January Newsletter 2015

Happy New Year! Many people make resolutions for the new year, some hold and others fall by the wayside. I am determined to steadfastly hold my heading toward a healthier lifestyle and continuing the mission of SDSF. In December a group representing SDSF traveled to the ASH convention. We spoke with many physicians, and learned from other rare disease organizations how to improve awareness. I have a fundraising goal of $50,000 for SDSF this year, and know this is possible with the help of our friends and families. The new website committee is busy getting the best up to date information and designing a user friendly site. The fundraiser committee is eagerly waiting to help you with your fundraising efforts. And family support is always here to help. We are happy to introduce our new Board Members and announce the Medical and Scientific Advisory Board in this newsletter. Important registry information is also included. Please save this newsletter to keep for your future use.


Wishing you all a Happy New Year!


Christine James


ASH Update

An Update on Advances in Hematology

by Dr. Myers


This past December 2014, over 20,000 people from around the world attended the 56th annual meeting of the American Society of Hematology (ASH) in San Francisco to discuss the very latest in cutting edge research and patient care advances in hematology.   We are very proud that our own Dr. Akiko Shimamura was a liaison to the Program Committee and will be the Scientific Program Co-Chair at the next annual meeting in Orlando in 2015.  Similar to ongoing projects in the North American SDS Registry there were numerous groups presenting preliminary data using new DNA sequencing technologies to discover and investigate potential new genes that may lead to a variety of hematologic diseases.  One of the most puzzling issues in SDS is why some children progress to bone marrow failure or leukemia and others remain with relatively stable counts, despite having similar mutations in SBDS.  New work in the laboratory of Dr. Margaret A. Goodell looked at other genes that control bone marrow stem cells, including one called DNMT3A, an important enzyme in DNA methylation or modification.  Mice with mutations in this gene develop bone marrow disease including myelodysplasia and leukemia.  Several studies identified genetic mutations acquired over time in patients with marrow failure.  The clinical implications of such mutations remain to be addressed.  Future studies to try to better understand these important processes may be important for understanding marrow disease in SDS as well.

ASH exhibit summary
by C. James


SDSF was represented at the ASH convention by; Christine James, Paul Taylor, Maura Donahue, Erika Rieger, and Lee Kimmell. During the exhibit hours doctors, researchers, and students stopped by our booth and discussed SDS. Some have never heard of it and were eager to learn. This year information distributed was available in both English and Spanish, along with pens, grant applications, consensus statements, foundation pamphlets, and registry brochures. We were very happy to have it in Spanish for the first time. A video of SDS families, filmed and produced by Ed Bickel, who were interviewed this summer at camp, played on a laptop for all to see. We feel this video brought a face and feelings to the disease. Overall attending ASH was a great success. Family volunteers saw the importance of attending and spreading awareness, and met many of the leading SDS doctors. Continued support is needed to return to ASH to educate the medical community and spread awareness of Shwachman-Diamond Syndrome.

Introducing the
Medical & Scientific Advisory Board


SDSF would like to introduce our Medical and Scientific Advisory Board. We welcome our new members and gratefully thank our senior members for your continued support in SDSF and our families.




Johanna Rommens, PhD

Program in Genetics & Genome Biology

Peter Gilgan Centre for Research & Learning, Room 14-9712

The Hospital for Sick Children

686 Bay Street

Toronto, ON

M5G 0A4




Blanche Alter, MD, MPH, FAAP                                                 

Clinical Genetics Branch

Division of Cancer Epidemiology and Genetics        

National Cancer Institute                                      

9609 Medical Center Drive

Room 6E452, MSC9772

Rockville, MD  20850


Katherine Baum, PhD

Assistant Professor of Pediatrics

Pediatric Neuropsychologist

Cancer and Blood Diseases Institute

Division of Behavioral Medicine and Clinical Psychology

Cincinnati Children's Hospital Medical Center

3333 Burnet Avenue

MLC 3015

Cincinnati, OH  45229-3039



Monica Bessler, MD, PhD - Director                                                         

Pediatric and Adult Comprehensive Bone Marrow Failure Center

Children's Hospital of Philadelphia

3615 Civic Center Boulevard, ARC 302

Philadelphia, PA  19104

[email protected]



