Resources to raise awareness about Shwachman-Diamond Syndrome on the International Rare Disease Day. RARE DISEASE DAY 29 FEBRUARY 2024 29 February 2024 will be the 17th international Rare Disease Day coordinated by EURORDIS . On and around this day hundreds of patient organizations from countries and regions all over the world will hold awareness-raising activities. Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policymakers, public authorities, industry representatives, researchers, health professionals, and anyone who has a genuine interest in rare diseases. Watch and share our 2020 Rare Disease Day video, highlighting SDS! Rare Disease & SDS Infographic to share on social media! Available in English and Spanish, with French coming soon. Let us know if you would like to help with additional languages! To download, right-click on the image and click save. Rare Disease Day events to attend virtually (or watch later) US The White House: Rare Disease Forum Broad Institute of MIT and Harvard: Rare Disease Day 2024: Climbing Ladders to Cures in Rare Disease Research National Institutes of Health (NIH): Rare Disease Day Event US Food and Drug Administration (FDA): FDA's Rare Disease Day 2024—Dedicated to Patients and Providers More ideas to participate https://www.sdsalliance.org/post/sds-science-snapshots-2024-02-24 Official Rare Disease Day info packs Click on the icons to download the rare disease day info packs. 2020 2022

It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! Fundraiser October 2020 Meet The Team It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! With this fundraising campaign, we are raising funds to accelerate therapy and cure development for Shwachman-Diamond Syndrome, a rare genetic cancer predisposition disorder that affects thousands of children and adults world wide. Shwachman-Diamond Syndrome Alliance's mission is to accelerate therapy development and a cure for SDS - in particular to eliminate the deadly leukemia risk in SDS - in a time frame that matters to our children and thousands of SDS patients world wide. Our focus is research and development: we raise funds for the most cutting edge research, build collaborations globally, and invest into critical research tools and infrastructure, now. One million steps is certainly too much for any single person. But together, the steps add up. We can get there! Register above, and you will receive an email invitation to join the challenge and track your steps through Count.it.

Join our mailing list as the first step to join our Global Network and community. You will receive a personalized welcome email with resources, newsletters, and updates every 2-3 months. Join our Mailing List and Global Network We take your privacy very seriously. We never sell or share your information outside our organization, and only use your information to customize our communications to fit your needs. You can unsubscribe anytime by clicking on the link at the bottom of the emails, or by contacting us via email at connect@sdsalliance.org .

Patient Advocacy and Partneting Summit. The first, global, virtual event designed to engage all stakeholders and provide meaningful education and networking opportunities to patients, scientist, medical providers, industry representatives and regulatory stakeholders. POPS Global Patient Advocacy and Partnering Summit The first global, virtual, meeting of its kind to provide patients, caregivers, scientists, physicians, and all other stakeholders with an opportunity to connect and discuss all things related to Shwachman-Diamond Syndrome research and advocacy. REGISTER HERE! Registration is now closed. To access the recordings, log in to the meeting platform (below). For assistance or to request access, email Ashley Ferreira at outreach@SDSAlliance.org. Agenda Tentative, subject to change. All times in ET (New York Time) 10:00 AM - 11:00 AM Networking Breakout rooms with prompts to help build connections. All attendees and speakers welcome! 11:00 AM - 12:00 PM Welcome and Patient Stories Welcome by Dr. Eszter Hars ➲ Mother of an SDS Patient, President & CEO, SDS Alliance Featuring three SDS community members Gracie Van Brunt , Musician/Songwriter with SDS ➲ Lisa Superina , Mother of two children with SDS ➲ Julie Martindale , Mother of a teen son with SDS ➲ 12:00 PM - 12:20 PM Lunch Break See you back here in a few! 12:20 PM - 12:45 PM Reflections from the Scientific Congress The 10th International Scientific Congress on Shwachman-Diamond Syndrome took place this April in Cambridge, UK. Dr. Eszter Hars ➲ had the privilege to attend as a parent and will share with you a high-level overview of public information with context from published literature. We won't share any unpublished results or private discussions, of course. 12:45 PM - 1:45 PM Therapeutic Targets Introduction by Dr. Eszter Hars ➲ Featured Experts: Dr. Christian Brendel ➲ DNA Targeting and Gene Therapy Approaches Dr. Valentino Bezzerri ➲ RNA and RNA-Based Targeting Approaches Speaker TBD Protein and Ribosome Biogenesis Targeting Approaches 1:45 PM - 2:00 PM Coffee Break See you back here in a few! 2:00 PM - 2:40 PM How to make the Patient Voice count Overview by Dr. Eszter Hars ➲ Featured Expert: Dr. Alexandre Bétourné ➲ The Importance, Challenges, and Impact of Data Sharing in Rare Disease 2:40 PM - 2:45 PM Closing Remarks A summary of the Summit, with opportunities to get involved at every level. 