June Newsletter 2014

Hello! This has been a very busy beginning to my term as President. And I am happy to say how well things are moving along. Our board is enthusiastic and eager to work on new projects.


First, a quick note about myself. I am the mother of a 9 year old SDS patient who received a successful BMT 3 � years ago. He was diagnosed at 13 months at a military treatment facility.  I am a Navy wife and volunteer with the boy scouts and at school. I am looking forward to volunteering with SDSF and making a difference with families, the community and medical fields. Feel free to contact me at christine@shwachman-diamond.org.


Plans for this summer's family conference at Camp Sunshine are almost complete. We think it will be our best year yet! Our fundraising chair, Ed Turkaly, is working with a family in NC on a golfing fundraiser. And an exciting media production project is in the works, with Ed Bickel our Creative Media Chair,


SDSF is excited to have received letters of intent for research studies and have been reviewed. Successful applicants have been asked to submit full proposals to be vetted by our Medical Advisory Board. We hope to be able to make an announcement regarding this in the near future.


Have a fun and safe summer!


Christine James, President




Family Conference 2014
What to expect at Camp Sunshine


The date for SDS week at Camp Sunshine this summer is July 13-18th. Are you joining us? Is this your first time attending? Here is what to expect during your stay.


Camp Sunshine hosts 40 families in suite style rooms which can sleep 6. All units have a full bath, a small refrigerator, and microwave. There are also laundry facilities available, if the need arises. No TVs here! This is a time to step away from your chaotic life, relax and mingle. Make new friends, listen to the experts, learn from other parents' experiences and overall have a good time. Towels and linens are provided by SDSF.


Children are divided into age specific groups. And each group has a designated room with age appropriate toys and activities. Even the youngest of visitors is taken care of in a lovely nursery. Yes, they do change diapers! Volunteers, however, are not permitted to dispense medications. The children will be brought to you if it is time for them to get their medicine. There are more than enough volunteers to entertain and care for the children in a safe environment. The children have so much fun at Camp Sunshine that we have seen children not wanting to leave their volunteers for a meal with their parents, or leave Camp at the end of the week.


Adults and parents will participate in some ice breaking activities, attend medical specialist lead conferences, and discussion groups. There will also be time for one on one discussions with the doctors if you have any specific questions. The doctors do eat in the dining room with the families. Invite them to your table. Get to know the experts.


This year we are excited to have a large group of doctors volunteering their time to attend Camp:

Dr. Akiko Shimamura, Hematology, Seattle

Dr. Lauri Burroughs, BMT, Seattle

Dr. Matthew Giefer, GI, Seattle

Dr. Kasiani Myers, BMT, Cincinnati

Dr. Katherine Baum, Neuro-psych, Cincinnati

Dr. Johnson Liu, Hematology, New York

Dr. Monica Bessler, Hematology, Philadelphia

Dr. Peter Kannu, Bone & Dental, Toronto

Dr. Janet McGill, Endocrinology, St. Louis

Maura Donahue, School Psychologist, California

Nancy Cincotta, Psycho-Socialworker, Camp Sunshine


The staff at Camp Sunshine runs a tight ship. During the week many activities are planned; a masquerade dance, talent show, parent/adult gourmet dinner and karaoke, crafts, open pool time, and free time. If you have room, pack a small costume for your little one. If you don't Camp has a large costume closet. You are sure to find something in there. Does your child have a talent? A few families in the past have performed as a group. During free time take a walk to the lake and paddle boat or canoe. Or take in a game of mini-golf. There is plenty to do. Sorry, no swim diapers in the pool.


We are looking forward to meeting new families and reconnecting with returning friends. Safe travels!


See you at Camp Sunshine!

Medical Article
Hematopoietic Cell Transplantation Using a Reduced Toxicity Conditioning Regimen for the Treatment of Patients with Shwachman-Diamond Syndrome.

Fred hutchinson 

Drs. Lauri Burroughs and Akiko Shimamura, experts in the field of hematopoietic cell transplantation (HCT) and bone marrow failure, along with their colleagues at the Fred Hutchinson Cancer Research Center and Seattle Children's Hospital, are investigating a new HCT approach for the treatment of patients with Shwachman-Diamond syndrome. At the current time, successful cures for the bone marrow (hematopoietic) complications of Shwachman-Diamond syndrome have been attained only after HCT. However, patients with Shwachman-Diamond syndrome are more sensitive to the toxicities from standard bone marrow transplant regimens which can result in serious complications including organ damage. Outcomes between different reduced intensity conditioning regimens may vary. To address this serious problem, the doctors at Fred Hutchinson Cancer Research Center and Seattle Children's Hospital have developed a HCT procedure that uses a new combination of reduced intensity chemotherapy drugs, Treosulfan and Fludarabine, for patients with Shwachman-Diamond syndrome. Importantly, several studies in Europe have shown that similar conditioning regimens using Treosulfan dramatically reduce the risk for transplant related complications and therefore increase survival.


