Issue: # 48
March 2015 
In This Issue

       Don't miss this opportunity to help the DBA Foundation secure $10,000


We only need a few more!  Will you help us reach the $10,000 Challenge? Please make the commitment to support DBA patients, families and research with your monthly donation. (Thank you to all those that have participated.  Please honor your pledge!)

Recently, a great grandmother of a DBA child died and her family has chosen to continue her legacy of giving and generosity by offering the following challenge.

For every new donor that commits to a monthly donation, the family will donate an additional $500 up to $10,000.  Many families and friends support our mission with a $20, $50, $100 or $200+ monthly gift.  Automatic monthly donations can be set up through PayPal or credit cards on our website (, through your banking institution, or a check can be mailed to the DBAF on the 1st or 15th of every month. It's easy and very much appreciated!

The DBAF is grateful to this very special family for their generosity and lasting tribute to a beautiful woman. We hope you will accept this challenge! Please consider partnering with us and become a monthly supporter. Sign up today.

For more information, please contact Dawn Baumgardner at 716.674.2818


Make a difference   

Upcoming Events


DBA Craft/Bake Sale & Blood Drive
April 3, 2015
Lillian Schumacher Elementary School
Liberty, MO 
Lea Ann Soto

Light up the Night 5K to benefit Team Irelynn
April 17, 2015
MC Anderson Park at Georgia
Southern University
Statesboro, GA
More information:

10th Annual Strike Out DBA Fundraiser
April 25, 2015 
Starlite Lanes
Grand Haven, MI
Justin & Tammi Lanore

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" Stickers Available
Dawn Baumgardner 
  window sticker


7" x 5" Decals Available
David Voltz
Cure DBA decal_Voltz.  


AmazonSmile Program
You Shop... Amazon Gives!
If you shop on Amazon, please log in using, select Diamond Blackfan Anemia Foundation as your charity, and shop as usual. Amazon will donate .05% of your purchase to the DBAF.
Good Search/Good Shop  
Raise money for DBAF 
just by searching the web and shopping online!   


Quick Links
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
The Story Behind New Drug Development
DBAF Provides Funding for Drug Screens
Steve Ellis

Editor's Note: This month's e-newsletter will take a slightly different format. Recently, media attention has been given to the development of new drug options for diseases and the important impact that patient advocacy groups like the Diamond Blackfan Anemia Foundation have on the research and development process by providing initial funding. The DBAF's research Director, Steven Ellis, Ph.D., has written this month's feature article to explain the science, the players, and the significance to DBA and the DBAF. Steve's monthly Journal Club article will return next month. 

Drug: a medicine or other substance which has a physiological effect when ingested or otherwise introduced into the body

Defining the term drug turns out to be surprisingly difficult.  A quick Google search afforded me with the definition above.  It doesn't take long however to find fault with this definition, which in my mind would define chocolate ice cream as a drug.  The Food and Drug Administration includes as part of their definition a somewhat similar concept, qualified to ease my ice cream concern.
articles (other than food) intended to affect the structure or any function of the body of man or other animals.

I think most people however, would be most comfortable with the following component of the FDA's definition of drug:
articles intended for use in the diagnosis, cure, mitigation, treatment or prevention of disease in man or other animals.

The field of science that specializes in the all aspects of drugs including their uses, limitations, modes of action, and how to discover more and better drugs is referred to as pharmacology; and industry that specializes in manufacturing, packaging, and marketing drugs, the pharmaceutical industry.  A recent YouTube video highlighting an increased interest of the pharmaceutical industry in identifying drugs for rare diseases like DBA seemed like a natural call for a newsletter article on the relationships between the pharmaceutical industry, academic researchers, and private foundations and advocacy groups.

Pharm 101

Drug Targets

Drugs have their effects via their interactions with molecules within the body.  These molecules are referred to as drug targets.  Sometimes these targets are products of the genes affected in the disease.  A great example of this concept is the drug Kalydeco developed to treat cystic fibrosis.  Kalydeco targets the cystic fibrosis transmembrane regulator (CFTR), a chloride transporter found on the surface of certain epithelial cells in the body, particularly those in the lung.  Kalydeco was developed through a partnership between the Cystic Fibrosis Foundation and the pharmaceutical company Vertex Pharmaceuticals.  As part of this partnership, the Cystic Fibrosis Foundation invested $75 million into research and development at Vertex with the specific goal of identifying a drug to treat cystic fibrosis.

This investment was a huge risk for the CF Foundation because to put all their eggs in the Vertex basket (so to speak) they had to cut back on other lines of investigation.  The risk was mitigated somewhat by the payoff: big risk, big payoff.  With Kalydeco's recent approval by the FDA for treating certain forms of cystic fibrosis, this partnership can clearly be viewed as a resounding success story.  In a monetary sense, this success story could be kicked up a notch to absolutely phenomenal, as the Cystic Fibrosis Foundation has recently sold its royalty rights to Kalydeco for 3.3 billion dollars.