2:45 PM - 3:30 PM Networking A fun activity for all to connect. All attendees and speakers welcome! Speakers In alphabetical order Dr. Alexandre Bétourné Alexandre Bétourné, Ph.D., Pharm.D., is Executive Director for the Rare Disease Cures Accelerator-Data and Analytics Platform initiative and previously served as its Scientific Director. Dr. Bétourné works with the RDCA-DAP team to expand its reach into new diseases areas accessing new data and enhancing C-Path’s relationships within the rare disease community. He holds both a PhD and a PharmD from the University of Toulouse in France, has three patents, and has written multiple papers that intersect with several different rare disease areas. Before joining C-Path, he led a team of senior U.S. scientists, CMC and regulatory consultants at a small company developing therapies for amyotrophic lateral sclerosis (ALS). Dr. Valentino Bezzerri Dr. Valentino Bezzerri is Principal Investigator, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata di Verona, Italy. His research interest is mainly focused on the molecular mechanisms underlying the pathogenesis of inherited bone marrow failure syndromes (IBMFS), specifically in regards to the Shwachman-Diamond syndrome. In addition, my group is investigating the effect of PTC-readthrough inducer drugs (e.g. ataluren) on the restoration of nonsense mutated SBDS gene expression and function. Dr. Christian Brendel Dr. Christian Brendel is Assistant Professor of Pediatrics at Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Harvard Medical School. Dr. Brendel’s research focuses on gene therapy for inherited diseases of the blood system. He contributed to the development and clinical translation of lentiviral gene therapies for X-CGD and Sickle Cell Disease, and his current research includes genome editing and the design of new delivery tools to make future gene therapies safer, more effective and accessible. Dr. Eszter Hars Dr. Eszter Hars, Mother of an SDS patient, and Founder/President/CEO/Science Director of the Shwachman-Diamond Syndrome Alliance. Dr. Hars holds a Ph.D. in Molecular Biology from the University of Medicine and Dentistry of New Jersey, where she studied cancer and leukemia. She has over 20 years of experience in scientific research and the biotech industry. As VP of Regulatory Affairs at CytoVera Inc., a lab equipment developer for hematopoeitic stem cell banking, Dr. Hars was in charge of regulatory approval of medical devices by the U.S. Food and Drug Administration. Dr. Hars has also managed business development as well as customer relationships at Quosa Inc., an information technology company, which was acquired in 2012 by Elsevier, the largest scientific publisher in the world. Currently, Dr. Hars is President of a biotech startup that specializes in developing new tools for various new therapies, including CAR-T cell cancer therapy and beta cell replacement therapy for diabetes. Dr. Hars has been engaged in SDS community building and volunteering wherever possible, since her daughter was diagnosed with Shwachman-Diamond Syndrome (SDS) in 2015. In 2020, Dr. Hars founded the SDS Alliance, a 501(c)(3) nonprofit organization. Through the SDS Alliance, Dr. Hars is dedicated to accelerating the development of new therapies for SDS. Julie Martindale Julie Martindale is the parent of Elijah, a 17 year old with SDS. Along with her husband Mark, they have raised 11 children, many who have medical complexities. Julie has worked to assure our children's stories are told and never forgotten. She holds a bachelors degree in psychology and two years advanced training in child welfare. Lisa Superina Lisa lives on Long Island, New York, with her husband and four daughters. Her two youngest daughters, Nora and Kayla, were genetically diagnosed with SDS after an extensive diagnosis journey - read their story, here. Lisa is a Special Education Teacher at Half Hollow Hills High School West in Dix Hills, New York. She has certifications from Birth-12th grade in Special Education, General Education, and English Language Arts and has a master's degree in Literacy. Lisa is passionate about helping the SDS community by supporting research and helping families advocate for their children. She jumped into action on the very same day her first child was diagnosed, raising funding, researching resources, and connecting with SDS families everywhere, and has not stopped ever since. Her drive and creativity have inspired countless other families to engage and she is an unstoppable positive driving force toward therapies and cures for people with SDS everywhere. In her role at the SDS Alliance, she helps find and support new SDS families, identify and offer new resources for families, and develop family educational materials and events. Gracie Van Brunt Gracie Van Brunt