Dr. Burroughs and colleagues are conducting the first prospective clinical trial in the United States using treosulfan for HCT conditioning in patients with non-malignant diseases. To date over 50 patients have been received a transplant on this clinical trial of which 7 had underlying high-risk marrow failure disorders including 3 patients with Shwachman-Diamond syndrome. All seven patients with marrow failure disorders are alive and doing well including the 3 patients with Shwachman-Diamond syndrome who all have 100% donor engraftment and are cured of their underlying bone marrow (hematopoietic) complications. Importantly, this clinical trial uses all stem cell sources including bone marrow, peripheral blood, and cord blood thus allowing nearly all patients a chance at a potential cure.


Treosulfan has also been used in HCT for patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) and has been shown to have low toxicities and decreased transplant related mortality. Therefore, patients with Shwachman-Diamond syndrome who have developed MDS or AML are candidates for transplantation using Treosulfan-based conditioning.


The Seattle Cancer Care Alliance (SCCA) is a comprehensive medical center that unites the expertise of the Fred Hutchinson Cancer Research Center with two other internationally renowned institutions - Seattle Children's Hospital and the University of Washington Medical Center. The Fred Hutchinson Cancer Research center has a long history and commitment to advancing the field of hematopoietic cell transplantation and bone marrow failure. Patients receive state of the art multi-disciplinary medical care and are provided with excellence in nursing care, child life, pharmacy and psychosocial support which are all vital in the care of patients. No matter what treatment is given, every patient receives specialized attention and support to help them and their families through a difficult time. Our nurse coordinator, Kathleen McGregor, will work with your family to assist with travel and logistics including lodging, schooling, insurance issues, and family support.


Dr. Burroughs and Dr. Shimamura will be attending the Shwachman-Diamond syndrome family camp - Camp Sunshine this July 2014. If you have any questions regarding the clinical trial, transplantation, or Shwachman-Diamond syndrome please contact Dr. Lauri Burroughs at lburroug@fhcrc.org. or Dr. Akiko Shimamura at ashimamu@fhcrc.org.

Family Story
Speidel Family Experience
Xander Speidel 

Nearly two years ago, my husband, Nathan, and I were in a position no parent wants to find themselves in. We learned our two-year-old son, Alexander "Xander", who had been diagnosed with SDS at 8 months of age, needed a bone marrow transplant.


Because of the expertise at Seattle Children's Hospital, we opted for a transplant there rather than near our home in Kansas City. At the time, they were one of the few centers in the nation involved in the drug trial of the new chemo drug Treosulfan. When we weighed the risks and potential benefit of using Treo-which is overall less toxic to the body than its predecessor Busulfan-it was a no-brainer: we'd do the transplant 2,000 miles from home.


As a parent, I loved always feeling like I was a part of the team treating Xander. During his second hospitalization, the team pressed for me to allow them to place an NG-tube. While I recognized why they wanted to do it, I put my foot down: absolutely not. Xander had had a tube for seven months as a baby, and not only was it a road I didn't want to go down again, but it had made him a lazy eater for a time. When I laid out my reasoning, they quickly backed off, and I was grateful they respected my opinion as well as my knowledge of my son.


Although doing Xander's transplant half-a-continent away from my home was definitely not ideal, if I had it to do over again, I wouldn't hesitate to spend five-and-a-half months there again.

Family Fundraiser
"Caring for a child with a chronic illness is exhausting, overwhelming, and expensive. It is also rewarding. You view and live life in a whole new way. God gave us Chilton because he knew we could handle the challenges and take care of him. We have had wonderful family, friends, churches, teachers, and doctors help us along the way, and we want to pay it forward. It truly takes a village to raise a child. What great lessons we have learned from our rare child!"


- Rebecca & Duane Price

Greenville, NC


Will you be in the Greenville, NC area in July?  Please join the Price Family golf fundraiser:  Swinging for Shwachman Diamond.


