| Happy Spring!|
Happy Holidays!! We've had yet another busy year. We started out the year with our first ever Regional Contacts Conference call to check in with each other and update the contacts on the latest that is happening within SDSF and the SDS community at large including research. This was followed by me hosting another RRD at our Mass State house bringing more awareness to SDS regionally and nationally. In March we received 3 Letters of Intent for research grants while busily planning for our bi-annual family conference at Camp Sunshine which was held in June. A couple of people/families put together fantastic fundraisers this year with proceeds going to SDSF to whom we are grateful. The SDS Registry is going well (update article below). And we hired a new web site developer who is terrific. SDSF is constantly trying to stay current with the web site upkeep as we recognize that patients, families and the medical community all access it for information.
And don't forget that our Fundraising Challenge is going on right now!! Please contribute however much you can and ask your friends and families too.
Another exciting piece of news is that we have 2 new board members who joined in October: Sue Matthiesen and Christine James. These 2 ladies will make amazing additions to the Board and I welcome them wholeheartedly. They each have written a short bio about themselves later on in the newsletter.
Remember-SDSF is here to serve you all. But......we need your support either financially or through your services.
Here is a phrase that I like that I want to share:
If you want to go fast, go alone. If you want to far, go together.
When one has a child, sibling, parent, relative or friend with a life threatening disease, one wants to go fast to get a cure. Yet no one can find a cure alone. A cure seems "far away" and thus we must go together. How can we all pitch in to achieve this goal together? What do we need to get to a cure or at least a curative or ameliorative treatment of some aspect of this life threatening disease? These are important questions for all of us to ponder and if we all pitch in we can go fast and far!
Lastly, it is with conflicting emotion that I will say goodbye to being president effective December 31 as I have enjoyed pouring my heart and soul into running this organization while implementing updated and new systems and policies, creating a new web site, meeting so many incredible families and patients and trying to keep the word CURE on the map! I will remain on the Board while helping to navigate the next phase of the research that we have been supporting having to do with re-purposing a drug as an ameliorative treatment and possibly a cure. I will not be involved in the day to day running of the organization but will be available for any questions/comments via email.
I hope that your December will be calm and you that you will find joy where you can!
With blessings and peace,
Blair Van Brunt, President SDSF
Welcome to 2 New Board Members-
Sue Matthiesen and Christine James
I am a mother of a 5 year old son who received a genetic diagnosis of SDS shortly after birth and a daughter age 7. I live in Maryland and work in not-for-profit organization focused on health care quality.
After developing severe aplastic anemia and intermittent neutropenia within a few months after birth, our son received a genetic diagnosis of SDS by the time he was 6 months of age. With such a rare and complex diagnosis, my husband and I, and the rest of the family mobilized to educate ourselves and our medical professionals about the immediate and long-range impacts of this condition as well as focusing on maintaining a positive home life for our young family.
As our son's condition has stabilized and he has grown into an intelligent, engaging, and energetic boy, I am finding time to engage in leadership of the foundation. In addition to my personal experience, I hope to bring senior-level non-profit healthcare management experience to the foundation.
I am from the Washington D.C. area and am mom to Bodie, who had a bone marrow transplant on 1-21-11. He was genetically diagnosed with SDS at 13 months old. I am a stay at home mom due to the many hospitalizations, doctors appointments, and illnesses Bodie endured. I am a Navy wife too. The military lifestyle has us far away from family. This I believe has helped in making us a close family of three, and me a mother who will always be an advocate for Bodie.
I know how difficult it can be having a child go through transplant, how it can affect every aspect of your life and that of your entire family. I am happy to help any family finding themselves facing that experience.
Please join SDSF in welcoming these 2 wonderful ladies and their families to the Board.
GOODBYE TO BLAIR AS PRESIDENT-by Sue MatthiesenBlair Van Brunt's Term as President of the Shwachman Diamond Syndrome Foundation Comes to a Close December 31, 2012
In September of 2012, Blair informed the board of the SDS Foundation that she will step down as President effective December 31, 2012. Blair will stay on as a board member to serve as the board representative leading the SDS Research & Drug Discovery initiative.