The limits of the Kalydeco success story for patients reside in the fact that this drug targets only a small subset of genetic defects found in the CTFR gene and does not work for, F508del, the mutation found in the majority of cystic fibrosis patients.  However, with 3.3 billion dollars to invest in additional research, the future certainly looks bright for the development of further drugs to treat a wider spectrum of CF patients.

Potentially lost in the Kalydeco success story is that the success of this drug was built on the shoulders of a tremendous amount of basic research on cystic fibrosis funded by private foundations and various government agencies, including the discovery of the CTFR gene in 1989. Without knowledge of the structure and function of the CTFR protein and countless other studies on fundamental approaches to gene discovery, it is doubtful that Kalydeco's success could have been realized.

Similar groundwork work has been, and continues to be, laid down for the DBA field.  Both private foundations and government agencies have supported research on DBA and tremendous progress has been made in the past 10 years on the genes affected in DBA and the pathogenic processes involved.  These studies have led to the identification of numerous potential targets that are being exploited in the development of drugs to improve the lives of DBA patients and their families.  

Family Meeting
Camp Sunshine or Bust!
Camp Sunshine logoThe Diamond Blackfan Anemia Foundation is proud to announce our tenth national family retreat. This retreat will take place during the week of  July 12 - 17, 2015 at Camp Sunshine, which is located at Lake Sebago, Maine. Air carriers fly into Portland, Maine.  Ground transportation is provided by Camp Sunshine to the campus.

Camp Sunshine has proven to be an unforgettable experience for the families that have attended.  We are grateful to Camp Sunshine for extending an invitation to us once again this year. Lodging and three meals daily are provided. Camp also plans daily activities for the entire family, and offers parents an opportunity to share their experiences and exchange information. Aside from the benefit of meeting other families, the DBAF has also obtained commitments from DBA clinicians and researchers to come and share their medical expertise and to update us on current research.

For more information and the link to the application, please
Exjade has a New Formulation
Jadenu tablets can be swallowed

Novartis announced that the US Food and Drug Administration (FDA) has approved Jadenu™ (deferasirox) tablets, a new oral formulation of Exjade.

Please note: It is important to understand the options available for iron chelation. The drug names are very similar 
and can be confusing. Make sure you understand what drug is prescribed. Deferiprone (Ferriprox) is an oral chelator and should not be confused with the new oral formulation of Exjade that is called, Jadenu.


 deferoxamine = Desferal
deferasirox = Exjade AND Jadenu (new oral formulation of Exjade.)
deferiprone = Ferriprox

In the US, deferoxamine (Desferal) and deferasirox (Exjade and Jadenu) are prescribed for DBA patients with transfusional iron overload. Deferiprone (Ferriprox) is NOT recommended, except in severe cases. As stated on pg. 77 in the drug briefing document from the Advisory Committee, "Clinical experience suggests that deferiprone-induced agranulocytosis is more severe in patients with Diamond-Blackfan anemia than in patients with other conditions underlying transfusional iron overload, although small numbers hamper the strength of that conclusion. Nevertheless, ApoPharma recommends that deferiprone therapy in patients with Diamond-Blackfan anemia should not be initiated except as a last resort."


DBA Bracelet of Hope

Handcrafted in Blue Ridge, GA, this meaningful bracelet features five leather bangles in "DBA red." Each bangle represents the "facets" of our DBA world - patients, families, researchers, clinical caregivers, and donors. The silvertone bar on each bangle symbolizes the progress made so far and the silvertone beads are the glimmers of hope we have for a cure. One lone, lab-created ruby signifies the "elusive" red blood cell and is embraced by silvertone, portraying our hope and love. Bracelets are $40 each + $2 US shipping. All proceeds benefit the DBA Foundation to fund research. An explanation of the bracelet is included. Order via PayPal at or send a check to DBA Bracelets, c/o Kathi Vroman 6268 Benbrooke Way, Acworth, GA 30101. These are beautiful! Thank you, Kathi.

Where Are You ?
Help Us Keep in Touch

Did you move? Need to add a new address, phone number, email address? Are you a recently diagnosed family?

Please help us keep our records current! Take a moment to visit our website and fill out the registration form. Patient/Family Registration Form 

Help us to reach all our families.
If you are aware of other DBA families in your area, please encourage them to contact the DBA Foundation.

Please note that the Diamond Blackfan Anemia Registry (DBAR) and the Diamond Blackfan Anemia Foundation (DBAF), are not allowed to share your personal information.  It is necessary to register with both the DBAR and the DBAF.

If you have any questions, or to check on the status of your information, contact Dawn at 716.674.2818 or 

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Social Media is a great way to get our message out and keep us connected.

Please make sure you "like" us on Facebook and then help spread DBA awareneness by sharing our page and asking your friends to like us, too!

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