The start of a brand new year brings reflection on the past 365 days and the promises and hopes of the next 366 days (Yes, 2012 is a leap year!). 2011 was a very successful and promising year for the DBA Foundation. The DBA Board of Directors wishes to thank all those that have contributed to this monumental year.
More researchers than ever before have submitted research proposals to the DBAF. More research was funded, more understanding of DBA is being sought, more clinical trials are being conducted, more "DBA genes" are being found. More families than ever before have reached out to the DBAF for information and support. More people are visiting our website, receiving our monthly e-newsletters, following us on Twitter, and becoming Facebook fans. Most importantly, more doctors, researchers, patients, and families are learning about DBA and educating themselves about the causes of DBA, treatment options, and proper management and monitoring of the disorder.
Yes, 2011 was certainly a "Year of More." With the growing demands and responsibilities of the DBAF, we are happy to announce that Dawn Baumgardner will now be employed by the DBA Foundation as the full time Executive Director. For the past 18 years, Dawn has headed the DBAF and served our families as an unpaid volunteer. We are pleased that the growth of the DBAF has warranted the necessity of a full time Executive Director and pleased Dawn has accepted this position.
As we look ahead to 2012, we are hopeful for continued success and continued support from our families and friends. Each of us wishes for, hopes for, dreams about a cure. We know that to achieve that goal, we have to work for a cure. The DBA Foundation hopes all our families make 2012 the year they get involved. There are many ways to share your time, talents, and treasure. We urge each of you to make a resolution to reach out to the DBA Foundation. Please give Dawn a call at 716.674.2818 to learn more about the DBAF.
The DBAF Board sincerely appreciates the efforts of all that have made 2011 such a successful year. We thank all the doctors and researchers, our Scientific Advisory Board, partner organizations and businesses, regular e-newsletter contributors, Ellen Muir and Steve Ellis, our readers, donors, supportors, volunteers, friends, families, and patients. We realize that it is because of YOU that we are able to continue to support DBA patients... families... and research. THANK YOU!
A very special thank you to our Research Director, Steven R. Ellis, PhD. Steve provides an invaluable insight and direction that allows the DBAF to succeed and grow. We are grateful for Steve's selfless contributions, tireless work, and expertise. Steve has dedicated countless hours to ensure that the DBAF fulfills our mission and we appreciate his time, passion, and commitment to Diamond Blackfan Anemia and the DBA Foundation.
So... thank you one and all for being a part of our DBA family. The DBA Foundation wishes everyone a happy, healthy, prosperous 2012!
January 21, 2012
March 21, 2012
New Hyde Park, NY
DBA Bowling Fundraiser
April 21, 2012
Grand Haven, MI
DBA Family Meeting
Dates to be announced
Casco, ME Contact:Dawn Baumgardner
Friends of DBAF Golf Outing
& Silent Auction September 15, 2012
Cherokee Hills Golf Club
Valley City, OH
Jim & Carol Mancuso
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.
Tribute Cards Available
(2 styles) In honor of...
In memory of...
Good Search/Good Shop
Raise money for DBAF
just by searching the web and shopping online!
|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 DBAFoundation@juno.com.
DBA Research Needs You
ATTN: DBA Parents and Patients
As announced last month, the DBA Foundation (DBAF), with support from DBA Canada (DBAC), awarded a $125,225 grant to the Diamond Blackfan Anemia Registry (DBAR) at Cohen Children's Medical Center (Dr. Adrianna Vlachos and Dr. Jeffrey M. Lipton) along with the National Human Genome Research Institute (Dr. David Bodine) for their efforts in gene discovery. The DBAR collects DNA from blood samples of DBA patients and their families and is attempting to discover new genes responsible for DBA. With this information we hope to have better treatments, better stem cell transplant options, and more specific reproductive choices.
Since the money awarded goes directly to DBA research, the DBAR needs your blood samples to do that research. They ask that you get the regular genetic screening first from your hematologist. The DBAR recommends the use of Ambry Genetics. This company is able to test for the 11 identified genes known thus far. Most of the time, this testing is covered by your insurance company (Medicaid will also be accepted for many states.). If you already know your gene, or Ambry Genetics identifies a gene for you or your child, then please just let the DBAR know those results. If there is no gene identified after testing, your family qualifies for further studies through the DBAR (which are funded by the DBAF grant).
Your enrollment in the DBAR and participation in this study is strongly encouraged. Please call Eva Atsidaftos, MA at 1-888-884-DBAR (3227) for more information about the DBAR and this study.
Remember to have meaningful data, the DBAR needs every DBA patient's medical information. Additionally, they can not conduct research without your and your children's blood. Your participation and blood samples can really move the DBA research forward.
To stay "in the know" and to receive all the DBAF's updates, please ensure we have your correct contact information. Complete the secure form at http://www.dbafoundation.org/registration.php
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 DBAFoundation@juno.com.
Show Us Your Logo!
