Autumn Newsletter 2015

Autumn is a time of transition.  The leaves change color and fall, leaving roads covered and trees bare.  Daylight savings time has come to an end, with the nights getting longer and the days shorter.  A quiet summer within the foundation changes into an exciting and busy time of the year.  SDSF welcomed a new Board member in September.  Nicole Shen has a one year old son with SDS.  Her enthusiasm and ambition will be an asset to the Foundation.   

October was an exciting month.  Three checks were written for research grants.  One for research continuing a second year with Dr. Johnson Liu of North Shore-LIJ Health System and The Feinstein Institution for Medical Research.  And, two new grants with a start date of November 1.  Dr. Seth Corey of Children's Hospital of Richmond, and the VCU Massey Cancer Center, and Dr. Allison Bertuch of Texas Children's Hospital, and Baylor College of Medicine, are both being supported by a donation made by the Shwachman-Diamond Project, in honor of Michelle Ellebracht-Mowery.  I am looking forward to reading their progress throughout the year.  

To continue supporting research we need your help. Fundraising is not the only way you can raise money for SDSF.  When shopping on Amazon, consider switching to AmazonSmile and pick SDSF as your charity of choice.  It is free to you and donation for SDSF.   Companies big and small match gifts.  Most matching fund programs are not only generous about giving money, but are willing to give to a wide variety of organizations.  Check with your company about their charitable gift matching program and help the continued funding of SDS research.  

The ASH convention is quickly approaching.  This year it is being held in Orlando, FL, December 4-7.  The convention center is large enough for the non-profit exhibitors to have a normal size booth compared to last year's tiny booths in San Francisco.  To prepare for ASH, 3  new banners were purchased,  designed by Jenni Wachter,    They were designed to use individually or together.  I am proud to showcase the banners and spread awareness of SDS at ASH and any function we attend.  

The next few months are hectic and full of holidays and family gatherings.  During this time I ask for you to take a moment and think of SDSF.  Where would you be without this foundation, family conferences, and the educational and emotional family support?
Christine James

SDSF Research Projects
  This past September, SDSF voted to fund 2 research projects so that we can help find a cure for SDS.  The Board voted unanimously to support the following doctors and their projects.  Below are summaries of the initiatives being explored in the effort to better understand SDS, its causes, impacts on the body, and potentially how to cure this life threatening disease. 

 In order to keep funding this necessary research, we need your support!  Please donate to SDSF through our website, and when you shop this Holiday Season, use AmazonSmile.  

Proposal: Why are Shwachman Diamond Syndrome Cells Hypersensitive to 
Alison Bertuch, MD, PhD
Texas Children's Hospital
Baylor College of Medicine
Individuals with Shwachman-Diamond syndrome ( SDS) carry genetic changes that result in their cells being deficient in a protein known as SBDS. SBDS is important for the formation of ribosomes, which are the protein factories in cells. While SDS is known to be a ribosomopathy (a disease of ribosomes), the reason why individuals with SDS develop neutropenia or progress to having bone marrow failure, myelodysplastic syndrome, or leukemia is not well understood. We obtained evidence in the laboratory that suggests SBDS may influence how damaged DNA is repaired in cells. Specifically, we found that cell lines derived from individuals with SDS are quite sensitive to radiation, which is known to cause DNA damage. Because unrepaired or excessively damaged DNA may to lead to bone marrow failure, myelodysplastic syndrome, or leukemia, we think our initial observations may be important. With the funds provided by the Shwachman-Diamond Syndrome Foundation, we will carry out a series of experiments to examine this further. First, we will determine whether radiation sensitivity is observed in other types of SDS cells, not just the cell lines derived from blood that we have tested so far, and whether restoring the SBDS protein in SDS cells allows them to tolerate radiation exposure to the extent that normal cells do. We will determine whether cells from patients with Diamond-Blackfan anemia, another ribosomopathy, are similarly hypersensitive to radiation, which will help us to understand whether the radiation sensitivity we observe in SDS cells is a general consequence of defective ribosomes or is specific to the lack of SBDS.  Finally, we will investigate which of the several known pathways of DNA repair is defective in SDS cells and why. It is our hope that our research will provide new and important insights into SDS, which may ultimately influence approaches to conquering the disease. 

