|Keep Writing |
for a Cure
Although many advances have been made in understanding DBA, more needs to be done if we are to find better treatment options, and hopefully, a cure. As DBA families and friends, we have a vested interest and a responsibility to ensure that research continues.
Our hope for a cure is research.
The DBAF receives grant proposals from researchers around the world. We are excited and encouraged that DBA has caught the attention of prominent researchers. But... that means we need your support more than ever!
The DBAF is asking our families and friends to support our efforts with your personal donation and commitment. Next, we are hoping for your participation in a letter writing campaign. The DBAF has written and printed the letter for you, and will provide you with the requested number of letters and envelopes.
Simply sign the letter with a personal note and mail to your friends and families. It's quick and easy! The DBA Foundation is a 501(c)(3) organization and all donations are fully tax deductible as allowed by law.
Our hope for a cure is research.Your participation in this letter writing campaign is encouraged and appreciated. The DBA Foundation is proud of our accomplishments. We realize that it is only through the commitment of our friends and families that we are able to fulfill our mission of supporting DBA patients, families, and research.
Please feel free to contact Dawn regarding this opportunity to help the DBA Foundation at email@example.com or 716.674.2818.
Chase Community Giving Voting Period
September 6-19, 2012
Please help us win by sharing this opportunity with everyone you know. Watch Facebook and your inbox for more details and the link to our voting page.
Friends of DBAF Golf Outing
& Silent Auction
September 15, 2012
Cherokee Hills Golf Club
Valley City, OH
Jim & Carol Mancuso
DBA Spaghetti & Lasagna Dinner
September 15, 2012
4:00 - 7:00pm
Linden United Methodist Fellowship Hall
KJG Golf Outing
October 15, 2012
9:00am Shotgun Start
Black Swan Country Club
Sally Thompson Gately
Jump Day for DBA
October 21, 2012
1:00 - 5:00pm
Rolling for Robert in Support of DBA
October 27, 2012
5:30 - 7:30pm
Scooter's Rolling Place
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
In honor of...
In memory of...
5" x 5" Decals Available
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 us at DBAFoundation@juno.com.
"Chase-ing" the Prize Money
Since 2009 when the Chase Community Giving Program was established, over $20 million has been awarded to over 500 charities. Each Chase Community Giving campaign has specific criteria that the charity must meet. In order to participate in the upcoming 2012 Fall Campaign, a charity must have been nominated, accept the nomination, and qualify.
Here comes the exciting news! The Diamond Blackfan Anemia Foundation was nominated, accepted the nomination, and we qualify!! So... we have a great chance to share in the $5 million awards. Just by accepting and qualifying, we will already share in a $2.5 million award!
And here comes the plea! We need ALL of you, every single one of you, to spread the word and be responsible for helping the DBA Foundation receive votes... votes... and more votes (please)! The top 196 charites with the most votes will win between $10,000 and $250,000.
Chase customers and Facebook users will have the opportunity to vote between September 6-19. More details will follow on our website, Facebook page, and through emails. The official rules can be found on Chase Community Giving's Facebook Page.
We often hear phrases like like "DBA Strong, " "DBA Family," and "small, but mighty." So... Let's do this small, strong, mighty family!
(Just a note... our friends at Fanconi Anemia Research Fund (FARF), with fewer families that DBA, won $25,000 in Chase's last campaign. This CAN be done, if everyone gets involved!)
Please start thinking of ways you can ask, encourage, and beg Chase customers and Facebook users to vote for us!
The key will be to reach as many potential voters and make it easy for them to vote. Facebook friends, pages, postings and your personal emails with the direct link to our voting page are easy and effective ways everyone can help. Please consider asking anyone and everyone to help us. High schools, colleges, newspapers, youth groups, church groups, community organizations, other Facebook pages and groups... wherever Facebook users are... we need to be!
The voting period is September 6-19, 2012.
The DBAF will be posting the direct link to our voting page as soon as voting begins!
Feel free to call the DBAF with your ideas! 716.674.2818
Show Us Your Logo!
Chelsey Faye Brown, mom to four year old twins, Paige and Payton, is ready to "wreck DBA." Diamond Blackfan Anemia was featured on the raffle car at a recent demolition derby in Virden, Manitoba, Canada. Thanks for crushing DBA, Chelsey!