Look closely and you will find our logo on these awesome DBA cookbooks. Bailey Lightner and her friend, Addison, are the DBA Foundation's cutest, most irresistible cookbook "salesladies."
Many thanks to Bailey's mom, Betty, for all her hard work. Cookbooks are still available!
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... 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 DBAFoundation@juno.com.
|DBA Fact #8
Our Facebook Page posts DBA facts written by DBA nurse, Ellen Muir, RN, MSN, CPON. We are pleased to share these facts with our patients and families. Thanks, Ellen!
Some things to consider when having a port placed:
Always weigh the risks and the benefits of any medical intervention.
A port is a small medical device placed under the skin and is used to infuse fluids for medical treatment into the blood stream and to also withdraw blood from a large vein. It is accessed with a special needle, in usually one stick. Its parts include a reservoir with a septum (area where the needle is inserted), and catheter. The special needle used to access it is called a 'huber' needle. It has a 90 degree bend so it is comfortable when in use and is 'non coring,' which means it won't leave a hole when the needle is removed.
A port may sometimes be referred to as a port-a-cath, mediport, or passport. Depending on the manufacturer, the name varies. Just as the name varies, so does the size and materials it is made of. Most port reservoirs are made of stainless steel, titanium or plastic. For anyone who may need to have a cardiac MRI to look for iron overload, we recommend a plastic port so it does not interfere with the results. If it cannot be plastic, placement outside the scanning field is recommended (such as right side of chest). If your hospital does not use plastic ports, they can be special ordered.
The reservoir has a silicone septum which allows it to be punctured with a special needle, hundreds of times. It is self sealing so it does not leak when the needle is taken out. The catheter, which attaches to the reservoir, is made of a soft, bendable silicone or polyurethane. The surgeon must make a pocket for the reservoir under the skin, usually in the chest area. Speak to your surgeon to decide on what area is best for you. Your options for placement are upper chest, over the ribs (under the breast), or sometimes in the forearm. The catheter is then threaded through a major vein and ends at the superior vena cava of the heart.
Poor IV access when receiving monthly blood transfusion is one reason for placing any type of central venous access device (CVAD). Other reasons may include for delivery of chemotherapy, IV nutrition, antibiotics and for dialysis. A Broviac (Hickman, Groshong) is another type of CVAD, where the access point is outside of the body. This type of 'tunneled catheter' is what is used during stem cell transplantation. A peripherally inserted central catheter (PICC) is another type of external catheter that is used for temporary IV access.
IV's can be started quickly and relatively easily without repeated needle sticks. You can continue to bathe and even swim with a port once the surgical incision has healed. A numbing cream can be placed to the port site 30 minutes before accessing it so you don't feel the pinch.
Some homecare agencies will not provide 24/7 Deferral therapy with an IV that is not a central line. A port is a good option.
Infection - a severe bacterial infection can compromise the device, require its surgical removal, and seriously jeopardize the health. To prevent infection, these ports are accessed using sterile technique, the needle should be changed once a week. If you experience fever, you need to seek medical attention immediately, so blood cultures can be taken (sometimes from the port and from a vein in the arm). Antibiotics need to be given through the port right away to prevent sepsis, a serious life threatening blood infection.
If receiving 24/7 IV therapy, the dressing must stay dry and needle be changed weekly to prevent any bacteria from growing.
Thrombosis - formation of a blood clot in the catheter may clog the port. To prevent clotting, the port is flushed with saline and heparin, usually by a nurse or other medical professional, or someone properly trained that is a family member or the patient, at least once every four weeks, if not being used and after it is used for treatment or blood draw.
If a thrombin sheath forms at the tip of the catheter (forms a kind of flap) blood is not able to be withdrawn. The catheter can still infuse as it the flap is pushed away with pressure of the fluid. In the future, this may become a complete blockage or be a source of infection.
Mechanical failure- sometimes when withdrawing blood the tip of the catheter is pulled against the wall of the vein and no blood is able to be withdrawn, due to too much suction. The catheter can still infuse as it is pushed away from the vein wall with the pressure of the fluid.
Infiltration- if the needle is not placed through the port septum, fluid can leak and cause pain, swelling and sometimes redness.
Age - If the device is put into a child, the child's growth means that the catheter becomes relatively shorter and will move further away from the superiorvena cava - it may be necessary to remove or replace it.
Complications can occur during surgery, speak to your surgeon and anesthesiologist.
If you are trying to decide which port is right for your needs, you can contact me and I can help guide you on a more personal level.
Ellen Muir, RN, MSN, CNS 877-DBA-NURSe (322-6877) firstname.lastname@example.org
|DBAF's Monthly Journal Club
Steven R. Ellis, PhD
DBAF Research Director
No, not as in the "final frontier"- type of space, but instead the type of space those individuals trying to determine the three dimensional structure of biological macromolecules find themselves in.