Identification of Cooperating Genes in the Transformation of SDS to MDS/AML in a Zebrafish Model that Phenocopies Human Shwachman-Diamond Syndrome.
Seth Corey, MD, MPH
Children's Hospital of Richmond
VCU Massey Cancer Center
Advances have been too few in our understanding how Shwachman-Diamond Syndrome develops, how to design more effective therapies, or how to prevent its life-threatening complications like leukemia.  Researchers can turn to model organisms, but the mouse model is complicated by early death of affected embryos and the alternative strategy of a conditional mutant is quite cumbersome, expensive, and time-consuming. The zebrafish offers a unique opportunity because their genes closely resembles ours, they develop in only four days, they are considerably cheaper to maintain, and they can lay hundreds of eggs making analysis more powerful. In the case of Shwachman-Bodian-Diamond Syndrome (SBDS) protein, the human and zebrafish proteins are more than 90% identical.  Using a very recently developed technique to edit genes, we have created the first zebrafish model for Shwachman-Diamond Syndrome. Zebrafish embryos fail to produce SBDS protein, but they are viable.  The affected fish are markedly smaller than their normal counterparts. They are neutropenic (decreased number of granulocytes). Their bony development appears impaired, and they do not grow well. However, they do not survive past six weeks of age (fish live for one year). With your support, we propose to introduce the precise human disease-causing mutations and observe for a more mild disorder and longer lifespan.  Then, we plan to screen for genes that will cooperate with the mutant SBDS gene to cause leukemia. More than one bad gene is needed to cause leukemia. One clinical impact of our research would be to develop a screening tool to identify who would or would not be at risk for leukemia. 
Update from Dr. Johnson M. Liu, PI
As you may be aware, SDSF funded Dr. Liu's research in the amount of $35,000, last year.  He has submitted a progress update of his study and we will fund him for another year.

Excerpt from Dr. Liu's Progress Report:

"In this proposal, we hypothesized that the SDS hematopoietic defect is proportionally correlated with the levels of SBDS gene expression, and our specific aims are: (1) Determine the quantitative correlation between SBDS gene expression levels and the SDS hematopoietic defects; (2) Test efficacy of ectopic expression of wild-type SBDS on  in vivo correction of the SDS hematopoietic defect. The objective of this project is to determine if there is a quantitative correlation between the expression level of SBDS and the hematopoietic defects. Due to bone marrow failure in SDS, we anticipated difficulties in obtaining sufficient numbers of hematopoietic cells for comprehensive analyses . . . . Sensitive and accurate quantification of SBDS in hematopoietic cells is critical to our project's success. During the 1st year of funding, we have made significant progress in addressing this critical issue, specifically establishing protocols allowing for precise and sensitive measurement of expression levels of SBDS mRNA and protein in individual, phenotypically defined hematopoietic cells, e.g. hematopoietic stem cells, multi-potent progenitor cells and committed progenitor cells. We also established a quantitive RT-PCR protocol allowing us to detect SBDS mRNA in very small amounts of total cellular RNA and at extremely low concentrations . . . "

Recent Research Articles
If you haven't checked out the newest medical articles regarding Shwachman-Diamond Syndrome published in 2015, we encourage you to do so!  We added 21 new articles to our " Research Articles " page. To date, we now have a total of 383 research articles written about Shwachman-Diamond Syndrome (dating all the way back to 1971). That number is remarkable and we are very grateful for our wonderful doctors and researchers!  The link to the page is:
SDS Registry Update
The SDS Registry headquarters will be transitioning from Seattle to Boston.  Dr. Shimamura will remain the Registry Director in Boston and continue to work closely with Dr. Myers and Dr. Davies in Cincinnati.  All studies are continuing and the Registry remains open for enrollment. 
During this period of transition, anyone interested in enrolling in the Registry or submitting clinical records should contact:
Sara Loveless (513) 803-7656

For sample shipments, please contact Dr.Shimamura:

Board Member Introductions
SDSF welcomes our newest board members!
Nicole Shen

Hi. My name is Nicole Shen and I was asked to become a board member for the Shwachman-Diamond Syndrome Foundation in September 2015.  I live in Houston, Texas with my husband and 1 year old baby, Roman.  I have a Bachelors Degree in Psychology and Sociology and a Masters in Industrial/Organizational Psychology.  I have worked in Human Resources for 13 years and look forward to applying these skills to the organization.  Since I just joined the board, my area of focus is to be determined. My son, Roman, was genetically confirmed with SDS at 6 months of age.  We are fortunate that we live in a medically driven city where he received a fairly quick diagnosis.  I know this is not always the case for all families.  SDSF has provided an abundance of resources for my family.  I no longer feel alone.  I no longer feel confused.  I feel empowered to help as many other families as I can.  I know together we can keep moving closer to a cure.  It is a true honor to work with such a passionate group. 

