|Happy Holidays to all of you! |
This past year, SDSF has hopefully kept you abreast of:
~the SDS Registry- an important component for future cures
~many family services -see web site
~what is happening in Washington and the NIH that affect us
~and connected to fellow SDSers.
We want to hear from you this coming year about what you are still looking for in terms of help from SDSF. SDSF wants to receive from you any financial support that you and your family/friends can give. We can't operate without the financial support as you know.
We created so much awareness of SDS through events like Rare Disease Day last February and through the 6th bi-annual SDS Scientific Congress held at the prestigious New York Academy of Sciences. I even poked my head outside of the SDS family and medical communities to attend 3 amazing, rare disease conferences - all in New York City - that have given me more knowledge about the rare disease community as a whole and some relationships that will hopefully blossom into pathways toward cure.
Our Fall Fundraiser is still going well. We have raised $12,300 so far!! YAY for this terrific SDS community! Keep fundraising- there is still time to win either the iPad2 or the digital camera! The deadline is December 31st to be eligible for the prizes.
Sending much love and peace out to our SDS community. Together we can create a community that helps each other through support of one another and through financial support of SDSF to guide us towards a cure.
With warm regards and peace,
Blair Van Brunt, President SDSF
Dr. Alan Warren, a member of our Medical Advisory Board participated in this breakthrough research that landed on the cover of the prestigious journal,
Oct 20, 2011.
Wong CC, Traynor D, Basse N, Kay RR, Warren AJ.
The picture at the right is a picture of an SDS cell. The article title is:
Defective ribosome assembly in Shwachman-Diamondsyndrome. Blood. 2011 Oct 20;118(16):4305-4312
Other research that has been published recently is listed here but can be seen with their links at this
1: Verbrugge J, Tulchinsky M. Lymphoma in a Case of Shwachman-Diamond Syndrome: PET/CT Findings. Clin Nucl Med. 2012 Jan;37(1):74-6. PubMed PMID: 22157033.
2: Jha AK, Bansal D, Sharda S, Ray P, Steele L, Varma N, Saxena AK, Marwaha RK. Shwachman-Diamond syndrome in India. Pediatr Blood Cancer. 2011 Oct 11. doi: 10.1002/pbc.23332. [Epub ahead of print] PubMed PMID: 21990229.
3: Sen S, Wang H, Nghiem CL, Zhou K, Yau J, Tailor CS, Irwin MS, Dror Y. The ribosome-related protein, SBDS, is critical for normal erythropoiesis. Blood. 2011 Dec 8;118(24):6407-17. Epub 2011 Sep 30. PubMed PMID: 21963601.
4: Siddiqui Z, Osayande AS. Selected disorders of malabsorption. Prim Care. 2011 Sep;38(3):395-414; vii. PubMed PMID: 21872088.
5: Orelio C, van der Sluis RM, Verkuijlen P, Nethe M, Hordijk PL, van den Berg TK, Kuijpers TW. Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. PLoS One. 2011;6(6):e20727. Epub
2011 Jun 13. PubMed PMID: 21695142; PubMed Central PMCID: PMC3113850.
6: Rochowski A, Sun C, Glogauer M, Alter BP. Neutrophil functions in patients with inherited bone marrow failure syndromes. Pediatr Blood Cancer. 2011Aug;57(2):306-9. doi: 10.1002/pbc.22885. Epub 2010 Nov 5. PubMed PMID: 21671367.
7: Yamaguchi M, Fujimura K, Kanegane H, Toga-Yamaguchi H, Chopra R, Okamura N.Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein. Int J Hematol. 2011 Jul;94(1):54-62. Epub 2011 Jun 10. PubMed PMID: 21660439.
8: Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. J Med Genet. 2011 Sep;48(9):618-28. Epub 2011 Jun 9. PubMed PMID: 21659346.
9: Gana S, Sainati L, Frau MR, Monciotti C, Poli F, Cannioto Z, Comelli M, Danesino C, Minelli A. Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? Exp Clin Endocrinol Diabetes. 2011
Nov;119 (10):610-2. Epub 2011 May 6. PubMed PMID: 21553366.
10: Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, Gonz�lez Fern�ndez A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellann�-Chantelot C,Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ. Uncoupling of GTP
hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011 May 1;25(9):917-29. PubMed PMID: 21536732; PubMed Central PMCID: PMC3084026.