A way of determining the structure of a molecule too small to see is to first form solid crystals of these molecules, and then bombard these crystals with directed X-rays and measure how the molecules within the crystals diffract the X-rays. The reflections collected from the diffracted X-rays provide information about electron densities within a structure and bond distances between atoms. Using this information, and tens of thousands of calculations, it is possible to deduce the structure of many types of molecules that are medically relevant. The reference to reciprocal space relates to the fact that there is an inverse relationship between bond distances between atoms in the structure and the angle in which the X-rays diffract. Consequently, when you measure the reflections produced from diffracted X-rays, larger reflections equate to smaller molecular units and vice versa......go figure.
X-ray diffraction was developed in the early 1900's by William Lawrence Bragg where it was first used to determine the structures of relatively small molecules. As the technology increased, it became possible to determine the structure of increasingly large structures culminating with the solution of the first three-dimensional structure of a protein in the 1950's by Max Perutz and John Kendrew. The protein was myoglobin, a relatively small oxygen binding protein isolated from the muscle of sperm whales. Since this time the structures of hundreds, if not thousands of different proteins, have been solved.
By now you might be scratching your head wondering where I am going with this discourse. Well, around the turn of the millennium the three dimensional structure of a small ribosomal subunit was solved 1, followed shortly by the structure of the large subunit 2, and then both subunits joined as the ribosome itself 3. As impressive as these feats were, they were of somewhat limited value for those of us working in the DBA field because these structures were for bacterial ribosomes, and the majority of DBA genes encode ribosomal proteins that are not found on the bacterial ribosome. Instead, many of the ribosomal proteins affected in DBA appear to be bells and whistles added to the basic structure of the bacterial ribosome as more sophisticated organisms including us, evolved.
All this brings me to this month's Journal Club and a manuscript published in the journal, Science, reporting the three dimensional structure of the yeast ribosome, which for all intents and purposes of this Journal Club is much like our own4. Fortunately, the journal Science allows their figures to be reproduced for educational purposes, so I can show you the structure of the ribosome deduced by Ben-Shem and colleagues in the attached document. Just to give you a feel for what went into solving this structure, the researchers had to pinpoint approximately 13,000 amino acid residues comprising the 80 ribosomal proteins and over 5,500 nucleotides that make up the 4 ribosomal RNAs, all I might add while working in reciprocal space.
What this structure provides is the precise location on the ribosome of the known ribosomal proteins encoded by DBA genes. While this information is gratifying, one could reasonably ask whether it illuminates why the loss of these proteins causes DBA. Not really, at least not to me in the limited time I have had so far to peer into this remarkable structure. But alas, I am just one person, and while I may know a little bit more about ribosomes that the average person on the street, there are a lot of outstanding ribosomologists around the world, anyone of which may look at this structure and derive a key insight that may push the DBA field to the next level.
Speaking of ribosomologists, it just so happens that there will be a world-wide gathering of these specialists in August of 2012 at the tri-annual Ribosome Synthesis meeting to be held in Banff, Alberta. Moreover, Marat Yusupov who led the group that solved the yeast ribosome structure will be one of the plenary speakers at this conference. This meeting will also have a second plenary speaker who is non-other than our own Dr. Jeffrey Lipton. Dr. Lipton as you might expect will be speaking on ribosomes and disease, with DBA no doubt prominently featured in this talk. Further, I should mention that the DBA Foundation has pledged financial support for this meeting further increasing DBA visibility within the greater ribosome community.
Traditionally, the ribosome synthesis meeting is attended by some pretty hard core ribosome types you probably wouldn't want to meet in a dark alley. But in recent years more and more hematologists have begun to infiltrate this meeting, reaching the point this year where ribosomes and disease has become a major focus of the meeting. So, last Journal Club I wrote about how some of the leading hematologists in the world are thinking about ribosomes with this month's Journal Club holding the promise of another reciprocal relationship with some of the leading ribosomologists in the world puzzling over hematology.
With so much attention now being focused on DBA on so many different fronts, the future looks bright for greater understanding of this disease which we all hope will translate into improved treatments.
1. Wimberly BT, Brodersen DE, Clemons WM, Jr., et al. Structure of the 30S ribosomal subunit. Nature. 2000;407(6802):327-339. Prepublished on 2000/10/03 as DOI 10.1038/35030006.
2. Ban N, Nissen P, Hansen J, Moore PB, Steitz TA. The complete atomic structure of the large ribosomal subunit at 2.4 A resolution. Science. 2000;289(5481):905-920. Prepublished on 2000/08/11 as DOI.
3. Yusupov MM, Yusupova GZ, Baucom A, et al. Crystal structure of the ribosome at 5.5 A resolution. Science. 2001;292(5518):883-896. Prepublished on 2001/04/03 as DOI 10.1126/science.1060089.
4. Ben-Shem A, Garreau de Loubresse N, Melnikov S, Jenner L, Yusupova G, Yusupov M. The structure of the eukaryotic ribosome at 3.0 A resolution. Science. 2011;334(6062):1524-1529. Prepublished on 2011/11/19 as DOI 10.1126/science.1212642.