|Happy Spring to all of you!|
2012 has started out wonderfully. We wrapped up our successful fall fundraiser - raising over $13,000. With the additional $10,000 from the Kolar Family, we are in a terrific position to pay for our upcoming Family Conference to be held at Camp Sunshine, Casco, Maine. Check our web site for more info. There is a brief bit of info on the home page and a saved email blast on the newsletter sign up page.
I also fundraised last fall and did a letter writing campaign to family and friends and raised over $25,000 - so our SDSF coffers are looking a lot better:) YAY! Let's all keep up the good work. I have been contact by many of you to talk about fundraising in your community and please know that you are doing a wonderful thing for not only your own family but for all of our SDS community around the world! Thank you!
I co-hosted another Rare Disease Day event on Feb 29th at our Massachusetts State House which brought a lot of awareness to SDS! (read below). The world spotlight is on rare diseases now and this is our time to capitalize on this attention.
I look forward to seeing many of you at Camp Sunshine in June! And for those we don't see, you can read about our doctor seminars and family fun in the next newsletter.
I urge you all to continue to turn to the web site and read our newsletters and email blasts, as we are always updating information about research, treatments, doctor database, interesting links etc.
With warm regards and peace,
Blair Van Brunt, President SDSF
CURRENT RESEARCH Proposals to SDSF
|SDSF puts out a request for proposals every year for researchers/scientists/doctors to apply for grant funding. This year the funding is $35,00 per year for 2 years given to the proposal that fits our guidelines and is approved by members of our Medical Advisory Board and our Executive Board.You can read about our process on our web site. |
This March we received 3 proposals from 3 different scientists which is very exciting. We usually get at least 2 but with all of the awareness of SDS in the research world now, I think that our disease is becoming more interesting to more researchers. Rare diseases are difficult to get researchers to study because there isn't usually much funding available for them. But there is a huge focus on rare diseases now in the commercial sector, at NIH (National Institutes of Health - our government's funding mechanism for medical research) and in the private sector and this bodes well for us.
We will keep you apprised of which proposal - if any - meet our scientific standards and strive to accomplish the goals that we are looking for.
Regional Contact Committee Conference Call
In January SDSF hosted it's first ever Regional Contacts Committee conference call. It was wonderful chatting with everyone and finding out what kinds of calls and questions they are receiving.
We shared comments and ideas of how we can better support our SDS community. I updated everyone on current issues and items that SDSF is working on as well.
I particularly want to remind everyone that we now have a
Consensus Statement that is available to everyone from our web site. This is an extremely useful document to take to your doctor - whether they have been working on SDS for years or are brand new to it - because it is a consensus of expert opinions from many members of our Medical Advisory Board along with other experts from around the country and the world. It includes consensus on diagnosis, treatment and management.
and feel free to call/email someone in your area. You may even live close enough to meet!! And if you see an area that isn't represented and you would be interested in being a contact, please contact me firstname.lastname@example.org
Another item discussed on the conference call was our doctor database. If we can refer doctors to each other, doctors who know about SDS or are willing to learn, we can really help ourselves and any future patients.
Check out our Doctor Database. The database lists doctors that support SDSF as members of our Medical Advisory Board and/or direct SDS/bone marrow failure clinics plus regional doctors who have been recommended by families like yours.
Are you looking for a specialist that can care for your SDS or SDS-like patient? Or perhaps need a second opinion?
Or do you have a doctor that you feel is excellent and: either knows about SDS or is willing to learn? Please feel free to submit their contact information to us so that we can add them to the database!
The information we need is below. Please fill out as best you can.
Doctor or Practice Name:
Specialty (Hematology, Gastroenterology, Orthopedics, Neuropsychiatric, pediatrician, etc):
Pediatric or Adult:
Email (if available):
Website (if available):
I want 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.
2 Interesting organizations to check out:
The Sibling Support Project
The Sibling Support Project is dedicated to the life-long concerns of brothers and sisters of people who have special health, developmental, or mental health concerns. This organization aims to increase the peer support and information available for siblings, parents, and healthcare providers of individuals with special needs through workshops, listservs, and other resources.