is a 28 year old singer/songwriter/topliner from Boston, MA. When she was two years old, she was diagnosed with a rare disease called Shwachman-Diamond Syndrome which affects her bone-marrow, skeleton and pancreas. There are an estimated 5,000 known cases world-wide. She spent the first 6 years of her life in and out of the hospital battling this illness and in 2019 received a bone-marrow transplant with her brother being her doner. Gracie started singing when she was 6 and writing when she was 12 and has written over 1,000 songs in her lifetime. After attending the prestigious Berklee College of Music and majoring in Songwriting for two years, she moved to Los Angeles to pursue her songwriting and vocal career. She is now cementing her place in electronic music with her ethereal, yet sultry vocals and infectiously catchy lyricism. The acclaimed singer, songwriter, recording artist and vocal producer has garnered over 4 million streams across multiple genres, emerging as one of EDM’s most versatile and highly sought after vocalists. With the electronic genre of Drum & Bass on the rise, she is leading the charge in spreading drum and bass across the states, with her massive collaborations with DNB icons like “Deep Blue” with Kanine, which has almost 2 million streams, and “Alone” with Culture Shock, which has almost a million streams along with her most recent collaboration, “Commencement” with Dubstep Legend, 12th Planet. Gracie’s 2022 live festival performances include Insomniac’s Beyond Wonderland, Project Z and Lost in Dreams Festivals, as well as Excision’s Lost Lands Music Festival. She also performed “Live For The Highs” with GAWM to a sold out crowd at Exchange LA located in Los Angeles, California. Gracie continues to be an advocate not only in the Shwachman Diamond Syndrome Community, but in the rare disease community in general appearing on patient panels, supporting families looking for guidance and sharing her story through her music. She is the recipient of the 2013 Rare Champion of Hope Patient Advocacy Award, has performed at many different Rare Disease Conferences and Galas including multiple times at the Global Genes Conference and is an advocate for all SDS patients. Dr. Alexander Betourne Dr. Velentino Bezzerri Dr. Christian Brendel Dr. Eszter Hars Julie Martindale Lisa Superina Gracie Van Brunt Dr. Alan Warren

Shwachman-Diamond Syndrome event from around the globe! SDS Community and Scientific Events Calendar September 2026 Today Sun Mon Tue Wed Thu Fri Sat 30 31 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 1 2 3 4 5 6 7 8 9 10 Upcoming Events Multiple Dates Global SDS Family Coffee Chat Mar 08, 2026, 3:00 PM – 5:00 PM Virtual event Monthly virtual get-together to build community and support. Share Details SDS PFDD Meeting (Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome) Jun 04, 2025, 10:00 AM – 3:30 PM Location is TBD The SDS PFDD meeting is a very special and unique opportunity for patients and families to come together and share our voices and stories with the purpose of accelerating research and improving care. The meeting is part of our "100 Voices to #CureSDS" campaign. Don't miss it! Share Details Community Webinar/Q&A about the SDS PFDD meeting planned for this summer Jan 23, 2025, 4:00 PM – 5:00 PM Zoom Share Details SDS POPS 2024: Patient AdvOcacy and Partnering Summit Oct 20, 2024, 1:00 PM – 5:00 PM https://www.sdsalliance.org/sds-pops The only global, virtual meeting of its kind to provide patients, caregivers, scientists, physicians, and all other stakeholders with an opportunity to connect and discuss all things related to Shwachman-Diamond Syndrome research and advocacy. Share Details Ask an Expert: Dr. Lisa McReynolds on Clones, Germline, and Somatic Mutations, and why they matter for SDS May 19, 2024, 2:00 PM – 3:00 PM EDT Virtual. Register at sdsalliance.org/cce Share Details SickKids 8th National Marrow Failure & Myelodysplasia (MFM) Patient and Family Virtual Conference Apr 13, 2024, 1:00 PM – 7:00 PM EDT free virtual event This meeting is for patients and families with bone marrow failure disorders and myelodysplastic syndrome, physicians, other health-care workers, fellows, residents and all others who are interested in the field. Children and adult patients are welcome. Share Details POPS: Global Patient Advocacy and Partnering Summit May 20, 2023, 10:00 AM – 3:00 PM EDT Virtual event The first global, virtual, meeting of its kind to provide patients, caregivers, scientist, physicians, and all other stakeholders access to the latest information on all things Shwachman-Diamond Syndrome. Share Details 10th International Congress on Shwachman-Diamond Syndrome Apr 18, 2023, 9:00 AM EDT – Apr 21, 2023, 1:00 PM EDT Robinson College, Cambridge, UK, Grange Rd, Cambridge CB3 9AN, UK This Congress is held every other year in different locations throughout Europe and North America. It is the only scientific congress dedicated to Shwachman-Diamond Syndrome. Due to the global Covid-19 pandemic, the event was postponed several times. Now scheduled for April 18-21, 2023! Share Details 4e journées des