11: Kopel L, Gutierrez PS, Lage SG. Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome. Cardiol Young. 2011 Oct;21(5):588-90. Epub 2011 Apr 13. PubMed PMID: 21486516.
12: Akdogan MF, Altay M, Denizli N, Gucun M, Tanrikulu S, Duranay M. A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis. Endocrine. 2011
Aug;40(1):146-7. PubMed PMID: 21448781.
13: Burwick N, Shimamura A, Liu JM. Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. Semin Hematol. 2011 Apr;48(2):136-43. Review. PubMed PMID: 21435510; PubMed Central PMCID: PMC3072806.
14: Leung R, Cuddy K, Wang Y, Rommens J, Glogauer M. Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis. Blood. 2011 Feb 10;117(6):2044-53. Epub 2010 Nov 17. PubMed PMID: 21084708.
FLU VACCINE info 2011-2012 Season
The viruses in this season's vaccine are the same viruses that were selected for the 2010-2011 influenza vaccine for the United States.It includes an influenza B virus, an influenza A (H1N1) virus and an influenza A (H3N2) virus. (These are the three virus subtypes that are circulating most commonly among people today.) More information about influenza vaccines is available at this CDC site
Use of the nasal spray seasonal flu vaccine
It has been advised to our SDS community to get shots only. The nasal spray is a live, attenuated virus and should only be given to healthy people between the ages of 2-49 years of age. One of our Medical Advisory Board members has recommended that no one in the household should get the live attenuated virus if someone who also resides in the household may be immunosuppressed. Please consult your doctor
Who should not be vaccinated
against seasonal flu?
Some people should not be vaccinated without first consulting a physician. They include:
- SDS Patients whose blood counts are very abnormal compared to their usual counts
- SDS patients who are on some sort of steroid
- People who have a severe allergy to chicken eggs.
- People who have had a severe reaction to an influenza vaccination in the past.
- Children younger than 6 months of age (influenza vaccine is not approved for use in this age group).
- People who have a moderate or severe illness with a fever should wait to get vaccinated until their symptoms lessen.
Many of our doctors and scientists from our Medical Advisory Board attended the Annual meeting of the American Society of Hematologists earlier this month and 4 of them presented either papers or posters on or about SDS. Congratulations go to these amazing doctors who are not only on our SDS team but are working hard to let the world know about SDS! Thanks go to:
Dr. Akiko Shimamura; Dr. Monica Bessler; Dr. Marco Cipolli; Dr. Tarek Elghetany and Dr. Blanche Alter.
To read more about each presentation or discover the ASH web site for yourself, please click here
SDSF Important Links:
Receive Hospital Care Basket (Angel Anna Basket)
DON"T FORGET TO REGISTER YOUR SDS PATIENT (YOURSELF IF THAT IS THE CASE) IN THE SDS REGISTRY. IT IS IMPERATIVE TO HAVE THIS DATA AND TISSUE ON HAND FOR ANY FUTURE CLINICAL TRIALS
SDS REGISTRY WEB SITE
Dr. Akiko Shimamura, Seattle
Research Nurse - Audrey Anna Bolyard-call or email her to join registry, ask questions and discuss registry issues. Phone: 206.543.9749
SDS Registry at the Fred Hutchinson Cancer Research Center
206-543-9749 or Toll free at
Dr. Johanna Rommens, PhD
Dr. Monica Bessler MD PhD
Dr. 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
in 2 ways:
1. Ask and Share personal, patient specific questions to other parents who may have just gone through what you are going through on the "List" which we are now calling
The Sharing Link
2. for more public sharing of your SDS experience, click on the link below to our new, official Facebook page!
Feel free to upload pictures of your kids, families, stories, videos, anything!!
NEW MEMBERS OF OUR TEAM - Joyce Wall and Dr.Sridhar Mani
Thanks to Jane Fitz
Our thanks go to Jane Fitz, our past Angel Anna Basket lady who did a wonderful job for us this past year helping to send baskets of goodies to those patients in our SDS community in the hospital. Jane just recently did a fantastic job fundraising for us as well so she hasn't really left us - just left as the Angel Anna basket lady. THANKS Jane!!
