Issue: # 26 January 2013 
In This Issue
Thank You for the Great Year
Show Us Your Logo
Important Announcement
DBAF Journal Club
Check Out Our New Website
Matthew Polar Plunge tshirt 2013
It's Polar Dip time again for Camp Sunshine!! Many of our friends and families are joining in the freezing "fun" and raising money for DBA family sponsorships at Camp Sunshine. Please check out their sites and consider a donation. Please be certain to indicate your donation is for a DBA family. 

Jan. 19 - Wachusett Polar Dip 
DBA Dazzling Diamond of Hope recipient, Matthew Pulnik, is at it again! His team, Team Lemonade for DBA, is trying to raise enough money to sponsor 2 DBA families.
Team Lemonade

Jan. 26 - A.J.'s Polar Dip 
Growing up at Camp SUnshine, AJ Cincotta-Eichenfield has known many families of children with DBA for as long as he can remember. So, he is particularly interested in having some of the funds he raises go to support DBA families.
AJ's Polar Dip

Feb. 2 - Virginia Polar Dip 
Two DBA families that have personally benefited from attending Camp Sunshine are willing to be "Freezin for a Reason" and have formed teams. Check them out:
Team Mac
Team Eliza Luddy for DBA

Many thanks to all our brave plungers and those supporting them! Stay warm! 

Upcoming Events

Webinar - Dr. Thomas Coates' presentation on "Monitoring and Management of Transfusional Iron Overload January 24, 2013

For more information, please 


Annual Strike Out DBA 
Bowling Fundraiser
April 13, 2013 
Grand Haven, MI
Tammi Lanore  


Jack's Fight for a Cure
(to benefit DBA Canada)
May 3, 2013 
Caledon, Ontario 
Janet Pereira
DBA Family Meeting 
July 2013
Dates to be announced   
Camp Sunshine
Casco, ME 
Dawn Baumgardner
Ongoing Fundraisers


Family Letter Writing Campaign  
Pre-printed letters and envelopes have been created for you to send to your contacts! Call or email for more information.
Dawn Baumgardner
Wristbands Available 
Twila Edwards
Tribute Cards Available
(2 Styles)
In honor of...
In memory of...
Dawn Baumgardner 
  donation donation
5" x 5" Decals Available
Dawn Baumgardner 
  window sticker

Cookbooks Available  
Betty Lightner  
To order online, visit:
cookbook cover  


Good Search/Good Shop  
Raise money for DBAF 
just by searching the web and shopping online!   


Quick Links

Like us on Facebook

Follow us on Twitter
The Diamond Blackfan Anemia Foundation (DBAF) is committed to keeping you updated and connected to the entire DBA community. The DBA Foundation is YOUR Foundation!  We encourage you to share your ideas, photos, and stories for our website and upcoming newsletters.  Contact us at
Thank You for the Great Year
2012 was a very good year!
The Diamond Blackfan Anemia Foundation (DBAF) is grateful to the many families and donors that allow us to continue fulfilling our mission of supporting DBA patients, families, and research. A look back at 2012 should make all of us proud! Through the dedication, hard work, and generosity of our families and friends, the DBAF has had another successful year. 
In 2012, we were able to fund two new research projects. Grants were awarded to Dr. Fred Goldman and Dr. Steve Ellis. Additionally,
window sticker
we were able to fulfill our previous financial commitments to Dr. Adrianna Vlachos and Dr. David Bodine.  The DBAF proudly supported the twelfth annual Diamond Blackfan Anemia International Consensus Conference sponsored by the Daniella Maria Arturi Foundation and the ninth International Conference on Ribosome Synthesis. To read more about these exciting projects and conferences, please Click Here.


The DBAF is proud of our many accomplishments in 2012.  Once again, our families met at Camp Sunshine for another record breaking year. We came together for a week in July to learn, to share, to celebrate, to cry. For more details, please Click Here

ASH booth 2012 In December, The DBAF exhibited at the American Society of Hematology (ASH) meeting for the first time, and represented Diamond Blackfan Anemia at this premier meeting with over 20,000 worldwide hematologists in attendance. To prepare for our ASH debut, our new website was launched and new marketing materials were created.  In October, the DBAF warmly welcomed Anthony Marchese, PhD of Fort Collins, CO to the board.

Marchese familyWe are confident his skills and expertise will help us further our mission of advancing research initiatives that promote a better understanding, therapeutic strategies and a cure for Diamond Blackfan Anemia. We are honored to have Anthony on the DBAF's Board.

In September 2012, the Diamond Blackfan Anemia Foundation pulled off a huge win! It took teamwork,
tenacity, sleepless nights (and days), creativity, and a whole lot more... but we did it! Thanks to the hard work and commitment of many, the DBAF was awarded $100,000 through the Chase Community Giving Program.  To read more about all of these stories, Click Here. 