neutropénies (4th French National Neutropenia Days) Mar 24, 2023, 9:00 AM – 4:00 PM GMT+1 Paris, Paris, France Nous vous invitons aux 4e journées des neutropénies qui se tiendront les vendredi 24 et samedi 25 mars prochain. Share Details SickKids Canada - National MFM Virtual Patient and Family Conference Apr 30, 2022, 12:00 PM – 6:00 PM EDT Virtual The National Marrow Failure & Myelodysplasia program at SickKids Canada is pleased to invite you to this interactive meeting. It is an ideal opportunity to learn, network with other families and meet experts in the field. Share Details Fun-Run-Walk October 2020 Oct 24, 2020, 7:00 AM EDT – Nov 01, 2020, 11:00 PM EST Virtual run/walk, location of your choice It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! www.SDSAlliance.org/steps Share Details Postponed. New Date TBD. SDSF Family Conference at Camp Sunshine (ME, USA) Jul 12, 2020, 2:00 PM EDT – Jul 16, 2020, 10:00 AM EDT Camp Sunshine, Cosco, ME, USA, Cosco, ME SDSF (SDS Foundation) hosts a 6-day session at Camp Sunshine every other summer for SDS families to meet with each other and meet and learn from the top SDS experts in North America. Share Details Paint with us! Rare Disease Day Fundraiser for SDS, Metro Boston Feb 29, 2020, 2:00 PM – 5:00 PM EST Painting with a Twist, North Andover, MA, 10 High St, North Andover, MA 01845, USA SDS Alliance partnered with Painting with a Twist in North Andover to host a painting event as a fundraiser. Share Details SDS Registry Family Day in Boston, MA, US Sep 15, 2019, 8:00 AM – 4:00 PM EDT Boston, MA, Harvard Medical School Joseph B Martin Center 77 Avenue Louis Pasteur NRB 133 Boston, MA 02155 Celebrating the SDS Registry's 10th anniversary! Please join us for a complimentary day of education, connection, and fun! - Hear updates from the SDS Registry - Learn about exciting research - Discover cutting-edge clinical trials for SDS - Connect with other SDS families Share Details Past Events Multiple Dates Global SDS Family Coffee Chat Mar 08, 2026, 3:00 PM – 5:00 PM Virtual event Monthly virtual get-together to build community and support. Share Details SDS PFDD Meeting (Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome) Jun 04, 2025, 10:00 AM – 3:30 PM Location is TBD The SDS PFDD meeting is a very special and unique opportunity for patients and families to come together and share our voices and stories with the purpose of accelerating research and improving care. The meeting is part of our "100 Voices to #CureSDS" campaign. Don't miss it! Share Details Community Webinar/Q&A about the SDS PFDD meeting planned for this summer Jan 23, 2025, 4:00 PM – 5:00 PM Zoom Share Details SDS POPS 2024: Patient AdvOcacy and Partnering Summit Oct 20, 2024, 1:00 PM – 5:00 PM https://www.sdsalliance.org/sds-pops The only global, virtual meeting of its kind to provide patients, caregivers, scientists, physicians, and all other stakeholders with an opportunity to connect and discuss all things related to Shwachman-Diamond Syndrome research and advocacy. Share Details Ask an Expert: Dr. Lisa McReynolds on Clones, Germline, and Somatic Mutations, and why they matter for SDS May 19, 2024, 2:00 PM – 3:00 PM EDT Virtual. Register at sdsalliance.org/cce Share Details SickKids 8th National Marrow Failure & Myelodysplasia (MFM) Patient and Family Virtual Conference Apr 13, 2024, 1:00 PM – 7:00 PM EDT free virtual event This meeting is for patients and families with bone marrow failure disorders and myelodysplastic syndrome, physicians, other health-care workers, fellows, residents and all others who are interested in the field. Children and adult patients are welcome. Share Details POPS: Global Patient Advocacy and Partnering Summit May 20, 2023, 10:00 AM – 3:00 PM EDT Virtual event The first global, virtual, meeting of its kind to provide patients, caregivers, scientist, physicians, and all other stakeholders access to the latest information on all things Shwachman-Diamond Syndrome. Share Details 10th International Congress on Shwachman-Diamond Syndrome Apr 18, 2023, 9:00 AM EDT – Apr 21, 2023, 1:00 PM EDT Robinson College, Cambridge, UK, Grange Rd, Cambridge CB3 9AN, UK This Congress is held every other year in different locations throughout Europe and North America. It is the only scientific congress dedicated to Shwachman-Diamond Syndrome. Due to the global Covid-19 pandemic, the event was postponed several times. Now scheduled for April 18-21, 2023! Share Details 4e journées des neutropénies (4th French National Neutropenia Days) Mar 24, 2023, 9:00 AM – 4:00 PM GMT+1 Paris, Paris, France Nous vous invitons aux 4e journées des neutropénies qui se tiendront les vendredi 24 et samedi 25 mars prochain. Share Details SickKids Canada - National MFM Virtual Patient and Family Conference Apr 30, 2022, 12:00 PM – 6:00 PM EDT Virtual The National Marrow Failure & Myelodysplasia program at SickKids Canada is pleased to invite you to this interactive meeting. It is an ideal opportunity to learn, network with other families and meet experts in the field. Share Details Fun-Run-Walk October 2020 Oct 24, 2020, 7:00 AM EDT – Nov 01, 2020, 11:00 PM