We Connect Now
The website was created when a young college student received a grant from YP4 to develop a website to serve college students with disabilities. The website was developed in an effort to connect and integrate college students with disabilities as a virtual community with a voice on important issues. The We Connect Now website has been up and serving college students
with disabilities since April of 2008.
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-
Mary Lionberger -no contact information available at this time. check back later.
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 official Facebook page!
Feel free to upload pictures of your kids, families, stories, videos, anything!!
Bailey Larkin - our family story
SPREADING THE WORD ABOUT SDS ON A NATIONAL PLATFORM:
BAILEY LARKIN NAMED CHILDREN'S MIRACLE NETWORK "CHAMPION CHILD" FOR THE STATE OF KANSAS!
Fifteen years ago I had never even heard of "Shwachman-Diamond Syndrome". Today I know more about SDS than I'd like to know about anything in this world. Additionally, I have been determined to spread the word and make sure others learn about SDS as well! I am the proud mother of three children, two of whom were diagnosed with SDS as young boys. Our diagnostic journey was a rough one, but thanks to "learning together" with our doctors we feel we have a handle on this thing.
Our story begins with Jordan, who will turn 16 next month. He was born a seemingly healthy, 8 pound baby, but quickly slid off the growth charts, labeled with "failure to thrive" by 4 months. By 6 months he had been hospitalized with pneumonia, RSV and other upper respiratory infections. The doctors were pretty sure he had Cystic Fibrosis despite negative sweat tests, as his Pancreatic tests came back showing insufficient. When the genetic tests for CF also came back negative, we turned to the national CF foundation who pointed us to researchers in Canada and something called SDS. They had us send DNA from all 4 of us at the time for diagnostic testing and the word came back that both Jordan and younger brother, Bailey, now 13 met the diagnostic criteria at the time for SDS. Further testing on bone marrow confirmed this diagnosis. Baby sister, Maya, who is now 10, has been healthy as a horse and despite collecting her cord blood at birth, was not a match for her brothers. Genetic confirmation has not come for us yet, but we're told we're in the right place as we deal with pancreatic insufficiency, bone marrow dysfunction, short stature, skeletal deformities and a whole host of other SDS-related issues. The boys have good periods and bad, averaging 3 hospital stays each per year to combat infections as they have near zero neutrophil chemotaxis, therefore don't fight things off without extra help. Learning all I can about this disease and educating others has become extremely important to me, as the more we all know, the better able we are to help those with this disease.
Our latest efforts in education and giving back have won my son, Bailey, the prestigious title of "Champion Child" for the state of Kansas for Children's Miracle Network, an international organization which raises funds specifically for children's hospitals. You may be familiar with their yellow and red, hot air balloon logos at various corporate fundraising events such as IHOP's "Pancake Day" or Dairy Queen "Blizzard Day". It is likely that many SDS families have received care at a CMN-supported facility. For my boys, Jordan and Bailey, that care has been provided primarily by The University of Kansas Medical Center in Kansas City, a CMN hospital.
As I have always been very supportive of any and all organizations who work to help my boys, it became important to me to volunteer in small ways to raise money for our local pedicatrics department via radio telethons, publicizing of events and public appearances / speaking engagements. KU Med has been so instrumental in providing the very best care for my sons over the course of their lives. The doctors and staff there have cooperated with researchers and gone above and beyond the call of duty to find out all they can about SDS and, as a teaching facility, educate a whole host of upcoming doctors about this complicated, rare disease of ours. Giving back to that program and helping similar children's hospitals all over the country is the least I can do. I have always seen it as an opportunity to raise awareness about Shwachman-Diamond Syndrome as well!
This Fall our family received an invitation from the local CMN chapter at KU Med, asking permission to allow them to nominate Bailey as the "Champion Child" for 2012 for the state of Kansas. As we saw this an an opportunity to raise both SDS awareness and money to help sick kids, we agreed. To our surprise and delight, Bay was indeed selected and has been crowned this title!