The DBAF eagerly served more patients and families. More patients were registered, more emails and phone calls were answered, more subscribers to our e-newsletter, more Twitter and Facebook followers, more... more... more!  We are grateful and humbled to be a part of so many DBA families' lives.


Lastly, the DBAF rolled out our first letter writing campaign. We need your support to continue our initiatives and are grateful to the families that responded with their personal donations and fundraising efforts. This campaign is an easy way to help the DBAF continue to support DBA patients, families, and research. It's never too late! Letters are still available... and we need you now, more than ever. For more information, please contact Dawn at or 716.674.2818.

THANK YOU for your support!  We are looking forward to a great 2013!

Show Us Your Logo
Christmas ornament


Look closely and what do you see?  Hundreds of our beautiful DBAF ornaments glistened and dazzled on Christmas trees all over the world!  Thank you to the Singhas family of Amissville, VA for making these very special ornaments available.  Can't wait to see next year's!  (Many have made these beautiful ornaments a year-round decoration by hanging them in their cars!)


Here's the challenge: We would like to see how many places we can show off our logo! Snap a picture sporting our logo and send us your story. Draw it, print it out, wear it, wave it, tattoo it, carve it, stick it... be creative!  Take us to school, on vacation, to the hospital, on a plane, to the game, in your home... anywhere!  Show us your logo!  Send your photos and stories to


Important Announcement
Research Study Needs YOU!
The DBAR has noted that many patients with DBA have issues that may be due to the hormone-producing gland (endocrine) system abnormalities, including short stature, thyroid dysfunction, delayed puberty in both boys and girls, and diabetes. We are interested in determining if these problems are due to long-term continuous steroid use, iron overload from transfusion therapy or from DBA itself. We are therefore recommending an endocrine evaluation for all DBA patients, those with endocrine issues and those without. We are hoping to assist those with endocrine abnormalities as well as document what they are. We are also gathering information on patients without endocrine problems to see if we can screen for them, predict them in advance, and possibly treat them before they occur.
The Divisions of Pediatric and Adult Endocrinology at Cohen Children's Medical Center and North Shore LIJ Health System, respectively, in collaboration with the Diamond Blackfan Anemia Registry (DBAR) are conducting a research study to understand the effects of steroid and blood transfusion therapy on the endocrine system in patients with Diamond Blackfan anemia.  Researchers wish to compare the endocrine function of DBA patients (those receiving and not receiving blood transfusions) to patients with beta-thalassemia major who are also treated with chronic transfusions.
Eligibility Criteria:

You may be eligible to participate in this study if you are:

  • Age 1-39 years; and
  • Diagnosed with DBA; and
  • Enrolled in DBA Registry (DBAR)

You may not participate in this study if you are:

  • Pregnant; or
  • Have received a bone marrow transplant

If interested please contact Eva Atsidaftos or Ellen Muir at the DBAR at 888-884-3227 or Dr. Amit Lahoti (Pediatric Endocrinology fellow) at 516-472-3769 or 516-472-3750.


Participation in the study involves a standard endocrine evaluation. This includes blood tests that can be ordered and drawn at your institution. In this study, we will ask for a usual endocrine evaluation on steroid dependent patients, red cell transfusion dependent patients, as well as those patients in remission. The participation consent asks for permission for the DBAR and our endocrinology collaborators to receive the endocrine evaluation results. We will hopefully be able to have some results available by this summer. Our goal is 75 DBA patients and 25 thalassemia patients total for the study. THANK YOU IN ADVANCE FOR YOUR PARTICIPATION!!!  


DBAF Journal Club

Missense Mutation Muddle

Steve EllisHave you received a genetics report summary that looks something like this?

"The T60P missense variation is likely a disease causing mutation but without further evidence of the pathogenic nature of this variant we are not able to rule out the possibility that T60P is a benign coding polymorphism."

So, the mutation in this case is responsible for the disease in your child.........unless it isn't.  Confusing, isn't it?  Sadly, such a report is not unusual and points to certain limits of genetic analyses.  The mutation described above was identified in RPS19 when it was the only gene known to be involved in DBA.  With somewhere between 10-15 genes now known, and with scientists sequencing whole exomes (expressed regions of the genome, millions of bases of DNA) and whole genomes (the entire genome, billions of bases of DNA) in DBA patients in patients where the genes affected are unknown, we are going to be faced with more and more sequence variations where judgment calls will need to be made regarding their pathogenic nature.


Continue Reading


Check Out Our New Website

New Look... New Faces  

new_iconWe hope you have had a chance to check out our new website!!  
The DBAF strives to keep you informed and updated.  Please visit our website frequently to stay connected! 

Your faces make our website personal and inspirational.  Thank you to all who have submitted photos and quotes. If you would like to be added to the site, please send a high quality photo and a short quote to Your suggestions and comments are always welcome!