But taking her place is Joyce Wall. Here is what Joyce wrote for us to introduce herself to you all:
Hi, This is Joyce Wall. I am married to John. We have three children, Jennifer, 27, Joe, 24 (SDS) and Jonathan, 22 (SDS). Jennifer is married and working as a physical therapist in Charlotte, NC. Joe just graduated from University of Massachusetts, Lowell. He has joined John and I at our business of Wall Prosthetics & Orthotics, Inc which is a patient care facility where we fit and fabricate prostheses (artificial limbs) and orthoses ( braces) mainly for children. Joe is presently working full time as a technician. Jonathan graduated from Roger Williams University and is presently a substitue teacher looking for a full time high school history teaching position. He'll start on his masters in January. Joe was diagnosed just before his third birthday and Jonathan diagnosed six months later. We have been living with SDS for over twenty years. We continue to be seen at Children's Hospital in Boston with Dr. Neufeld. The boys presently transitioned to an adult primary care physician with new obstacles and challenges. I am looking forward to working on the Angel Anna Baskets.
Dr.SRIDHAR MANI has joined the Board of Directors of SDSF as a member of our Drug Discovery Team. We are getting serious around here about finding the cure and Dr. Mani has been an amazing, behind-the-scenes supporter of SDSF in the scientific arena. Dr. Mani has a nephew who has SDS and he has been attending many of our SDS Scientific Congresses over the years and then offered to organize our last SDS Congress at the prestigious New York Academy of Science this past June. He was the Founder Director of the Phase I Program and is a Professor of Medicine Medicine and Genetics at the Albert Einstein College of Medicine, Bronx, NY.&. He is a permanent member of the Developmental Therapeutics Study Section of NCI and serves as an editorial board member for Cancer Research, Clinical Cancer Research and Molecular Cancer Therapeutics (AACR). He has more than 100 peer- reviewed papers in journals like Science, Cancer Research, Clinical Cancer Research, Molecular Pharmacology, Molecular Endocrinology, Molecular Cancer Therapeutics, and Journal of Clinical Oncology.
WELCOME to both of these amazing people. We are so grateful that you have joined our team!!
RARE DISEASE CONGRESSIONAL CAUCUS
Rare Disease Congressional Caucus
The Rare Disease Congressional Caucus is a forum for members of Congress to voice constituent concerns, share ideas, and build support for legislation that will improve the lives of people with rare diseases. Members of Congress can join the Rare Disease Caucus by contacting the offices of co-chairs Rep. Joseph Crowley (NY-7) or Rep. Leonard Lance (NJ-7).
If you feel that your member of Congress should take up the cause, support laws that accelerate treatments and cures for rare diseases, and expand funding for research, encourage him or her to join the Rare Disease Caucus today! Find out how to contact your representative below.
Find Your Congressional Representatives
Find your Senator
Find your Representative
Click here for hints on how to contact your Congressional Representative
RARE DISEASE DAY 2012 - February 29 - Leap Year!
SDSF will join the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 29. The purpose is to focus attention on the needs of patients and families affected by rare diseases.
Rare Disease Day started in Europe in 2008. It was launched by EURORDIS (Rare Diseases Europe). Last year, it was observed in more than 60 countries, with a national sponsor in each country. NORD is the sponsor in the U.S. I (Blair Van Brunt) hosted an event at the Massachusetts State House and will do so again this year. We had a great turn out and much publicity - good news to create awareness for SDS! See what is going on in your community and raise your voice for SDS.
In the U.S., any disease affecting fewer than 200,000 Americans is considered rare. According to the National Institutes of Health (NIH), there are nearly 7,000 such diseases affecting nearly 30 million Americans. More than 500 patient organizations, government entities, research institutions, and companies developing treatments have signed up as Rare Disease Day Partners on the national website hosted by NORD (www.rarediseaseday.us). Shwachman Diamond Syndrome Foundation has been a partner for 3 years.
Rare Disease Day activities in the U.S. will include a "Handprints Across America" campaign to create a gallery of photos on the Rare Disease Day website; educational materials for classroom teachers; and a nationwide blitz of patient photos, stories and videos to increase awareness of specific rare diseases and the challenges of living with a rare disease. Check on the NORD web site for more information on this: http://rarediseaseday.us/take-action-now/get-involved/ or check out activities suggested for school aged kids:
Several special events are planned, including a scientific symposium at the National Institutes of Health (NIH) and a Rare Disease Patient Advocacy Day at the Food and Drug Administration (FDA).