EST Virtual run/walk, location of your choice It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! www.SDSAlliance.org/steps Share Details Postponed. New Date TBD. SDSF Family Conference at Camp Sunshine (ME, USA) Jul 12, 2020, 2:00 PM EDT – Jul 16, 2020, 10:00 AM EDT Camp Sunshine, Cosco, ME, USA, Cosco, ME SDSF (SDS Foundation) hosts a 6-day session at Camp Sunshine every other summer for SDS families to meet with each other and meet and learn from the top SDS experts in North America. Share Details Paint with us! Rare Disease Day Fundraiser for SDS, Metro Boston Feb 29, 2020, 2:00 PM – 5:00 PM EST Painting with a Twist, North Andover, MA, 10 High St, North Andover, MA 01845, USA SDS Alliance partnered with Painting with a Twist in North Andover to host a painting event as a fundraiser. Share Details SDS Registry Family Day in Boston, MA, US Sep 15, 2019, 8:00 AM – 4:00 PM EDT Boston, MA, Harvard Medical School Joseph B Martin Center 77 Avenue Louis Pasteur NRB 133 Boston, MA 02155 Celebrating the SDS Registry's 10th anniversary! Please join us for a complimentary day of education, connection, and fun! - Hear updates from the SDS Registry - Learn about exciting research - Discover cutting-edge clinical trials for SDS - Connect with other SDS families Share Details

Resources for children to learn about and cope with Shwachman-Diamond Syndrome in fun and supportive ways Kids' Corner Presented by Ribo & Somi, the Ribosome Superheroes! Hello friends! This page is just for you, the kids in the SDS community. We have collected many fun videos and printables for you to learn about SDS, science, and the community. Have fun and keep on learning! Love, Ribo & Somi Downloadables &Printables Tip for parents: Do you have a kids' event coming up? A birthday party or a rare disease / SDS event at school? The Hero Kids in the Making Coloring Book and the Ribo & Somi Coloring Calendar are available printed and assembled. Check out the order links below. Allow at least three weeks for shipping and handling, or contact us for custom needs at connect@SDSAlliance.org . A coloring book with a lovely story written by an SDS dad and illustrated by an SDS child, to help replace fear of hospital and doctors' visits with fun, adventure, and imagination. Read more about how Elijah inspired his dad to write this story and how the coloring book came about, here . Download a printable PDF (English, letter size) version or order printed booklets, here . Other formats and printed copies are available upon request by emailing connect@sdsalliance.org . Please allow several weeks for printing and shipping. Now also in Spanish!!!! Download a printable PDF (Spanish, letter size) version or order printed booklets, here . Ribo & Somi's Coloring Calendar for coloring and learning We are seeking volunteers to help with translations into any languages not already done. New! The 2024 edition is available in English for download or in print, here: English (letter size) Other languages and formats are available by emailing connect@SDSAlliance.org Currently available: Español Français Magyarul Svenska Books From our friends at the Immune Deficiency Foundation, free download and/free hard copies available. Mixed Bag Videos Learn about DNA, genes, and chromosomes. This great video about DNA is also available in Spanish and Arabic. Learn about bone marrow, blood cells, and the immune system Learn about the digestive system, liver, and pancreas

We created a beautiful documentary film "Until There's a Cure" about the SDS journeys of four wonderful families, providing a new way for researchers and regulators to relate to and understand what it's like to live with SDS. The film had a significant impact at our EL-PFDD meeting. Now, we would like to expand the film by weaving in the story of a fifth SDS family, and shed light on what we as a community can achieve when we work together. Join us. SDS Documentary Film: Until There's a Cure We created a beautiful documentary film - titled "Until There's a Cure" - about the SDS journeys of four wonderful families, providing a new way for friends, families, researchers, and regulators to relate to and understand what it's like to live with SDS. Each story is unique, yet represents common experiences in the SDS community. The film had a significant impact at our EL-PFDD meeting . Now, we would like to expand the film by weaving in the story of a fifth SDS family, and shed light on what we as a community can achieve when we work together. We invite you to invest in this communication tool to inspire more people to help us accelerate our strategy and roadmap and reach our goal of clinical trials by 2030. Together, we can move mountains. To stay in the loop, subscribe to our mailing list . To invest in this work of art and to help advance our mission of giving SDS families more birthdays to celebrate, please consider making a gift today, or join our work as a monthly supporter. Thank you for your dedication to our community. For additional donation and fundraising tools, such as DAFs, Crypto, and personalized Fundraising Pages, please visit our donation page .

