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Dear Pamela,
I hope everyone had a fun summer, but summer is coming to an end, and with that, everyone is getting ready for another school year. I hope the kids are as happy to be going back to school as the parents are to see them go.
We attended the World Rare Drug Congress last month. It is a meeting that brings together government officials, drug companies willing to work with rare diseases, data and consulting firms, and patient advocacy organizations. Attendees came from all over the world. We presented a poster about SDS and it was very well received. Many of the over 1000 attendees viewed our presentation, asked questions, and offered assistance in their areas of expertise. We will also be attending the NORD (National Organization of Rare Diseases) Summit in October where we also will be presenting information about SDS as well as learning more ways to help our patients. It is very important to make SDS known to as many organizations and people as possible, as we are an extremely small disease group, especially compared to other rare diseases who can have as many as 100,000 patients.
Additionally, we are proud to say that there are several SDS research projects ongoing in areas of gene and drug therapy as well as other areas. I realize that research is very slow moving, but I, for one, am happy that these researchers are taking their valuable time to devote to helping our patients.
Please keep all of our patients who are having health issues in your thoughts and prayers.
Wishing you a lovely fall.
SDS Strong,
Joan Mowery
President
Shwachman-Diamond Syndrome Foundation
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COVID-19 Vaccine Information | |
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We have had many questions about whether or not the COVID vaccine is safe for our SDS patients. We asked one of our medical advisors, Dr. Kasini Myers of Cincinnati Children’s Hospital and this is her recommendation:
“The SDS registry continues to support vaccination and we are not aware of any particular concerns with the vaccine or complications specific to SDS but of course recommend patients and families discuss any concerns with their primary doctor who knows them best.”
So you can feel safe getting the Covid vaccine for your child if they are over 12 and your primary doctor has no concerns. Stay safe out there, everyone!
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Please let us know if your child is going to be transplanted. We would like to send them a gift to let them know we care. | |
Did You Get Your Copy of the SDS Glossary? | |
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Awesome Addie is SDS Strong
by Amanda Jacobs
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Addie's SDS journey started around the age of 9 months when she was correctly genetically
diagnosed with SDS. For us, hearing her diagnosis was devastating but it also provided a lot of answers as to her medical struggles. Addie has struggled with nearly every facet of SDS from thoracic insufficiency, pi, malrotation, aplastic anemia, feeding tube dependency, and she is also autistic. With her small rib cage, we consulted with the top VEPTR physician in the country, who was also the founder of VEPTR, Dr. Campbell at CHOP. At a year and half Addie started her VEPTR journey and it has not been an easy road. After the first rod insertion she suffered severe respiratory failure and ended up needing a trach and was ventilator dependent. She withstood a 5 month long grueling hospital stay where she ended up undergoing 5 major surgeries. She went into the hospital a happy bubbly talking 18 month old and left the hospital a bed ridden, non-verbal, extremely sick child that went home on a ventilator (with trach). It was a complete lifestyle change. I lost my job while I stayed bedside during the entire hospital stay and took another year off before I could return to work. Addie has nearly 24/7 in home nursing care, is seen between 2 hospitals by 10 different specialists between both.
Addie has gone from bed ridden, ventilator and trach dependent to a very active 7 year old that can run laps through the house, detached from being ventilated for over a year and decannulated from her trach which she had for over 5 years!! She has also attended kindergarten this past year, which she attended twice a week in a classroom with other children with disabilities and thrived! Addie is now working with a communication device that is assisting her in finding her voice, even though it may be electronically. Even though her journey is not complete, she has already overcome so much from the code blues, a year and half of narcotic withdrawal, kicked the vent and trach to the curb, and now is blossoming into a beautiful young girl with a bright and hopeful future.
Although SDS does not define her, SDSF and SDS families have provided our family with a tremendous amount of support and advice along the way. It is an amazing community that we are very proud to be a part of!
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I'm Michelle Pluta. I am engaged and have four children. I am a social worker who works with individuals who have disabilities. I am deciding whether to go back to school to be a pharmacy technician.