Lauri Burroughs, MD

Director - Pediatric Non-Malignant Transplant Program

Fred Hutchinson Cancer Center/ Seattle Children's Hospital

1100 Fairview Avenue East, MS D5-280

Seattle, WA  98109



Dr. Marco Cipolli

Centro Fibrosi Cistica

Azienda Ospedaliera Universitaria Integrata

Piazzale Stefani 1, 37126

Verona, ITALY



M. Tarek Elghetany, MD

Professor of Pathology & Immunology and Pediatrics

Baylor College of Medicine / Texas Children's Hospital

6621 Fannin Street, WB1100

Houston, TX  77030

[email protected]

[email protected]



Peter Kannu, MB,ChB (Otago), PhD, DCH, FRACP

Staff Physician, Division of Clinical and Metabolic Genetics

Team Investigator, Research Institute

The Hospital for Sick Children

Assistant Professor, Department of Paediatrics

The University of Toronto

Toronto, ON

M5G 1X8




Johnson M Liu, MD FACP

Les Nelkin Professor of Pediatric Oncology at The Feinstein Institute for Medical Research

Hofstra North Shore - LIJ School of Medicine

Cohen Children's Medical Center of NY

269-01 76th, room 255

New Hyde Park, NY 11040


Attending Physician

Monter Cancer Center

450 Lakeville Road

Lake Success, NY 11042

[email protected]



Kasiani  Myers, MD

Assistant Professor of Pediatrics

Division of Blood and Marrow Transplantation and Immune Deficiency

The Cancer and Blood Diseases Institute

Cincinnati Children's Hospital Medical Center

 3333 Burnet Avenue

Cincinnati, OH 45229-3039

[email protected]



Akiko Shimamura, MD, PhD                   

Associate Professor of Pediatrics

Fred Hutchinson Cancer Research Center

1100 Fairview Avenue N, D2-100

Seattle, WA 98109

[email protected]



Bone Marrow Failure Centers

Comprehensive Bone Marrow Failure Center
Children's Hospital of Philadelphia
3615 Civic Center Boulevard, ARC 302
Philadelphia, PA 19104

Monica Bessler, MD, PhD - Director
Millicent Murray - Resource Coordinator
Phone: 267-426-9889
Fax: 267-426-9892

Seattle Children's Hospital
4800 Sand Point Way NE, MB.8.501
Seattle WA 98105
Akiko Shimamura, MD, PhD
Kathleen McGregor - Nurse Codrdinator
Phone: 206-987-7021
Fax: 206-987-3046

The Cancer and Blood Diseases Institute

Cincinnati Children's Hospital Medical Center

3333 Burnet Avenue

Cincinnati, OH 45229-3039


Kasiani Myers, MD

Leann Mount - Nurse Coordinator

Phone: 513-636-3570

[email protected]



SDS Registry


Since SDS is a rare disorder, our understanding of the medical complications and best treatments for SDS are limited. For this reason, the SDSR was established to collect medical information and clinical samples on all individuals with SDS, with the goal of improving diagnosis and treatment. The SDSR is headquartered at the Fred Hutchinson Cancer Research Center in Seattle with a collaborating center at Cincinnati Children's Hospital Medical Center. The SDSR is a research organization dedicated to gathering and analyzing information about SDS and sharing any new knowledge with the SDS community and medical professionals. Scientific studies using collected blood and bone marrow cells will focus on elucidating the causes of SDS and its complications in order to develop better treatments.




The North American Shwachman-Diamond Syndrome Registry is a unique resource promoting science and discovery to improve the diagnosis and treatment of children and adults with Shwachman-Diamond Syndrome.