ONGOING FUN FUNDRAISING IDEAS
In an effort to increase awareness of Shwachman Diamond Syndrome and fund ongoing research and family support I am 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 me an email letting me 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:
127 Western Ave,
Sherborn, MA 01770
If the purchase is made in honor of a particular person, please let us know so that we can note it in the next newsletter.
For more information contact:
Donna Garfield, SDSF Board member
RECYCLE YOUR OLD CELL PHONES by Joan Mowery
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 make sure to put the SDSF return address on the shipping label.
Shwachman-Diamond Syndrome Foundation
127 Western Ave.
Sherborn, MA 01770
This is easy-has no cost to you--and most importantly will help SDSF continue it's work to help our kids.
PLEASE START THIS CAMPAIGN TODAY. Please contact Joan Mowery with questions
SDS Rubber Bracelets can be bought through SDSF
and sold at any of these events below. We sell them for 10 @$25.00 and you can re-sell for whatever you feel your market will bear. If you need a large quantity, we will negotiate the price depending on the number needed.
CAN YOU SEND IN TISSUE? BLOOD? PATIENT INFORMATION?
|SDSF has a long history of many families participating in different studies that researchers are working on and who need tissue, blood or information of an affected SDS patient. There is no listing now but please check back here frequently as this listing may change. Of course, the SDS Registry is always in need of updated patient information and tissue and blood samples. Please go to the SDS Registry web site for more information on how to do this.|
Also, you can click here to see what the registered-by-NIH clinical trials are at this time : http://clinicaltrials.gov/ct2/results?term=shwachman
THANK YOU FOR YOUR DONATIONS (July 26, 2011 - December 25, 2011)
IBM Employee Services Center
Mr. & Mrs. John Wall
United Way of Mesa County, Inc.
United Way of Great Niagara
In Honor of Gracie Van Brunt - Many, many dear and wonderful friends and family
In Honor of Marissa Ann Arvoch - Nicole Carpiniello
In Honor of Emily & Kelsey Jenuwine - Diana & David Murphy
In Honor of Collin Brown - Richmond Rotary, Mike & Debbie, Bob & Jane Nelson,Mike & Julann McLaughlin
In Honor of Christopher Garfield - Donna Garfield, Stefanie Holloway
In Honor of Jessica Bodron - Precision IBC, Inc, United Color Manufacturing
In Honor of Sarah Kilby - Arthur & Maureen Hicks, Millie Cassidy
In Honor of Chandler Davis - Jennifer Davis, Loti Management
In Honor of Michelle Ellebracht - Joan & Greg Mowery, Robert & Caramae Knickmeyer, Luthur & Antoinette Launius, Christine Tobnick, Little Pleasures Foods
In Honor of Matthew Valiante - Patricia Michelson, Fredrica Brown, Judith & George Paley,
Leon & Palma Davison
In Honor of Joan Mowery - Cornelius DeBoer
In Honor of Troy & Kelsey DeBoer - Jake & Lois DeBoer
In Memory of Henry King - Patricia Michelson, Karen & Kevin Burke, Albert & Sharon Carbone
In Memory of Mary Dykema - Barbara & Peter Szesterniak
In Memory of Alexis Layton McFarland - Donna Layton Evans
In Memory of Zelma Zoellner - Robyn Roy
In Memory of Brett Bergman - Mr. & Mrs. Wall
WELCOME NEW SDS FAMILIES!!
Glen Rose, TX
Silver Springs, MD
Johannesburg, South Africia
| Shwachman-Diamond Syndrome Foundation |
FOUNDER: Joan Mowery 1994
BOARD OF DIRECTORS
Blair Van Brunt -President
Bryan Sample - Treasurer
Ed Bickel - Special Programs
Sridhar Mani - Discovery Comittee
Other Amazing Leaders
Joan Mowery - Family Follow Up
Joyce Wall - Anna Angel Basket Coordinator
Kim McDowell - Administrative Assistant
Ann Bodewes Stephens, Herzog Crebs
BOOKEEPER: Letitia Cote, Quickbooks Advanced Certified Proadvisor
Shwachman Diamond Syndrome Foundation
127 Western Avenue
Sherborn, MA 01770