Resources related to Shwachman-Diamond Syndrome for patients' and their families Welcome to the Family You are not alone! This section of our website offers you - patients and their families - resources and support. Please use the menu on top. We are currently working on a comprehensive new patient guidebook, creating and updating information materials and brochures , and more tools for you to get empowered -- become an SDS expert, raise awareness, contribute your insights and experience, and more. Newly Diagnosed? What is SDS? Parent and Caregiver Resources The Science Behind SDS Adult Patient Resources Kids' Corner Patient & Family Stories Drive Research through SDS-GPS

It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! After six years of counting steps together — and proving that this community can move mountains, one step at a time — we are relaunching our annual fundraiser as Step Up to #CureSDS , coming spring 2027 and launching on Rare Disease Day! This will give you plenty of time to plan ahead, form your team, and get ready to step up together. Watch for details during SDS Action Week, November 1–7. Fundraiser October 2020 Step Up to #CureSDS Annual Global Fundraiser The Event for You, Your Friends, Family, and Colleagues to Have Fun and Support Research. November 1-7, 2025! Note: This event has passed, and we are planning the next one. Let us know if you prefer spring or fall! Stay tuned! Anywhere (Virtual or Local if You Choose) Join the SDS Alliance's annual "Million Steps Closer" fun-run challenge fundraiser, a virtual event every fall. Turn hope into action and take steps to #CureSDS - you can walk, run, crawl, roll, swim, or lean back and support those who do by making a donation. The steps (and fitness) counting challenges are managed through a free app and are optional (see below). Register here! Team T-shirts Start or Join a Team! Support Research! This fundraiser is a fun and uplifting way to join us and make a difference. As always, 100% of funds raised from the community go to SDS research and infrastructure to accelerate therapy development, following our roadmap . By participating in this event, you are playing an integral part in driving progress! Roadmap Start a Team to Amplify Your Impact! Invite your family, friends, neighbors, colleagues, or classmates to participate! Registration is free! See the instructions below to learn how you can set up a fundraising page for your child, yourself, or a loved one, and easily invite others to join in your fundraising efforts! Strat a Team Curious about past events? Check out the results of our 2024 , 2023, and 2022 Million Steps Closer to #CureSDS fundraiser! Watch Rebecca's Video on Fundraising Tips and Tricks This presentation was part of SDS POPS 2025. T-Shirts Get in the Team Spirit with Team T-Shirts! This year, you can choose between multiple designs. Design 1 celebrates the Million Steps fundraiser with a sneaker with wings Design 2 celebrates Global SDS Awareness Day and Action Week with a November 7 design Order by October 1st to receive it in time for the event! Both can be customized with your team name. Email us at connect@sdsalliance.org with your team name and color preference, and we will set up a custom campaign page for you to share with your team. Specify whether you would like to distribute the T-shirt yourself locally, of id team members should be able to order and get their purchase shipped to them. Order Design 1 Order Design 2 Email Us to Customize The Details When? November 1-7 Where? Virtual! Run/Walk/Roll wherever you like! Plus local events hosted by community members. What? Fun!!! Fundraise and Run/Walk/Roll in your community! Why? To build community and raise funds for SDS research! Register now! Join the SDS Alliance's annual fun run challenge fundraiser! This is a virtual event and will take place November 1-7, 2025, to coincide with the Global SDS Action Week and Awareness Day . Everyone is invited to turn hope into action and take steps to #CureSDS - you can walk, run, crawl, roll, swim, or lean back and support those who do by making a donation. The steps and run challenges - step counting, miles, and more - will be managed on the count.it app. Registered participants will receive detailed instructions on how to join and/or create teams via email in October. The main challenge will be step-counting during the week of the event. Let us know if you would like to see additional types of fitness challenges! Invite your family, friends, and neighbors to participate! Registration is free! See the instructions below to learn how you can set up a fundraising page for your child, yourself, or a loved one, and easily invite others to join in your fundraising efforts! As always, 100% of funds raised from the community go to SDS research accelerating therapies, with no overhead! This year, we continue expanding the toolbox for SDS research and start to seed fund drug screens and development as part of our roadmap . Through fundraising and donations, you will play an integral part in driving progress! How to participate: Step 1. Register Register for the 5 Million Steps Closer to #CureSDS fun run by a) setting up a personal fundraising page (team), or b) supporting the fundraiser of your loved one! To set up a personal fundraising page (also known as a team), simply click "Start a Fundraiser" on our fundraising campaign page , follow the instructions, and customize it with your own content! Everyone loves to