I have SDS, Shwachman-Diamond Syndrome, and I was not diagnosed until I was age 22. My hematologist was very thorough with the tests and monitored my blood. I also have pancreatic insufficiency. It is hard for my body to digest fats but my pancreas is depleting. My biggest frustration in life is my recurring migraines.
I live in Indiana. My number one goal in my life is to own a one level ranch style home with a little bit of land to put a RV on as well.
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How to Communicate About SDS and Our Children's Needs?
by Christian Del Ré
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September can be a time of anxiety in any home with the start of a new school-year. Kids are nervous, parents are nervous, and between battling to get back into school routines, we also have to worry about whether or not our child’s teacher knows what SDS is and what special needs have to be met each day . . .
For the past six years my wife has scheduled an appointment with the school principal, and before the start of the year, she meets with the administrative team as well as Anthony’s teachers to give them the SDS 101 talk and to go over what special considerations Anthony needs while in school . . . .
I have attached some of the documents we use each year; feel free to adapt and edit them for your own family. Here is also a check-list of important things you may want to do before the start of the school-year . . . .
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Thank you everyone for helping make SDSF Live such a success.
Our upcoming scheduled shows include:
- August 28, 2022 at 7:30 pm EST - Hematology 101 - Dr. Blanch Alter
- September 18, 2022 at 7:30 pm EST - GI Issues - Dr. Amit Grover
We welcome any suggestions for future shows. Please send any ideas to SDSFLive@shwachman-diamond.org
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Updates from the North American SDS Registry (SDSR), August 2022 | |
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SDS Registry investigators are collaborating with gene therapy experts to fix the SBDS gene as a new treatment for SDS.
To achieve this goal, we are collecting blood cells from adults aged 18-45 with SDS caused by mutations in the SBDS gene and the adult family members of SDS patients. These blood samples are used in the laboratory to develop effective gene therapy strategies for SDS.
The future goal is to develop gene therapy for SDS. Compensation is provided.
If you are interested in learning more, please contact the SDS Registry at SDSRegistry-dl@childrens.harvard.edu or Dr. Daniel Bauer at bauer@bloodgroup.tch.harvard.edu.
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Date and time
Saturday, September 17, 2022
1:00 PM – 5:00 PM EDT
Location
Online event
Please join us virtually and learn about the SDS registry.
SDSR Family Day is an opportunity for patients, families and loved ones to hear updates about SDS. This virtual conference will discuss topics important to both pediatric and adult patients with SDS and their families. Attendees may participate in group discussions with SDS experts on such topics as hematology, surveillance to maintain health, bone marrow transplant, genetics, gastrointestinal issues and nutrition, bone health, and others. SDS Registry investigators will share knowledge gleaned from the SDS Registry and discuss ongoing research to improve the health of people with SDS.
Agenda - Coming soon!
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Although we fight daily to save the lives of SDS patients and search for a cure, we must acknowledge those for whom a cure did not come in time. | |
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Click the button below to access the SDSF Swag Shop. We have a wide variety of SDSF merchandise to choose from. | | |
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The long awaited SDS Awareness Ribbons are custom made double layer ribbons to bring awareness to SDS. Each ribbon will arrive assembled with a gold pin attaching them.
Ribbons are $5 per ribbon, or 3 ribbons for $12. Domestic shipping is included.
There is only a limited quantity of these - act fast!
These are great to spread awareness! Fill out the form below to place your order.
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We know that this is a challenging time for so many. We are asking that if you set up an online fundraiser for a birthday or special event or if you order from
Amazon Smile, please set Shwachman-Diamond Syndrome Foundation as your charitable organization. Every little bit helps us fund research so help find a cure for SDS!
