| Happy Spring!|
We hope that you have survived (still surviving) the winter. As usual we have many exciting things going on within SDSF. We are getting closer to having an SDS drug that will help many in bone marrow failure; we have another SDS Scientific Congress coming up in November that will focus on more and upcoming SDS specific research; a terrific family story and an update on the SDS Registry.
But most of all, we have 3 cool fundraisers that we encourage you to donate to. Without your financial help, none of this important work can happen which helps all of our families in one way or another.
Always feel free to contact SDSF for any questions or suggestions you may have. We are all in this together!
Blair Van Brunt
Biking the Continental Divide, Half IronMan competition and a Music Video -
all by SDS Families and a Patient
TURK'S TOUR DIVIDE
Ed Turkaly is the father of a 4 year old son, Cason, with Shwachman Diamond Syndrome. There are approximately 3,000 children and adults in the world who are known to have SDS.To raise $100,000 for SDS research and education, Ed Turkaly (Turk) will embark on one of the most challenging mountain bike races on earth in June 2013. Can you help him reach his goal? The Tour Divide is a self-supported race that takes place along the Adventure Cycling Association's Great Divide Mountain Bike Route-all 2,745 miles of it. While there are no set distances to travel each day or assigned rest stops, the clock continuously runs as mountain bikers make their way from Banff, Canada, to Antelope Wells, New Mexico. Racers typically take three weeks average to complete the race. Turk will ride in honor of his young son and all the other individuals affected by SDS.
Follow Turk via Twitter at "Ride4SDS" or on YouTube at http://www.youtube.com/watch?v=quede0Jltoc
His bike route will take him through parts of Montana, Wyoming, Colorado, and New Mexico. If you are along his bike route and would like to connect with Turk, please contact Jen Turkaly
JEFF KOHN's Half IronMan Competition Jeff has a son, Quinlan, who has SDS who he will compete on behalf of."This will be my third half ironman and I hope to break 6 hours this time. I train 6-8 hours a week, often 6 days a week. I usually bike three times, run twice and swim once. Last year, I started the run, which is the last leg of the race, in 98 degree weather, so the 13.1 miles were a difficult, long slog. My final time was 6:17, so I'm hoping that the weather will be better and my hard training will pay off. Quinlan and his health are on my mind all the time. Last winter, he had pneumonia six times and this year it has been better because Sue and I search for the slightest signs of sickness and try to head things off before they get too bad.
Please click here to read more on this fundraiser and donate to SDSF while supporting Jeff!
Gracie Van Brunt's Music Video
Gracie, an 18 year old SDS patient, will be making a music video of her original song, Thomas' Song, as part of her senior (high school) project. She has hired a professional director is raising money to get the project off the ground. She will be donating 10% of the proceeds to SDSF. Check out her YouTube video about the project. And visit the site that is accepting the pledges through Pledge Music here .
Visit www.gracievanbrunt.com for more info on Gracie.
Moving SDS Science Forward for New Treatment for Bone Marrow Failure
A member of our SDSF Medical Advisory Board and Principal Investigator for the SDS Registry, Akiko Shimamura MD, is investigating the effects of an already- FDA- approved drug on SDS bone marrow failure and how it may help stabilize the cells. In collaboration with Dr. Jim Huang of University of San Francisco Children's Hospital and Paul de Figeureido of Texas A&M and Dr. Jessica Pollard of Seattle Children's Hospital, they are testing the compounds of this drug against SDS cells and preliminarily getting positive results. If this science can make it from "bench to bedside" as they say, this medication may give a patient in bone marrow failure time to find a bone marrow match, better prepare for transplant or surgery or perhaps even improve the cells enough so that a transplant is not needed.
There is much work to be done on this project but it is hoped that the science will lead to a clinical trial sometime in 2014. That seems like a lifetime away for us families who have SDS patients in our midst but these things take time. In preparation for getting to clinical trial, there are many steps to be taken and SDSF has partnered with some amazing organizations and people to help make this happen.