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 DBAFoundation@juno.com.
|DBA Fact #10
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!
Please use this information to have a conversation with your hematologist. Together you can work to prevent the effects of transfusional iron overload.
Iron is naturally absorbed from food through the intestines and transported throughout the body by transferrin, a protein produced by the liver. Iron contained in blood transfusions, bypasses the intestines and goes straight into the body's circulation. About 70% of the iron transported is incorporated into the hemoglobin inside red blood cells. The remainder is stored in the tissues as ferritin or hemosiderin, and small amounts of it are used to produce other proteins such as myoglobin, and some enzymes. Since DBA patients cannot make their own red blood cells (which is why they are transfused in the first place!), all of the iron is stored in the body's tissue and organs causing them to work harder and possibly cause organ failure.
In some patients, ferritin may not necessarily reflect the amount of iron that needs to be unloaded from transfusions. Ideally, to assess the level of excess iron, patients should have a MRI (T2*) or a liver biopsy. If these are unavailable, or you cannot get them frequently enough, these following common lab tests may help to determine if you are being chelated adequately:
Transferrin is the main protein in the blood that binds to iron and transports it throughout the body. The amount of transferrin that is available to bind to and transport iron is reflected in measurements of the total iron binding capacity (TIBC), unsaturated iron binding capacity (UIBC) or transferrin saturation (% sat).
Ferritin is an iron-containing protein that is the primary form of iron stored inside of cells. The small quantity of ferritin that is released into the blood is a reflection of the amount of total iron stored in the body.
- Serum iron - measures the level of iron in the blood.
- TIBC (total iron-binding capacity) - measures all of the proteins in the blood that are available to bind with iron, including transferrin. Since transferrin is the primary iron-binding protein, the TIBC test is a good indirect measurement of transferrin. The body produces transferrin in relationship to the need for iron. When iron stores are low, transferrin levels increase and vice versa. In healthy people, about one-third of the binding sites on transferrin are used to transport iron.
- UIBC (unsaturated iron-binding capacity) - measures the reserve capacity of transferrin, the portion of transferrin that has not yet been saturated. UIBC also reflects transferrin levels.
- Transferrin saturation - This is a calculation that is done with the iron test result and TIBC or UIBC. It represents the percentage of the transferrin that is saturated with iron. This number should be less than 50%. If this is higher than 50%, it mean that there is not much more room to transport out any more iron.
- Serum ferritin - reflects the amount of stored iron in your body; ferritin is the main storage protein for iron inside of cells. Since this level is elevated with any stress on the body, it is not accurate as a single measurement. You need to monitor a trend. Steady upward trend is showing a buildup of iron. One high level is showing an 'acute phase reactant', where there is stress on the body, such as illness. Start chelation when 1000- 1500 ng/ml on more than one occasion, when feeling well.
Just a reminder, the starting dose of chelating agents are:
Exjade 20 mg/kg/day every day. Every dose missed is a day that iron is causing damage. The dose can be increased up to 40 mg/kg/day. If you experience side effects - nausea, diarrhea, rash, elevated liver function tests, you can go back to your last dose tolerated and go up slowly to maximum dose.
Desferal (DFO) 40 mg/kg/day either subcutaneously (SQ, SC) or intravenously (IV). Maximum dose is 60 mg/kg/day. It is believed that high doses of DFO can cause delayed growth. So can iron overload!! DFO doesn't work when it is not being infused. The longer you can tolerate it, the better job it will do. If you can handle 12 hours as opposed to 8 hours at the same dose - Great!
Deferiprone (L1) it is true that this drug may cause irreversible agranulocytosis- your counts can drop and never recover, this doesn't mean that there are not situations which may be beneficial to use this drug. With careful monitoring of blood counts, this drug is very effective in unloading iron in desperate situations such as heart failure.
Under chelation -- missed doses, partial doses, not high enough doses, can cause the medicine to pull iron from one area of the body, but not have enough there to escort it out of the body, thus, it will redeposit it somewhere else. So your liver may look good but now the iron is in your pancreas or heart.
Depending on degree of iron overload, these drugs can be used in combination.
Remember to have your vision and hearing checked yearly. High doses of chelators can cause changes. This is mostly due to toxicity (not enough iron to be removed).