Team Wade's World Supports SDSF At The "BE THE MATCH" WALK+RUN In  St. Louis, Missouri

Wades World Walk & Run 2015
On October 3, the " Wade's World" team supported Wade (a four year old SDS patient) and the Shwachman-Diamond Syndrome Foundation at the annual Be the Match Walk+Run in 
St. Louis, Missouri. The family and friends of Wade either ran the 4 mile or walked ½ mile around Creve Coeur Memorial Lake. Joan Mowery, founder of SDSF, was also present at the Walk+Run event to cheer on Team Wade's World, and to set up a table to showcase the Shwachman-Diamond Syndrome Foundation within the exhibitor booths. Prior to the race, the team sold Wade's World t-shirts and collected donations to raise more than $2,300 to be donated to SDSF. Way to go Wade's World!!


Here are ways we can help make your fundraiser a success:  


  • Provide you with bracelets and pens with our logo for giveaways
  • Help promote your fundraiser using social media and email campaigns
  • Provide brochures and information about SDS and SDSF
  • Use of our banner
  • Reimbursement for costs when providing receipts
  • Provide 1 on 1 support to make your fundraiser a great success
Contact us at [email protected] to start your fundraiser today!  
Help Support SDSF!
Shop using AmazonSmile this holiday season.  It is free for you, and .05% of your purchase goes directly to SDSF. We need all your support in helping to fund research and find a cure!
In This Issue
Important Links:

Medical Scientific Advisory Board

Regional Parent Contacts
Take a look to see who might be in your area and give a ring, get together, call for advice!

If you are already registered, please remember to send in annual updated medical records and fill out the annual questionnaire obtained from the Registry.

Akiko Shimamura, MD, PhD
David Dale, MD
Kasiani Myers, MD
Richard Harris, MD
Stella Davies, MBBS, PhD

Registry Contacts
Call or email to join registry, ask questions and discuss registry issues.
Sara Loveless
SDS Registry at Cincinnati Children's Hospital
Phone: 513.803.7656

Sample shipments contact
Akiko Shimamura at:

Johanna Rommens, PhD
Monica Bessler MD PhD
Jeffrey Lipton MD

Dan Link MD
Soheil Meshinchi MD
Kathy Sakamoto MD
Sam Kocoshis MD

(appointed by the SDS Registry Advisory Committee)-email these reps with any questions or comments you may have to relay to the Registry

Matt Palmer PhD
Former member of the SDSF Board of Directors
[email protected]

Communicate with Other Families
Or for more public sharing with your friends and families of your SDS experience, like our official Facebook page! Feel free to upload pictures of your kids, families, stories, videos, anything!!

Ongoing Fun Fundraising Ideas
SDSF would like to encourage everyone to raise funds to support research and the Foundation. We have had families raise money through letter writing campaigns, school dances, corporate matching gifts through their employers, golf tournaments, physical competition events, Super Bowl parties and more.
For help in planning your next fundraiser contact our Fundraiser Advisor, Ed Turkaly.

Here are a few examples:
Rubber Bracelets
We have NEW SDSF rubber bracelets. These are a perfect conversation starter about SDS. We would like everyone to have them and wear them. We would also like to suggest that you either give or sell them to everyone you know. Or give them to your family and friends and ask that they make a donation to SDSF. Or if you prefer, you make the donation and give them as gifts. Contact us at [email protected] to order them.  

T-Shirts T-Shirts
SDSF T-Shirts are available  Show your support for SDSF and SDS by ordering one today!
$15 adult  $12 children
Sizes Available:
Adult XXXL, XXL, XL, L, M 
Children's XS, S, M, L

Shipping $5 for 1 to 3 shirts.
Contact us at [email protected]  to order them.  Payments can be made through our donate button and specify number, sizes and address to be mailed in the notes section.

Letter Writing Campaign
Perhaps the easiest of all! Go to our website to see sample letters. You can mail/email to family/friends, business associates and include our Donate page link in the email for fast and easy giving.

Flash Drive Fundraiser
In her own effort to increase awareness of Shwachman Diamond Syndrome and to fund ongoing research and family support, Donna Garfield, is conducting a flash drive fundraiser. All funds raised will be donated to the Shwachman Diamond Syndrome foundation. The flash drives sell for $15.00 and are 2GB, the perfect size to hold family medical records, or schoolwork for your budding scholar. Order one for yourself, or many to resell!

To place an order simply send SDSF an email, [email protected], letting us know how many flash drives you would like. Payment can be made through our donate button on the SDSF website.

You can also send a check to:
P.O. Box 40
Avon, NY 14414

Recycle Old Cellphones
How many old cellphones are lying around your house and your family, co-workers and friends' houses? We have a way that you can help the ecosystem and help SDSF at the same time. And we can all do it. It's an easy way that everyone can help raise money to support research and all of the other work SDSF does.....recycle cellphones. SDSF has been registered with Start a recycling campaign by contacting family, co-workers and friends. When you have collected the cellphones go to this company's website. They will give you instructions on how to download and print a FREE shipping label.