While there are many of us in the SDS community who have had the pleasure to work with Blair, there are many others who may not be aware of the outstanding leadership she has brought to the SDS Foundation in the last 5 years. This article offers a retrospective about how Blair got involved in the SDS Foundation, and it highlights some of her numerous accomplishments.
Blair began the journey to becoming President of the Shwachman Diamond Syndrome Foundation upon the birth of her third child, Gracie, who was diagnosed with SDS at the age of 2 in December of 1996. Since 1998, her family has been hosting an annual SDS Fundraiser at their home with annual proceeds of $50,000-$70,000 going to the SDS Foundation. Along with other fundraising from other foundations her family's total donations to SDSF are over $700,000.
Blair joined the SDS Foundation board in 2004 as Vice President and became President in 2008. Blair's multi-tasking skills combined with her marketing and sales experience has served the SDS Foundation well by enabling the organization to effectively manage business operations and conduct successful fundraising initiatives.
Here is a sampling of Blair's many accomplishments on behalf of the SDS Foundation:
- Redesigned and maintained the Foundation website
- Created a Doctor Database for the SDS community
- Authored last 5 years of the Foundation newsletter
- Participated in the creation of the first SDS patient registry
- Authored the SDS Foundation investment policy for donor estate planning
- Implemented local events such as the Rare Disease Day at the Massachusetts State House to increase awareness of SDS in biotech, medical, and general local communities and worked with Boston Children's Hospital to obtain approval for the first SDS Family Education Day to be held May 2013
As you can see, Blair is passionate about moving the SDS Foundation in many positive directions that benefit everyone affected by SDS. On behalf of the board of directors of the SDS Foundation, we thank Blair for her dedication and hard work. We look forward to continuing to work with her in her new role on the SDS board.
There have been many new research articles published since the last newsletter in August. The research found in these articles is from some of our Medical Advisory Board members, other scientists who have been working in the SDS field for a long time and some new-to- the-field scientists - and some from other countries! It is really exciting that there is so much more focus on SDS in the world now and this can give us all hope that there will one day be a cure. Certainly there are already better treatments. Check out this link to Pub Med to see all of the published SDS articles and we have a link in the column to the right.
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 Michelle Pugliares
I am a 30 year old adult with SDS. I have 2 younger brothers and there is no known history of SDS in my family. At birth, I weighed 6 lbs, 9 ozs and was a fussy baby, things didn't seem right almost immediately, had projectile vomiting, cried a lot. The pediatrician suspected a kidney ailment and sent me to a Nephrologist at Massachusetts General Hospital. At 3 weeks of age, I was diagnosed with Renal Tubular Acidosis - a kidney condition that the doctor said I would outgrow. The treatment regimen was a bicarbonate supplement added to everything I ate and drank to offset the acid that I could not waste out of my system due to the RTA. The doctor (chief of nephrology) claimed that too much acid in your system stunts growth. Visits every week went on for many years - with growth very slow. I was 11 lbs on my first birthday and 16 lbs on my second. Did you know that a person is half of his adult height by the age of 2 and that growth not achieved by this age one can never make up? Due to my size, my motor development was affected also - crawling, walking, climbing stairs. I was in and out of the hospital for the next 4 years - pneumonia, failure to thrive, reactions to medications, hives, unexplained bumps. My mom asked the doctors many times if they were sure it was RTA, was there something else? When I was 4, I had my first BMB - hemotalogist told my parents I probably had leukemia. Negative. I went to supposedly the best hospitals - the best doctors. At the time there was no internet, no one else to compare notes with. My diagnosis was RTA- the stools where a result of the bicarbonate supplement I took and everyone thanked the heavens because "I had a great appetite!!!"