Please be aware that iron overload is preventable and reversible!! Do not give up. The war on iron is on. So grab your chelators and with knowledge, support, courage and patience, you can win!
Please feel free to contact me with any questions or concerns. Thank you.
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|
Dateline: August 22-26, 2012
Locale: Banff Alberta Canada
For the past several days your intrepid reporter has faced wild animals, oxygen deprivation, and frigid temperatures (well relative to the 3 threedigit temperatures we've experienced all summer in the central US) while attending the ninth International Conference on Ribosome Synthesis in the Canadian Rockies. This conference, held once every three years, brings together many of the world's foremost experts in the field of ribosome synthesis for a five day meeting to discuss the latest research in the ribosome synthesis field. The importance of this research to patients and families affected by DBA was evidenced by the fact that four independent DBA Foundations (DBA Canada, DBA France, DBA Italy, and the DBA Foundation USA) all saw fit to help sponsor this meeting. The hope that goes along with this support is that increasing awareness of DBA among these experts in ribosome synthesis may trigger a better understanding of the molecular basis of the disease and in doing so lead to improvements in patients care.
Increasing awareness of DBA among researchers doing very basic research on how ribosomes are made is easier said than done. Ribosome synthesis is a complex process that begins in a region of the nucleus called the nucleolus which is created by the action of RNA polymerases I as it synthesizes ribosomal RNA. While this RNA is being synthesized, ribosomal proteins begin to bind and assemble on the RNA and in doing so, create the large and small ribosomal subunits. Now you're probably thinking, well that's not so bad, but for the ribosomal RNAs and proteins to assemble correctly and for the maturing ribosomal subunits to be transported from the nucleolus to the cytoplasm where they function in protein synthesis an additional 2 to 300 proteins and RNAs are required. Each investigator has their own particular area of expertise in this horribly complex process, and very few are really capable of pulling it all together to understand the big picture; let alone how when this process goes awry it leads to a disease state like DBA.
In terms of ribosomes and disease, this year's meeting was a little different than past meetings........ well, actually very different. Rather than have the ribosomes and disease session on the last day of the meeting when participants are packing up, saying their goodbyes, and scrambling to catch flights, ribosomes and disease was a reoccurring theme throughout the meeting with the disease session given a prominent location right before the plenary talks, which are often the highlight of the meeting. Even more special this year, was the fact that one of these plenary talks was given by the one and only Dr. Jeffrey Lipton, who we all know and love. Now some of you might be thinking, what's so unusual here, we hear Dr. Lipton talk all the time at venues like Camp Sunshine, the American Society of Hematology meeting and DBA ICC Conference. But this was different. A clinician, albeit a physician scientist, talking for 50 minutes about a disease to 150 hard core ribosomologists on their turf, unheard of! This, however, was a carefully laid out strategy by the meeting organizers (which in the interest of full disclosure I should reveal that I was one of the organizers). The strategy was to have Dr. Lipton present an overview of Diamond Blackfan anemia focusing not so much on the basic science side of the disease but on the patients, the clinical manifestations of the disease, and what we know about the physiological processes affected by DBA. The goal was to have this presentation trigger something in one or more members of the audience that will lead to that key bit of information that opens the floodgates to our understanding of DBA pathophysiology and in doing so, lead to improved patient care.
The title of Dr. Lipton's talk was "The ribosomopathies: when bad ribosomes happen to good people." I must say that the term "bad ribosomes" caused quite an animated discussion around the fact that some felt it implied that ribosomes lacking proteins like Rps19 might be able to exist and somehow have aberrant or compromised function. Dr. Lipton calmed the debate by stating that he was using the term "bad" in a more inclusive way to include a reduction in the amount of ribosomes being made. You never know what's going to set off a firestorm in a room filled with internationally renowned experts in a field.
Despite the lively discussion surrounding the term "bad ribosomes" there was absolutely no one in the room who challenged the view that these "bad ribosomes" were happening to "good people" and so, I felt that all meeting participants accepted the charge to keep Diamond Blackfan anemia in mind as they pursue their own studies on different aspects of ribosome synthesis. Given the remarkable breadth, quality, and pace of research discoveries over the three years since the last meeting, I can't help but think that the key breakthrough that will lead to tangible improvements in DBA patient care is not that far down the road and could be a highlight of the next meeting in 2015.
Signing off from ribosome central,
Steven R Ellis