To make sure SDSF gets a check for your shipment, please put the SDSF return address on the shipping label.
Shwachman-Diamond Syndrome Foundation
P.O. Box 40
Avon, NY 14414
This is easy-has no cost to you--and most importantly will help SDSF continue it's work to help our kids.
Please contact Joan Mowery with questions.

On-line shopping - AmazonSmile
Do you shop on  You can support SDSF by shopping at AmazonSmile.  Amazon donates 0.5% of the price of your eligible purchases to the charitable organization of your choice.  AmazonSmile is the same amazon you know.  Same products, same prices, same service.  Support SDSF by shopping at AmazonSmile.

Matching Grant Program
Does your employer have a matching grant program? Ask them to include SDSF in their Giving Program. You can also inquire if they will match your donation.  SDSF is in the Morgan Stanley Employee Giving Program database.

Thrivent Choice Dollars®directions can help SDSF
Are you a member of Thrivent Financial who's eligible to direct Choice Dollars ® ?
Choice Dollars charitable grant funds can make a world of difference to SDSF as we work together to support and educate families about SDS. By directing Choice Dollars, eligible Thrivent members recommend where they feel Thrivent should distribute a portion of its charitable grant funds. Directing Choice Dollars is easy. Simply go to to learn more and find program terms and conditions. Or call 800-847-4836 and say "Thrivent Choice" after the prompt.
If you have any questions and would like to contact the representative from SDSF about Thrivent contact Jenni Wachter at [email protected].

Do you know someone that needs some encouragement?  Give them a gift that gives back.  With each purchase of a Bravelet $10 will be donated to SDSF.  These bracelets' and necklaces' mission is to help people to BE BRAVE.  Consider purchasing a Bravelet and help SDSF and a special someone.

Our Caps, Your Cause
Prairie Farms Milk's program called, "Our Caps, Your Cause," can help raise money for SDSF! For each code redeemed, Prairie Farms will donate $0.05 to SDSF!
Ask your friends, family, coworkers, and anyone you know to COLLECT CAPS!! Or, you can ask friends and family to take a picture of the code and email/text it to you!! All you have to do is redeem milk cap codes on the following site and choose our organization from the drop-down list!

Thank You For Your Donations
(August 8, 2015 - October 31, 2015)
Nicole Carpiniello
Deana & Jeff Valiante
Steven Kilcrease
Anthony Porrata
In Honor of Wade Watcher - Jennifer Watcher
In Honor of Marissa Avroch - Dianne Moschetta
In Honor of Anthony Gregoretti - Jeffrey Schwarta, DDS, Christine Murphy
In Honor of Collin Brown - Richmond Rotary Club
In Honor of Troy & Kelsey DeBoer - Jacob & Lois DeBoer
In Honor of Emily & Kelsey Jenuwine - Diana Murphy
5th Annual Tough Mudder - In Honor of Sarah Kilby - Lane Pollack
In Honor of Roman Shen - Ray Whaley, Sara Elkins, Susan Cox, Sallie Bradshaw,
Katie Mahoney, Gianluca Callini, Paige Marquez
Wade's World Fundraiser - In Honor of Wade Watcher
Rob Lorey, Brian Bruns, Daniel Taylor, Sharon Walker, Mary Moll, Terry Duvall, Debbie Weinacht,
Karen Soscia, Patricia Brown, David Monier, Jill Barber, Kristen Renner, Laura Newberry,
 Kelly Garza, Mary Paulus Schremp, Dawn Graustein, Diane Meyer,
Lloyd & Joyce Hutson 
In Loving Memory of Michele Ellebracht Mowery
James & Eileen Dwyer
Joan & Greg Mowery  
Welcome New SDS Families
Forest Park, IL
Cedar Grove, NC
Grimsby, Ontario, Canada
Bordertown, South Australia
Austin, TX
Mansfield, Nottinghanshire, England
San Antonio, TX
Staten Island, NY
Castleton, NY
Harrisburg, PA
Lowell, MA  
Shwachman-Diamond Syndrome Foundation
FOUNDER: Joan Mowery 1994


Christine James, President
Joan Mowery, Vice-President
Pamela Miller, Secretary
Bryan Sample, Treasurer
Ed Bickel, Creative Media Chair
Christian Del Ré, Communications Chair
Stephanie Gregoretti, Family Support
Jenni Wachter, Webmaster
Nicole Shen, Board Member

Other Amazing Leaders

Joyce Wall - Anna Angel Basket Coordinator
Maura Donahue - Advisor to the Board
Ed Turkaly - Advisor to the Board
Kim McDowell - Administrative Assistant and Bookkeeper

ATTORNEY: Ann Bodewes Stephens, Herzog Crebs