Scott Weir, Director of the Medical Innovation Institute at the University of Kansas, is our chief partner. Scott is the Director, Institute for Advancing Medical Innovation; Associate Director, Translational Research, University of Kansas Cancer Center. A few years ago, he formed a coalition of partners to form The Learning Collaborative who helped re-purpose a drug for chronic lymphocytic leukemia which is in clinical trial right now. The Learning Collaborative partners include National Center of Advancing Translational Science, a division of the National Institutes of Health and the Lymphoma & Leukemia Society, through their Chief Mission Officer, Lou DeGennaro. Another key partner whom Scott has invited to join the team is Dr. Robert Arceci, co-director of the Ronald A. Matricaria Institute of Molecular Medicine at the Phoenix Children's Hospital, and a doctor who has had much experience bringing drugs to trial and then to patients.
Some common misconceptions are that clinical trials are last-resort efforts and one should only participate when all other approved treatments have failed. But clinical trials are truly the crux of giving patients hope. These trials can lead to even more drug development and medical innovation that will help our SDS patients survive and thrive.
Please contribute your donations today. Make sure to tell your friends and family too!
7th SDS INTERNATIONAL SCIENTIFIC CONGRESS
The International Congress on Shwachman Diamond Syndrome is organized and held every 2 years by different organizing committees comprised of only doctors and scientists who have volunteered their time and efforts for this tremendous endeavor. It is arguably the most important conference and event that SDSF can help fund because it brings together so much of the SDS science and the creators of the science in one room to help figure out how we can best treat and hopefully one day cure SDS. It is funded by various grants obtained by the organizing committee and by funding from SDS patient advocacy groups like SDSF here in the US and around the world. SDSF has contributed $15,000 this year.
Doctors,researchers, scientists, Fellows, and medical students from the United States, Japan, Germany, Holland, Britain, Finland, Canada, Argentina, Brussels, Denmark, France and elsewhere gather to present, discuss and disseminate the newest research concerning SDS. Representatives from the patient advocacy groups from around the world are invited to participate as well.
This biannual Congress - the only multidisciplinary forum devoted specifically to SDS - explores the most important recent advances in the understanding of the clinical features, current management and treatment of SDS, and the molecular function of SBDS in hematopoiesis, leukemogenesis, and organogenesis, via a series of plenary lectures, poster sessions, interactive panel discussions, and workshops.
Everyone is welcome to attend. Please register here
SDS REGISTRY UPDATE- by Carol Kolar
We have reached the 100 'consented person' mark for the registry! This is an exciting development because 100 is the number that our researchers give us for meaningful research to be conducted and funded by the NIH. The registry is a great tool for helping to provide the vital information that will eventually lead to a cure for SDS. It has already contributed to research papers that have illuminated the many facets of this syndrome. For now, the two center model remains, with the University of Washington serving as the primary site, with collaboration from the University of Cincinnati. We have come a long way since the registry's inception in 2008. More information, including contact numbers can be found on the SDSR website. If you haven't already, make sure that you register. If you are registered, keep up with your annual updates. The forms are available on the SDSR website.
For more information on the process of joining the Registry click here.
Remember to check in regularly with the Registry as they can help us remember to include them in our planning for medical record keeping and tissue collection.
Principal Investigator - Dr. Akiko Shimamura
CONTACT: Barbara Otto, Research Nurse
CAN YOU SEND IN TISSUE? BLOOD? PATIENT INFORMATION?
|SDSF has a long history of many families participating in different research studies that need tissue, blood or information of an affected SDS patient. There is no listing now but please check with SDSF frequently as this listing may change. 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, to learn about any SDS clinical trials that are regstered through the National Institutes of Health please visit : http://clinicaltrials.gov/ct2/results?term=shwachman
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
If you are already registered, please remember to send in annual updated medical records and fill out the annual questionnaire obtained from the Registry.
SDS REGISTRY WEB SITE
Dr. Akiko Shimamura, Seattle
Research Nurse - Barbara Otto-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
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-
Mary Lionberger -no contact information available at this time. check back later.
COMMUNICATE WITH OTHER FAMILIES
in many ways:
1. Ask and Share personal, patient specific questions to other parents who may have just gone through what you are going through a private, closed facebook group. Please email Donna Garfield for an invitation to the group.