Bay's duties as CMN "Champion Child" for the state of Kansas will include numerous public appearances at fundraisers, photo opportunities, radio and television interviews, other public speaking events, numerous other activities, plus inclusion in an international book of champions which will include his personal story of SDS! The most exciting part of this role will include a week long trip along with ambassadors from other states to a national event in Washington D.C. and Orlando, FL where the group will raise awareness with public rallies, lobbying for funding for children's hospitals and participation in a number of nationally publicized events! We are told we should even get to meet the President of the United States! Our local CMN Director has told me that she believes having Bailey as a spokesperson with such a unique condition as SDS will be a two-fold blessing in that it will raise both awareness of his rare disease along with funds to help all sick kids served by CMN-supported hospitals. What an amazing opportunity to spread the word and bring SDS out into the light on a national stage!
I encourage and even challenge everyone in the SDS family to help spread the word in whatever way you're able, educating others about SDS, as you never know what audience you may end up reaching one day- perhaps even the ear of the leader of the free world, if even for a moment! Awareness equals hope for a cure!
By Nancy Carson, Mom to Jordan (15, SDS), Bailey (13, SDS) and Maya (10, "healthy as a horse") Larkin
About Children's Miracle Network: http://childrensmiraclenetworkhospitals.org/
Bay's "Crusaders" CMN fundraising page: http://www.helpmakemiracles.org/index.cfm?fuseaction=donorDrive.participant&participantID=105086&referrer=facebook
(Soon he will have his own blog to be able to share his SDS journey and record all of his exciting appearances and activities as Champion Child!- Don't have that info yet- stay tuned!)
Compassionate Allowance Program News
|Recently the national Organization of Rare Disorders(NORD) announced that the Social Security Administration was considering expanding their Compassionate Allowance program to include additional impairments and on behalf of all SDS|
patients, SDSF submitted Shwachman Diamond Syndrome for consideration. The SSA is responsible for administering two different programs to help individuals with disabilities, the Supplemental Security Income program and the Social Security Disability Insurance program. Both programs reference an
established listing of impairments that have qualified as disabling (i.e. are severe enough to prohibit substantial gainful activity for a duration of no less than 12 months.) Within that established list of disabilities is a smaller subset of impairments that are known to be chronically disabling and are identified for "compassionate allowances". The conditions on the compassionate allowances list in essence "fast track" qualifying for disability assistance. In October of 2011, the SSA added 13 additional conditions to the Compassionate Allowances list bringing it to its current total of 113 conditions. SDSF will continue to work towards ensuring that the SDS community is represented as a candidate for addition to the Compassionate Allowances list.
For additional information on the Compassionate Allowances program check out:
Compassionate Allowances Website Home Page - Social Security
Compassionate Allowances Conditions List
Compassionate Allowances 101 Powerpoint
ULTRA and FAST LEGISLATION
Unlocking Lifesaving Treatments for Rare Diseases (ULTRA) H.R. 3737 was first introduced by Rep. Cliff Stearns (R-FL) and Rep. Ed Towns (D-NY), two senior members of the House Energy and Commerce Committee, to improve access to the FDA's Accelerated Approval process for rare disease treatments by requiring the FDA to use the best science available, ensuring that treatments are safe and effective and reach patients sooner. More than 140 patient organizations signed on to support ULTRA and nearly 3000 people wrote their Member of Congress to support the legislation.
Because of the overwhelming support by the patient community, the goals of the ULTRA Act were retained while language provided by NORD helped to create H.R. 4132, the Faster Access to Specialized Treatments (FAST) Act, a larger bill that improves the Accelerated Approval process for all serious and life threatening diseases. The bill would enable drug manufacturers to request that their drugs that are in clinical trials with FDA and that are targeted to serious and life-threatening conditions and lack existing treatment options, receive Fast Track designation by the FDA. It would also provide greater flexibility in designing clinical trials involving any rare disease population. All of the FAST language has been included entirely into the House's draft Prescription Drug User Fee Act (PDUFA V) but the more support we have for the FAST Act, the better positioned we will be to keep all of that language in PDUFA. Please TAKE ACTION to Support FAST which must pass by the end of September.