During my childhood (8 and up) I wasn't as sick although I got sick a lot and missed school. I also struggled with language-based learning difficulties. I struggled to learn, had some tutoring along the way, but mostly just kept running to keep up. My parents took me out of soccer because the ball kept hitting me in the head, not my stomach like the others, due to my size. So I danced - a lot - ballet, jazz - and ice skated. Also, I was diagnosed at 17 with amenorrhea and was followed by endocrine at Boston Children's Hospital where I took growth hormones for 2 years and actually grew another inch! (5'1"). I was small, but well proportioned and didn't appear to be ill at all most of the time. I went to parties, went to proms, had many friends, had a boyfriend, all the normal stuff teenagers do.
At the end of my senior year of college, I experienced stomach pain and went to the ER where a CT scan showed that my pancreas was replaced with fatty tissue. Then began my journey with SDS. Doctors at Brigham and Women's finally figured it out and the genetic test came back positive for SDS. I was 24 years old and just about to graduate college. Do you think for a minute that I believed these doctors? My faith in them was slightly shattered!!!!! For the next 6 years, I was mostly in denial. Having lived with the symptoms my whole life, having a diagnosis did not seem any different - my life went on as usual. Lots of sicknesses and infections and trips to the doctors. What the doctors were telling me about bone marrow failure did not concern me and I took no ownership of it. Until I fell and broke my hip in February of 2011 - the beginning of a horrible year. I am post BMT one year (November 9, 2011) from an allogeneic mini stem cell transplant from my younger brother who was a 99% match. My recovery was long, hard mentally and emotionally, but uneventful medically - no GVHD, no hospitalizations. I am one of the lucky ones and I am so very grateful.
My advice to parents with young children is to give them lots of calcium and Vitamin D, make sure their bones stay strong with exercise, eat healthy foods (I have my whole life and have never abused my body with drinking or drugs), bring them to counseling because when you are living with a chronic condition, you need an expert to talk to. And, last but not least, let them live as normal a life as possible because it is possible! God gave us an inner strength that others do not possess. I have learned to take ownership and control of this condition as best as possible, but it does not and will not own me.
SDS REGISTRY UPDATE
I have received an update from the principal investigators of the Registry who are telling us that enrollment in the registry is up by 25% up to 95 consented patients and 67 with patient data actually in the system! An additional database has been created for the registry to track CBC (complete Blood Counts) that allows for graphing an individual's CBC over time. This is an amazing tool that can not only help with information for that patient but it can help hematological research.
Dr. David Dale and Dr. Akiko Shimamura, the principal investigators, will be presenting this information at the upcoming American Society of Hematologist conference to be held later this week.
For more information on the process of joining the Registry click here.
The bottom line is that checking in regularly with the Registry 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
What is Sequestration? Will it affect rare disease research?
Research matters to everyone -
particularly those of us dealing with rare diseases
information from partners NORD and FasterCures
What is sequestration? Answer: Budget Cuts
Last November, the Joint Select Committee on Deficit Reduction, a bipartisan, bicameral group of 12 legislators, was unable to reach agreement on cutting $1.2 trillion from the federal deficit from 2013 to 2021. As a result of their failure, the Budget Control Act of 2011 stipulates that $1.2 trillion will instead be cut over the same time frame through the process of sequestration, or the automatic, across-the-board cancellation of a certain percentage of budget authority each year. These cuts are scheduled to begin on January 2, 2013, and half of the cuts each year will impact defense programs while the other half will occur in certain non-defense programs.
How will sequestration impact medical innovation?
The prospect of automatic spending cuts, or sequestration, which will take effect in January 2013 if Congress does nothing, threatens the future of U.S. leadership in medical research and development and will delay or permanently remove access to life-saving medical treatments. Sequestration would slash federal investments in critical health, scientific, medical, and biological research aimed at discovering treatments, moving safe and effective new medicines to market, and creating innovations to grow our economy.
If federal funds were sequestered, what will happen to the search for cures for deadly and debilitating diseases?
According to a report released by the Office of Management and Budget, sequestration would have a "devastating impact" on scientific research, and "The National Institutes of Health would have to halt or curtail scientific research, including needed research into cancer and childhood diseases."
How will sequestration impact FDA?