2. for more public sharing with your friends and families of your SDS experience, click on the link below to our official Facebook page!
Feel free to upload pictures of your kids, families, stories, videos, anything!!
Patient Story - by Erika Reiger
My amazing boy Michael has SDS (Shwachman-Diamond Syndrome) along with many other strong, talented, and brave children. Most of the time this syndrome is caught very early in life. Michael wasn't diagnosed until he was seven years old.
Not having a diagnosis led us down many paths and he started off on a ventilator for the first month and a half of his life. Dr. Margetis (CHLA Pulmonologist) quickly became part of our family and often times we saw her more than our own family. Born with an extra thumb directed the NICU staff immediately to the kidney where they found it horseshoe shaped (which means he only has ONE). Due to his pulmonary status and his horribly bell shaped small rib cage he was first diagnosed (dx) with Asphyxiating Thoracic Dystrophy which led us to a titanium rib cage surgery consultation and this led us down a very different road and care plan.
After 77 days in the NICU and proving he could suck, swallow, and breathe at the same time, we finally went home with a heart monitor and oxygen. He quickly aspirated on his food, stopped breathing, and was rushed to CHLA for our first of many visits to the hospital. A G-tube was placed and he used that for his main nutrition for the next 6 years. Before the dx he was tested and retested for Cystic Fibrosis and Celiac Disease and had more bladder and ear infections then most of us have in a lifetime. When I think of all the fevers and lethargy we battled without knowing how dangerous they were, I realize how lucky and blessed we truly are.
By March 2007 Michael (7 years old) was 24 pounds and was in a heap load of trouble. He had major blood issues and petechiae all over his body and face. I received a call from Dr. Julie Wolfson (a CHLA Hematologist/Oncologist resident at the time). I was no stranger to what hematology/oncology was so receiving that call, begging me to make an appointment immediately, made me acutely aware that this was very serious. Dr. Wolfson had teamed up with Dr. Yamaga (a CHLA GI) and suspected SDS.
Before we knew it Michael was getting his first of many bone marrow biopsies. Dr. Pickle (Michael's nickname for Dr. Wolfson) and Dr. Hofstra (CHLA Hem/Onc) shared the devastating results...he had MDS (Myelodysplastic Syndrome (MDS) a group of diseases that affect the bone marrow and blood)...yes the disease Robin Roberts is battling. We were in a transplant conference quicker than I could get my hands around it. Much to their surprise, and after I was given the chances of his survival and the odds that it would come back, I asked for a year of nutrition and supplementation (specifically copper and zinc) since he had spent 7 years not able to absorb any nutrients. Within 6 months, his bone marrow was producing healthier cells. They now refer to that experience as nutritionally induced pre-leukemia.
Michael has upwards of 10 specialists and battles chronic severe neutropenia, osteoporosis, coxa vara of his hips, kidney issues, growth delay, psychosocial issues, developmental delays, pain, and high functioning autism. Our thanks go out to all the above-mentioned physicians and also to Dr. Lightdale (CHLA Ortho who removed his extra thumb), Dr. DeFilippo (CHLA Urologist), and especially Dr. Keefer (our new Pediatrician who has the difficult task of managing his care). I also have to express my sincere gratitude to Barbara Churchill (Nutritionist) for building Michael back up and keeping him well nourished and protected. We could never have done it with out your love and support. We miss Dr. Pickle (Wolfson) and are very fortunate to have Dr. Hofstra help us down this scary road with a positive attitude and careful hand.
Michael has SDS and he is also kind, smart, musical, artistic, brave, and goofy. This disease has changed our life and made us appreciate everyday...especially those days that are free of illness and trauma.
It has taken years for us to figure out what works for him and how to keep him well which include a careful balance of nutrition, movement, germ awareness and hand washing. With an earlier diagnosis who knows how much we could have avoided...hence our efforts to spread the word about SDS...and increase the research and forward movement towards a cure. This past January we celebrated 2 YEARS HOSPITAL FREE. With the help of all of my old/new SDS family (some we met for the first time at Camp Sunshine in June 2012) I have learned that we are not alone and that we belong to a very special family. This has been an emotional journey but knowing that there are people out there that really know how we feel...has helped.