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RARE DISEASE DAY 2012 - February 29 - at the Massachusetts State House
Approximately 125 patient advocates, biotechnology industry stakeholders and legislators gathered to mark the fourth annual Rare Disease Day at the Massachusetts State House on a snowy (practically the only snowy day this winter!) day in Boston. I partnered with the Massachusetts Biotechnology Council and selected a diverse panel of speakers that represented the many aspects of rare disease.
Speakers chosen included: Sen. Karen Spilka and Rep. Joseph Wagner, co-chairs of the Massachusetts Biotech Caucus; Dr. Alan Beggs, Director of The Manton Center for Orphan Disease Research at Children's Hospital Boston; Jose Carlos Gutierrez-Ramos, Senior Vice President and Head of the BioTherapeutics Research Group at Pfizer; Jonathon Connolly, 12 yr old patient with dystrophic epidermolysis bullosa; Blyth Lord, parent & founder of Cameron & Hayden Lord Foundation, a Tay-Sachs disease organization; Dr. Seng Cheng, Head of Research and Early Development of the Rare Diseases Division, Genzyme; and me,Emcee and 1st presenter, Blair Van Brunt-- Shwachman Diamond Syndrome Foundation.
|12 yr old Jonathan|
We had amazing speeches and the afternoon ended with our daughter, Gracie, and her boyfriend, Carlton, (pictured below) performing another of Gracie's original pieces entitled "Moving Forward, Alone we are Rare, Together We Are Strong". If you can't access this link, you can find it on YouTube and put in Gracie Van Brunt in the search bar.
We had a lot of very positive feedback about the event and I am looking forward to putting it together next year! In fact, I was just contacted by the National Organization of Rare Disorders who asked me to join them a their Partners in Progress Celebration gala in Washington, D.C. in May. They want to present me with their Power in Partnership award!!! Very exciting! My husband and I will be attending. They have also asked me to help them put together a "tool kit" for others who may want to organize a State House event. I am so very honored by all of this. And think how much press and awareness I'll be raising for SDS?? Lot's of FDA and NIH folks will be at the gala!
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. 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 (December 26, 2011 - March 25, 2012)
IBM Employee Services Center
Mr. & Mrs. Greenbery
American Tower Corporation
United Way of RI
Shwachman Diamond Project
In Honor of Gracie Van Brunt - Kemble O'Donnell, William Monroe and Many, many dear and wonderful friends and family
In Honor of Mitch Hall - Christopher Wood
In Honor of Joyce Fitz - Madison Elks Lodge #1465
In Honor of Collin Brown - Jeffrey & Carolyn Sullivan
In Honor of Chandler Davis - Linda & John Calvert, Leona Yocham, Jennifer Davis
In Honor of Michelle Mowery - Benjamin Hardy
In Honor of Sarah Kilby - Karen Krentz, Jacqueline & William Bishop
In Honor of Joe & John Wall - Kevin & Janice Roden
In Honor of Quinlan Matthiesen Kohn - Jeff & Gail Kohn
In Honor of John Michael Sample - Burrow & Maureen Brooks
In Honor of Mikel Dijak - Michelle Gardner
In Honor of Catrina Howard - Cartina Howard
In Honor of Tad Davidovich - Clark Construction Group
In Honor of Sydnie Ann Pike - Sandy Black
In Honor of Bodie James - Megan McAnany, Stephanie Elliott, Jeffrey Baliante, Maureen Eddy,
William Moore, Sonia Darmohray, MaryAnn Gramiak, Mary Kononenko, Elaine Luzeckyj, Vera Gramiak, Matt Falkenstein,
In Memory of Lyle Furney - Grace Dickinson
In Memory of Janice Canonico - Rose & Frank Canonico
In Memory of Dorothy Zotta and Beatrice Schlimgen - Robyn Roy
In Memory of Emily Ann McAbee - Kathy Ameno
WELCOME NEW SDS FAMILIES!!
Melbourne Beach, FL
Summer Shade, KY
Cape Girardeua, MO
| 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