Dinner and Silent Auction

Rock Springs Center

Sunday,  July 20, 2014


Guest Speaker : Dr. Monica Bessler

Director of the Comprehensive Bone Marrow Failure Center at the Children's Hospital of Philadelphia


Golf Tournament Hosted by:

Ironwood Golf & Country Club

Monday, July 21, 2014

Featuring: ECU Head Football Coach

Ruffin McNeill


To register visit  www.swingingforsds.com.
Board Member Introduction
Ed Bickel   
Creative Media Chair
Hello, My name Ed Bickel and I am happy to have been a Board Member of the Shwachman-Diamond Syndrome Foundation since 2010 as the Creative Media Chairman.
My wife Sarah and I live in the Shenandoah Valley of Virginia, and are parents of two fun-loving children. Our Daughter Quinn, who has SDS (8), and and our Son Ari (5).
Sarah is a High School Special Education Teacher, and I own a Video Production Company. With this combination, We would like to Help Educate, Provide Visualization, Enlighten, and continue to Nurture and Grow the Shwachman-Diamond Syndrome Community. I discovered the SDSF, This wonderful group of folks on our first trip to Camp Sunshine in 2008. They have been a Shoulder to Lean on, a Resource to Learn from, and a Place to both Love & be Loved.
We are continuing to get Shwachman-Diamond Syndrome on the map, Creating Awareness, Finding ways to Fund Research for the CURE, and Providing support to those families with new diagnosis, and continuing to help those who have joined with us in providing hope for a better tomorrow.
Quinn was diagnosed at 6 months of age, almost by accident, and since then we have developed a sense of vigor and persistence to find the best (knowledgeable) doctors, and coach our other doctors by explaining what SDS is . . . and to help guide them with what we have learned from our experiences, and from those who have gone before us.
Thank you for this opportunity to let me serve you.
Best Wishes,


In This Issue
Important Links:


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

Dr. Akiko Shimamura, Seattle
Dr. Stella Davies
Dr. Kasiani Myers
Dr. David Dale

Registry Contact
Joan Moore
Call or email her to join registry, ask questions and discuss registry issues.
Phone: 513.636.8316
Fax: 206.543.3668

SDS Registry at the Fred Hutchinson Cancer Research Center
Main: 206-543-9749
Toll-free: 800-726-4463

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

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 info@shwachman-diamond.org to order them.  
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, info@shwachman-diamond.org, 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 jenniwachter@hotmail.com.


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
(December 1, 2013 - June 26, 2014)
Christian Del Re
Melissa Richards
Natalee Tucker
Bettie Papajohn
Jeffrey Kohn
Maria Hall
United Way of Greater Niagara
EveryLife Foundation for Rare Diseases
Baker Central School District
Nicole Carpiniello
Steven Kilcrease
Mary & Richard Balint
Carlos Ramos
Rachel Emmendorfer
Dana McConnell
Rebecca Adams
Sherrie Speidel
Michael Holdman
In Honor of Sarah Kilby - Millie Cassiby  
In Honor of Collin Brown - Pat & Jim Murdock, Lesley & John Hicks, Morris & Judy Salter, Bradley & Karen Williams,
  In Honor of Troy & Kelsey DeBoer - Jacob & Lois DeBoer
  In Honor of Marissa Avroch - Anthony & Carol Canonico, Meg & Frank Canonico, Jennifer Avroch, Anne Carpiniello, Rose Canonico, Kay DiFalco
  In Honor of Jessica Bodron - Kerry Campbell, Precision IBC, Inc., Gregory & Tammy Broussard, Timothy & Jon Marie Bodron
  In Honor of Kyle, Gavin & Ian Frew - Erica Frew
  In Honor of Michelle Mowery - The Mowery Family
  In Honor of Brian Richards - Dolly Richards
  In Honor of Khale Hansen - Tanya Hansen
  In Honor of Nico Loaiza - Christina & Mark Kluiszo, Adrienna & Douglas Marceau
  In Honor of Emma Taylor - Paul Taylor
  In Honor of Wade Watcher - Jennifer Watcher, Valerie Petzoldt
  In Honor of Joe & Jonathan Wall - Joyce Wall
  In Honor of Gracie Van Brunt - Gracie Fund
In Memory of Oscar & Melanie Huh - Margaret Smith, The Mowery Family
  In Memory of Michael Wilson - James & Helen Leminez
  In Memory of Lukas Soloman Fletcher - Rebecca Stafford
Welcome New SDS Families
Conton, OH
Boone, NC
Spaulding, IL
Glen Bunnie, MD
Ottumwa, IA
Fialeah, FL
Yelm, WA
Miami, FL
Wheat Ridge, CO
Pocahontas, AR
Cartersville, GA
Melvin, MI
Montague, GA
Chenee, SC
Humble, TX
Veneta, OR
Harrisburg, VA
Richland, WI
Pomona, NY
Bolton, CT
Goose Creek, SC
Palapka, FL
Whiting, ME
Ennis, TX
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
Ed Turkaly, Fundraising Chair
Blair Van Brunt, Research & Drug Discovery Committee

Other Amazing Leaders
Joyce Wall - Anna Angel Basket Coordinator

Kim McDowell - Administrative Assistant

ATTORNEY: Ann Bodewes Stephens, Herzog Crebs
BOOKEEPER: Letitia Cote, Quickbooks Advanced Certified Proadvisor