Akiko Shimamura, MD, PhD (Director)

Fred Hutchinson Cancer Research Center

Seattle Children's Hospital


David Dale, MD

University of Washington


Kasiani Myers, MD

Cincinnati Children's Hospital Medical Center


Richard Harris, MD

Cincinnati Children's Hospital Medical Center


Stella Davies, MBBS, PhD

Cincinnati Children's Hospital Medical Center





Audrey Anna Bolyard, RN, BS

[email protected]

toll free: 1-800-726-4463


Joan Moore, CCRP

[email protected]

toll free: 1-800-344-2462


For additional information please visit the SDSR website: www.SDSRegistry.org

National Cancer Institute

Clinical Genetics Branch

Division of Cancer Epidemiology and Genetics


Inherited Bone marrow Failure Syndromes


Studying Families with Rare blood disorders and Risk of Cancer



The National Cancer Institute (NCI) is sponsoring the largest North American Study of its kind to focus on people with rare inherited bone marrow failure syndromes (IBMFS) and their immediate family members. This large group, or cohort, is called the NCI IBMFS Cohort. The study's purpose is to:


*Examine the underlying genetic disorders of those diagnosed with an IBMFS and their families


*Analyze how certain factors can affect the course of these syndromes, particularly the connection between these disorders and cancer


*Follow families over a period of years





Blanche P. Alter, MD, MPH, lead investigator

Sharon A Savage, MD, Co-Investigator

Neelam Giri, MD, Associate Investigator




Toll free: 1-800-518-8474 ask for the referral nurse

International: 301-212-5250

Email: [email protected]


Website: www.marrowfailure.cancer.gov 


Family Fundraiser

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!  

Board Member Introductions
SDSF welcomes our newest board members!
Christian Del Re

I was elected to the SDSF Board in October 2014, as the Communications Chairperson.   I am a social studies teacher in Br ooklyn, NY.  My wife, two sons, and I live in Staten Island New York.  Anthony, our two year old, was diagnosed with SDS at eight months o ld, and Nicholas, our five year old, is healthy, but also a carrier for SDS.  At my first trip to Camp Sunshine this past summer, I was inspired by the work of the SDSF.  This was the first time my family had met anyone who was going through the same situation as us, living with SDS.  I plan to use my expertise and skills to help the Board advance its mission to Support, Research, and Cure  SDS.   Email me at [email protected]
Jenni Wachter

Hi, I'm Jenni Wachter and I'm one of the newest board members of the Shwachman Diamond Syndrome Foundation. 

My husband, Adam, and I enjoy our Midwestern life in Jackson, Missouri. I stay at home to raise and care for our amazing kiddos. Our son, Wade, is 4 years old and he was diagnosed with SDS at 8 months old. Our daughter, Calli, is 2 years old and lives without SDS. We enjoy playing outside, attending sporting events and rodeos, and making family memories.

As a previous business/technology teacher, I plan on using my skills to redesign and maintain the SDSF website, which is a powerful tool to raise awareness for SDS and SDSF. I also plan on working with the board to host and support various fundraiser events as a way to fund a cure for SDS.  I look forward to serving on the board in an effort to support, research, and cure Shwachman-Diamond Syndrome. 

Email me at [email protected]


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.
Audrey Anna Bolyard, RN, BS
SDS Registry at the Fred Hutchinson Cancer Research Center
Main: 206-543-9749
Toll-free: 800-726-4463 
Joan Moore
SDS Registry at Cincinnati Children's Hospital
Phone: 513.636.8316
Fax: 206.543.3668
[email protected]

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 Chair, 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, S
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 assocaites 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 flashdrives 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 www.recyclingfundraiser.com. 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
Do you shop on Amazon.com?  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 Shwachman-Diamond Syndrome Foundation

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 Thrivent.com/thriventchoice 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.  https://www.bravelets.com/bravepage/shwachman-diamond-syndrome-foundation

