certified CPA and grant writers willing to donate and/or volunteer time. 
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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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