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Collins, MO
New York
Richmond, British Columbia, Canada
Molendinar, Queensland, Australia
San Bernadino, CA
Lancaster, PA
Cheshire, England
Walla Walla, WA
Pittsford, NY
Island of Mauritius
New Egypt, NJ
Philadelphia, PA
Ireland
Port Lexusstad, NC
Beverly Hills, New South Wales, Australia
Nowata, OK
Lincolnton, NC
Sinaloa, Mexico
Williamsport, PA
Asheville, NC
Israel
Ohio
Arezzo, Italy
Arizona
Miami, FL
Lancaster, PA
Allentown, PA
Breda, IA
Mokena, IA
Sydney, Australia
Landvetter, Sweden
France
Karachi, Pakistan
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Thank You For Your Donations | |
Donations received between April 27, 2022 - August 15, 2022 | |
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Stephen Johnson
Robin Ponce
Tag Sale Chick
Creative STEAM Kids
Amanda Swift
Dava Grammer
John Daniels
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PayPal Giving Fund
Your Cause
Facebook Fundraisers
United Way Greater Niagara
Benevity
Frontstream
Blackbaud Giving Fund
Charities Aid Foundation of America
Give Lively Foundation
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In Memory of John Olivo - Linda and Paul Isben
In Honor of Maggie Collins - Jeffery Clark School
In Honor of Matt Valiante - Deana Valiante, Judith Bushelow
In Memory of Craig Smith - Robert Smith
In Memory of Donabelle Liska - Vicki Walker, Carol Aldridge, Terri Snyder, Mary Jane Bowen, Heather Marshal and Family, Dona Tharp, Deb Howard, Frank Ornelas
In Memory of Jacob Reitenhauer - Julie Blood, Ken and Christine McAllister, Rhea Berger, Linda Larkin
In Honor of Jess Bodron, Camden Kilcrease, Sophie Pilgrim - Tim and Joni Bodron, PrecisionIBC
Special Thank You to the dozens of Anonymous and Unnamed Donors
Thank you to all those who did Birthday Facebook Fundraisers
The Many Supporters Through Various Other Facebook Fundraisers
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Thank you for your monthly donation
Indro Hoffmann
Maria Hall
Keung King Man James
Jason Huttinger
Angela Greiss
In Memory of Michele Mowery - Joan & Greg Mowery
In Honor of Camden Kilcrease - Lisa Kilcrease
In Honor of Jonathan and Joseph Wall - Joyce Wall
In Honor of Jake Walden - Julie Walden
In Honor of Wade Wachter - Jennifer Wachter
In Honor of Marissa Avroch - Dianne Moschetta, Rose Cannonico
In Honor of Scott, Meagan, & Jonathan Miller - Pamela Miller
In Honor of Riley Laber - Mary Balint
In Honor of Anthony Del Re - Christian & Gina Del Re
In Honor of Roman and Alex Fetzer - Jenny and Edna Arnold
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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. | |
Shop The SDSF Online Store | |
Did You Get Your SDSF Car Magnet Yet? Don't Have a Car - Put it On Your Fridge or File Cabinet. Spread Awareness - Start a Conversation. Click the Link Below to Get Yours and See What Other SDSF Merchandise We Have! All Proceeds Support Finding a Cure for SDS! | |
Shwachman-Diamond Syndrome Foundation | |
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FOUNDER: Joan Mowery 1994
BOARD OF DIRECTORS
Joan Mowery, President
Mary Balint, Secretary
Bryan Sample, Treasurer
Christian Del Ré, Communications Chair
Honey Denson, Patient/Family Education Chair
Orva Jurado, Tech Expert
Nicole Shen, Membership Chair
Carolina Cordova
Michelle Grenell
Savannah Lillywhite
Scott Miller
Pamela Miller, Executive Director
Other Amazing Leaders
Joyce Wall - Anna Angel Basket Coordinator
Maura Donahue - Advisor to the Board
ATTORNEY: Ann Bodewes Stephens, Herzog Crebs
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Have an article, update, or fundraising activity you would like to share in a future newsletter? Email your story to:
christiandelre@shwachman-diamond.org.
We would love to hear from you and share your stories!
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