We met 40 other families affected by SDS at Camp Sunshine, the place for the SDS Family Conference...and I had never before even met ONE. It was an overwhelming experience on that fact alone. We met teenagers and even some much older that have survived with this and taught us more about how to cope. A smart, handsome, and brave young 3 year old taught Michael (an 11 year old at the time) how to swallow all of his pills, which I couldn't be more grateful for. No longer did I have to try and mix them into yogurt or ice cream or whatever we had. We also met the youngest camper with SDS a beautiful 18-month-old girl from San Francisco. We had the pleasure of meeting a very special, young 15-year-old boy who was much more than this illness and who earned his golden wings recently after two bone marrow transplants. I will never give up; we will never give up, because we have met him, his family, and many other BRAVE children.
We continue to move to a CURE for a FUTURE for our children and will hopefully attend the 7th International Scientific Congress on Shwachman-Diamond Syndrome in Toronto, Canada November 4-6, 2013.
This year is the 30th Year of the Orphan Drug Act and the Creation of NORD
30 Years of Progress
Patient advocates played a key role in Congressional approval of the Orphan Drug Act. In the decade before 1983, only 10 new products had been developed by the pharmaceutical industry for rare diseases.
The Orphan Drug Act would provide financial incentives to encourage companies to develop treatments for small patient populations. However, it was stalled in Congress until Abbey Meyers and other representatives of patient organizations formed a coalition to get the legislation approved.
It was not an easy task, and it involved learning to work with Congress, the media and - most important of all - each other, but the patient advocates did their job well and the legislation was approved by Congress and signed by President Ronald Reagan on January 4, 1983.
Shortly afterward, the patient leaders held a meeting at which they decided to continue their partnership through an organization to represent all Americans affected by rare diseases. That organization was NORD.
Shwachman Diamond Syndrome Foundation has been a member of NORD for 15 years.
Find Your Congressional Representatives if you would like to contact them about any questions you may have about the Orphan Drug Act.
Find your Senator
Find your Representative
Click here for hints on how to contact your Congressional Representative
RARE DISEASE DAY FEBRUARY 28th, 2013 at the Massachusetts State House-by Blair Van Brunt
Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. It started in Europe and came to the US through NORD. The day is celebrated annually on the last day of February.
I have been involved in creating and organizing a celebration at our Massachusetts State House with a partner, Massachusetts Biotechnology Council, for the last 2 years. We hosted our 3rd event this past February. We had 2 SDS families there!! Lorene and Michelle Pugliares (a "family story" on the web site) were in attendance and Michelle even volunteered as an usher at the event! What fun it was to have Michelle and Gracie together! (photo of them below).
We had a fabulous event on the 28th! 8 marathon runners from Dyax Corporation ran 15 miles from their office to the State House to present the Governor's Proclamation that Feb 28th, 2013 is declared Rare Disease Day 2013. We had 3 speakers from the Massachusetts legislature; the COO from NORD, Pam Gavin; and 3 speakers, each with a rare disease, who spoke of their experiences. The event wrapped up with an original song by Gracie Van Brunt. It was a terrific celebration and I hope that everyone makes it to a rare disease day event of some kind as they will be happy to join forces with other people who are interested in the world of rare disease.
Here is a contribution from Michelle Pugliares, SDS patient, about the event:
"Going to the Rare Disease Day 2013 event at the Massachusetts State House was a wonderful experience for me for many different reasons.This was my first time going to this event and it was nice to be involved by participating as an usher as I got to meet many people from many different organizations and companies.
But the most important part of Rare Disease Day was that I felt special and not so alone fighting a rare disease. It made me realize that people really do care - that companies, state house representatives, and individuals who battle a rare disease are trying to do something by bringing awareness to our situation to this level. There are so many brave people fighting a rare disease - I am not alone. The speaker's stories were heartbreaking and I cried both with them and for them."
SDS Patient & Family Days
at Seattle and Boston Children's Hospitals
April 27th and July (day to be determined)
Two hospitals in our Doctor Database National Clinic network are each hosting a SDS Patient & Family Day- In Seattle & Boston Children's Hospitals. No matter where you live and whether or not you see a doctor in that hospital, you are welcome to go!!