With responsibility for products that comprise more than 20 percent of all national consumer spending, the U.S. Food & Drug Administration (FDA) oversees several industries that are key to our nation's growth and prosperity. Unless Congress acts, $3.873 billion of FDA's budget is subject to an 8.2 percent reduction (merely $67 million of the agency's budget is exempt from the sequester). That cut means that sequestration will erase $318 million from the FDA's budget. Virtually all user fees that were active in FY 12 are considered part of the sequester. Such a loss will devastate the agency, cripple its ability to do its job, and put millions of Americans at greater risk from unsafe food and drugs that come from both inside our borders and abroad. For more information, visit Alliance for a Stronger FDA.
What will this do to the important research at our nation's academic institutions?
The funding cuts to the NIH through sequestration would mean that 2,100 fewer new and competing applications for medical research grants would be awarded. This would cause the shutting down of already active research labs on campuses all over the country and would discourage young investigators from entering the field of medical science.
Is there something I can do?
Contact your Members of Congress and let them know that further cuts to the NIH and FDA will set us back on the path to new therapies and cures for disease, jeopardize our economic competitiveness, and result in loss of jobs in communities throughout the country. Share with them why a strong investment in medical research is important to you, your family, and your community.
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 this.
Find your Senator
Find your Representative
Click here for hints on how to contact your Congressional Representative
Upcoming RARE DISEASE DAY FEBRUARY 28th, 2013
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 on the last day of February every year. In 2013, it will be observed on February 28th. Learn more about the History of Rare Disease Day, Past Successes or the Goals and Plans for this year.
Anyone can be involved in Rare Disease Day and there are many suggested activities
. The day has been established as a grassroots advocacy day and we encourage everyone to participate in some way!
I (Blair Van Brunt) 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 and will be hosting our 3rd this coming February. We have had such interest in this event that the National Organization of Rare Disorders asked us to help create a toolkit for others to bring rare disease awareness to their state legislators around the country.( http://rarediseaseday.us/events/state-house/ )
Contact NORD for any questions on how you can get involved!!
SDS Patient & Family Days
at Seattle and Boston Children's Hospitals
April and May
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.
We'll keep you posted on info for the Boston Children's Hospital 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 and and all of you to raise any amount of funds that you can to support research and the organization. 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 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 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 buddin g 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 contact Joan Mowery with questions
| CONSENSUS STATEMENT|
SDSF wants to remind everyone to give their current or future doctors the Consensus Statement 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 that is only because it waiting to be published in a medical journal. IT IS THE FINAL PAPER for current reference.
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. 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 (August 2, 2012 - December 5, 2012)
Rose & Frank Canonico
United Way of Greater Niagara
United Way of North Central MA
In Honor of Gracie Van Brunt -
All those who have donated to the Barn Dance event
In Honor of Quinlan Kohn - Jeff Kohn & Sue Matthiesen
In Honor Peyton Sherman - Nancy Rasco
In Honor of Collin Brown - Richmond Rotary Club
In Honor of Jessica Bodron - Timothy & Jon Marie Bodron, Precision IBC, Inc.
In Memory of Brandon Fletcher - Katherine St. Onge
In Memory of Anne Sickles:
Jennifer Kennedy, Dr. Andrew & Robyn Becker, Thomas Schneckener, Andres Marek,
Jameel Jiwani, Maria Kang, Jason Caiola, Daniel Newell, Michael McKeigue, Henry Sullivan,
Mark Hebeka, Nicholas Gambardella, Lisa Palermo, Mauricio Machado, Lisa Cunningham,
Stacy Bernstein, Stephen & Jamie Dane, Andrew & Catherine Daponte, Paul & Maureen Schenfeld, Patricia Beans, Jerold & Barbara Mayer, GMA, Amsterdam School & Home Association,
Schroder Investment North America
WELCOME NEW SDS FAMILIES!!
Elk Grove, CA
Terre Haute, IN
Walnut Creek, CA
Staten Island, NY
Chila Vista, CA
Fort Gordon, GA
| Shwachman-Diamond Syndrome Foundation |
FOUNDER: Joan Mowery 1994
BOARD OF DIRECTORS
Blair Van Brunt -President, Research & Drug Discovery Committee
Sue Matthiesen - Vice President
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