Thank You For Your Donations
( October 1, 2014 - January 23, 2015)
Rose & Frank Canonico
Nicole Carpiniello
Deana Valiante
Steven Kilcrease
John Miller
Melissa Richards
Joseph Tersigni
Christopher Wood
Stephanie & Wendell Stephenson
Jeffrey Kohn
Maria Hall
Ronald Buell
Harry Walters
  Q3 Contracting
Wyndham Worldwide  
United Way of Greater Niagara
Amazon Smile Program
In Honor of Michelle Mowery - The Mowery Family
In Honor of The Mowery Family - Benjamin Hardy
In Honor of Roin Porrata - Anthony Porrata, Carmen Porrata
In Honor of Wade Watcher - Jennifer Watcher
In Honor of Gavin Frew - Erica Frew, James & Luzvilla Dresbach, Samuel & Lynn Warbel, V. Michael & Toni Makino, James Hostacky, Richard & Marilynn Shymanovitz, Kevin & Cynthia Bruin, Broad Family Chiropractic
In Honor of Collin Brown - Morris & Judy Salter
In Honor of Anthony Del Re - Christian & Gina Del Re, Peter DiMartino, Ronald & Lorraine Siegel, Linda Johnson & Ralph Harucki, Vincent & Madeline Venditti, Dolores & Wilson DeChiara, Irene Tragares, George & Joan Perretti, Yekaterina Lukyanovskaya, Margaret Lynn, Edward & Jean Fogarty, Joseph & Rose Brocco, Donna & Frank Petrosino, Michael & Michelle Hyland, Daniel & Barbara Cardone, Walter Ruiter, William & Shirley Wissemann,
In Honor of Marissa Avroch - Dianne Moschetta, Marie Dininni-Avroch, Jennifer Avroch
  In Honor of Jessica Bodron - Joni Bodron, Gregory & Tammy Broussard
In Honor of Scott, Jonathan & Megan Miller - William & Ann MackeCarol Reed
In Honor of Troy & Kelsey DeBoer - Fidelity Charitable Gift Fund
In Honor of Emma Taylor - Paul Taylor
In Honor of Emily & Kelsey Jeuwine - Center Lines Lions Club, Jenuwine Foundation
In Honor of The Turkaly Family - Valerie Joseph
In Honor of Sarah Kilby - Millie Cassidy
In Honor of Kaitlyn Bright - Alan Detwiler, Noson & Michele Fontenot
In Honor of Bodie James - Watson Family & James Family
In Honor of Gracie Van Brunt - Gracie Fund
In Memory of Alexis Layton McFarland - Donna Evan
In Memory of Heather Quintral - Donald & Anne Bentley
In Memory of Melanie Huh Smailus - Wanda Huh, Charles & Margaret Smith  
Wall Writing Campaign
In Honor of Joe & Jonathan Wall
Joyce Wall, Stephen & Rita Prevost, Laura Catlin, Amy & Sean Flynn, Gloria Banyacski & Audrey O'Keefe, Timothy & Deborah Regan, Karen & Karnig Durgarian, Daniel & Martha Webb, Alison & Scott Cummings, Mark & Colleen DeBiase, Christopher Plunkett, Oscar & Nicole Yeh, George & Maureen King, Kevin & Janice Roden, David & MaryLee Watkins, Laura Kelly, Cathy Fish, Michael Truesdale, Ralph & Bonnie Souppa, Timothy & Mary Ellen Kirwan, Judith Doucette, TobinConnex, Joseph & Mary LeBlanc, Anne & John Wall, Kevin & Mary Wall, Mildred Beeler, Nancy Zagdan-Gross, David Rossi, The 1911 Trust Company
Welcome New SDS Families
San Antonio, TX
Davenport, FL
Farmland, IN
Brandywine, MD
Nesbit, MS
Saginaw, TX
Delanco, NJ
Mt. Orab, OH
Santa Clara, CA
Grand Blanc, MI
Claremont, NH
Cobleskill, NY
Albuquerque, NM
Inglewood, CA
East Patchoque, NY
Oange, Australia 
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 DelR�, Communications Chair
Stephanie Gregoretti, Family Support
Paul Taylor, Board Member
Jenni Wachter, 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