These gatherings will consist of a free program for adults, children and their families with Shwachman Diamond Syndrome. SDS Family Day is a chance for patients, families and friends affected by SDS to come together, share experiences and learn from each other. It is also an opportunity to find out more about treatments, testing and managing SDS from medical experts. Lunch will be provided and a playroom will be open for school age children.
In Seattle, the speakers will include pediatric hematologist, Dr. Akiko Shimamura, and adult hematologist, Dr. Sioban Keel. Dr. Rebecca Johnson will discuss the genetics of SDS. Dr. Laurie Burroughs will discuss current transplant options for children and adults with SDS. Dr. Matthew Giefer will address the pancreatic and gastroenterology issues related to SDS.
The date, time and speakers are still to be determined in the Boston Children's hospital but we do know that it will be sometime in May.
Here is the info for Seattle: Click here for a printable poster
Seattle Children's Hospital
Sound Cafeteria on Whale 5
April 27, 2013; 1030 a.m. to 4 p.m.
Check on the web site in May or email SDSF for an update for the Boston Children's Hospital SDS Family Day for day and time.
SDSF is hoping to create a toolkit for other hospitals to follow suit and provide similar events for SDS families. Please let SDSF know if you think that your hospital would host a Family Day
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.
~Click here for some more advice on fundraising~
~If you want to create an event, here is a link with ideas
SDS Rubber Bracelets can be bought through SDSF
and sold to family, friends, schoolmates etc. We sell them for 10 @$25.00 and you can re-sell them for whatever you feel your market will bear. If you need a large quantity, we will negotiate the price depending on the number needed.
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 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, please 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 contact Joan Mowery with questions.
| AGREED UPON STANDARDS OF CARE FOR DIAGNOSIS AND TREATMENT|
SDSF wants to remind everyone to give their current doctors the Consensus Guidelines for Diagnosis and Treatment of Shwachman-Diamond Syndrome which is a paper that has been written through consensus by many members of our Medical Advisory Board and other SDS experts from around the world. It contains the most current information about diagnosis, treatments, management and more.
You can access it here: http://www.shwachman-diamond.org/index.php?option=com_content&view=article&id=43&Itemid=185
It says that it is in draft form but IT IS THE FINAL PAPER for current reference.
THANK YOU FOR YOUR DONATIONS (December 6, 2012 - April 9, 2013)
Rose & Frank Canonico
Little Pleasures Food
Monadnick United Way
In Honor of Joan Mowery - Benjamin Hardy
In Honor of Quinlan Kohn - Jeffrey & Gail Kohn, Laura Kohn
In Honor of Gracie Van Brunt - Gracie Fund
In Honor of Kaitlyn Bright - Kelly & Brian Bright, Noson & Michele Fontenot
In Honor of Anthony Del Re- Mr. & Mrs. Del Re
In Honor of Collin Brown - Mike & Debra Brown, Bob & Mary Jane Nelson,
George & Nancy Heape, Morris & Judy Salter, Micahel & Shannon Yarbrough
In Honor of Jessica Bodron - Tammy Broussard, Timothy & Jon Marie Bodron,
United Color Manufacturing
In Honor of Erin Johnson - Erin Johnson
In Memory of Melanie Huh - Flashdrives purchased by Wanda Huh, Erin Johnson, Mr. & Mrs. Coleman, Oscar & Wanda Huh
In Memory of Steven Richtarick - Denise Rictarik, Mark & Doris-Ann Synowiec, Mike Kearney's NGEN Colleagues, The Providence Engineering Society, Patrick & Noreen Tracy, Denise & David Allan, Bruna Boyle
WELCOME NEW SDS FAMILIES!!
Center Reach, NY
College Place, WA
| Shwachman-Diamond Syndrome Foundation |
FOUNDER: Joan Mowery 1994
BOARD OF DIRECTORS
Sue Matthiesen - Vice President
Blair Van Brunt -Research & Drug Discovery Committee
Bryan Sample - Treasurer
Ed Bickel - Facebook coordinator
Christine James - Family Support and Transplant Liaison
Sridhar Mani - Research & Drug Discovery Committee
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