see photos of your SDS hero! Pro tip: Add a link to your custom T-shirt campaign from step 2! To register by supporting the fundraiser of your loved one, simply make a donation in any amount to their team/fundraising page! You may have already received the direct link to their page from them. If not, you can find the teams on the main fundraising page . Step 2. T-shirts (optional) Order the event T-shirt to get into the team spirit. We have general event T-shirts (see above ), AND we can create custom T-shirts customized with your team name. If you are a team captain, contact us to get your custom T-shirts up and running. Order by 10/01 to receive them in time for the event, and allow extra time for shipping outside the USA. Step 3. Spread the word Share your fundraising page via social media and email and start raising funds for SDS research! Expand your reach by asking family and friends to set up their own fundraisers or promote yours! Increase Awareness! Post photos with your family/friends during the event and let us know who you are running for! Use hashtag #StepsToCureSDS on all social media platforms! Step 4. Walk/run/roll... During the week of November 1-5, hook up your favorite tracker to the count.it app (instructions will be emailed to you) and start taking steps (walk, jog, roll, dance,...) to #CureSDS. Most importantly, have fun! Step 5. Get Rewards Your fundraising efforts are so important and impactful toward accelerating research for therapies and cures, we want to thank you and reward you for your efforts. Raise funds on your fundraising page and will send you the following*: Raise $50: Get a canvas tote bag* Raise $500: Get a tote bag, plus an awesome insulated stainless water bottle* Challenge winners in each category will get bragging rights and both gifts* above! *Items are subject to change, and we will reach out to you first to confirm your shipping address, preferences, and size. ~~~~~~~~~ Questions? Email us at connect@SDSAlliance.org

It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! Fundraiser October 2020 STEPS Fundraiser 2023 October 1 -7, 2023 - virtual and local options Order your customized TEAM T-shirt or general event T-shirt by 9/15 to receive them on time for the event. (Allow extra time for shipping outside the USA). Welcome to the FOUR MILLION STEPS CLOSER TO #CURESDS fundraiser page. When? October 1-7th, 2023 Where? Virtual! Run/Walk/Roll wherever you like! Plus local events hosted by community members. What? Fun!!! Fundraise and Run/Walk/Roll in your community! Why? To build community and raise funds for SDS research! How? Register here ! With this fundraising campaign, we are raising funds to accelerate therapy and cure development for Shwachman-Diamond Syndrome, a rare genetic cancer predisposition disorder that affects thousands of children and adults worldwide. Shwachman-Diamond Syndrome Alliance's mission is to accelerate therapy development and a cure for SDS - in particular, to eliminate the deadly leukemia risk in SDS - in a time frame that matters to our children and thousands of SDS patients worldwide. Our focus is research and development: we raise funds for the most cutting-edge research, build collaborations globally, and invest in critical research tools (such as the mouse project) and infrastructure, now. Four million steps are certainly too much for any single person. But together, the steps add up. Together, we can get there! And just like that, the steps challenge is upon us! See the leaderboard in the count.it app or right here on this page. Instructions on how to join the steps challenge can be found below. Have fun and see you there! How to Join the Steps Challenge [A printable version of these instructions is available here ] Thank you for joining the Three Million Steps Closer to #CureSDS fundraiser by starting a fundraiser or making a gift. Now it’s time to get moving! In the time period between October 9th-14th, count your steps with your favorite device/app. You don’t have to buy a device if you don’t already have one! Most smartphones have built-in or free pedometers/step counting/fitness apps available, and using the leaderboard tool (Count.it) is free, too! How to Register to Participate in the Challenge The registration consists of either starting a fundraiser on our donation platform (here ) or making a donation on the same page. Please don't skip this step, as this is a fundraiser to support SDS research. Note: These instructions are automatically emailed to all registered participants. Please don't distribute these instructions to non-registered participants. How to join the Steps Challenge via Count.it We partnered with Count.it to power the challenge. The Count.it platform works with most popular fitness tracking apps, including Apple Health, Fitbit, Google Fit, Garmin, Strava, and RunKeeper. PRO TIP: iPhone users have Apple Health built-in. Most Android phones have Google Fit, or it can be downloaded here free of charge. How to join our #CureSDS Group on Count.it You can join our group (called #CureSDS) via the Count.it app or on the web. You can think of “group” sort of like an event. If you don't already use a fitness tracking app, it's great to get that set up first. Option A) Join via the count.it App! Download the count.it iOS app or Android app , click "Sign Up," and follow the prompts. When asked, click the "Join a Group" option. You will be prompted to enter our group invitation code. Group Invite Code: [f60c2a55]. Or, you can go back and click on your Group Invitation Link https://www.countit.com/invite?group=f60c2a55 again, and the count.it app should be able to add you to the correct group. Option B) Join on the Web! Simply click the invitation link https://www.countit.com/invite?group=f60c2a55 and follow the prompts to login or create an account if you are new to Count.it. If the link doesn't work, paste this URL into your web browser. Alternatively to the invitation code, you may be able to search or enter our group name. The group name is #CureSDS . How to join your favorite Team within the #CureSDS Group NOTE: Teams will only be available during the challenge period starting on October 9th!!! During onboarding, you will be prompted to join your team. Simply click the Join button to do so. If you don't see your team (which may happen at the beginning of the challenge period), don’t worry, you can join later. Your steps and other challenge contributions will add up to your team as soon as you join. To see all the Teams in your group, and join one, just go to your Settings >Teams page. All available Teams within our #CureSDS group are listed here, and you can join or leave simply by clicking the button to the right of the team name. Note for team captains: Our group allows "user generated" teams. You can create a new team by clicking the " + Add Team" link at the top right of the teams list. How to join the challenges NOTE: Challenges will only be available during the challenge period starting on October 9th!!! Once the challenges are active, your step counts will automatically be added up to the challenge and your team if you join one. You're done! Have fun! Since the event is virtual, there are plenty of safe options for observing any recommended COVID-19 precautions. You can even do the challenge at home. Questions / Comments? Contact us at the SDS Alliance: connect@sdsalliance.org or +1-617-329-1838. For technical questions, please first check out the Getting Started for Users and Count.it's General FAQ .

Living with Shwachman-Diamond Syndrome / SDS is hard. Find critical resources and community connections, here. This page is dedicated to parents and caregivers of SDS patients of any age. Parent & Caregiver Resources What is SDS? Talking to and Supporing Kids Parent and Caregiver Resources Financial Support Resources Connect: Peer Support & Communities The Science Behind SDS Participating in Research Podcasts about Rare Disease/SDS Talking to and supporting kids through the physical and mental challenges of SDS Talking to kids Explaining blood, bone marrow, and transplant This is an amazing education video published by our friends at the Fanconi Anemia Research Fund (FARF) about How to Talk to Children About Fanconi Anemia (FA). FA is a genetic bone marrow failure syndrome with many similarities to SDS, and most of the content of this video is directly applicable to the SDS community! It includes explanations about the blood, bone marrow, and transplant, and suggestions of HOW to talk to children about these topics. Ideas for supporting learning, cognitive, and behavioral challenges www.understood.org - A great resource to learn how to deal with executive functioning challenges and other types of learning differences. Useful for both caretakers, teachers, and people experiencing the challenges themselves. Here is an example of search results for executive functioning. Ideas for supporting children and their siblings Beads of courage Plus, check out our kids' corner with resources just for kids! Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey Toolkits by Global Genes Resources for parents and caregivers for themselves. (Put on your oxygen mask first). Parent resources Resources to deal with anticipatory grief and loss This resource sheet (PDF with links) and list with additional resources was put together by members of the Fanconi Anemia community and may be helpful to our SDS community as well. Sharing here with their permission. Inanacare : A great resource with webinars, blogs, and a podcast for caregivers. Their mission is to encourage, empower, and equip family caregivers with practical tools and supportive communities, so no caregiver does this alone. They have a free app, a podcast, and webinars as ways to support caregivers and provide practical resources. Connecting with SDS families in your area "who get it" Check out our peer-to-peer page Family planning discussions, including IVF We have a private Facebook group to support families going through IVF. Please contact us at connect@SDSAlliance.org to learn more. Financial and other support for medication and transporation Financial support Transportation Miracle Flights – Provides free domestic or international travel to U.S. facilities for medical treatment, second opinions, and follow-up for patients in need. Angel Flight – Arrange free air transportation for any legitimate, charitable, medically related need. This service is available to individuals, and healthcare organizations. Julia’s Wings – The Julia’s Wings Foundation (JWF) is a 501(c)(3) non-profit organization with the mission of providing assistance to families of children with the life threatening hematological disease General Health Well Foundation – Pedatric Assistance Fund Got Transition – Helps to improve the transition from pediatric to adult health care through the use of new and innovative strategies for health professionals and youth and families. Healthcare advocacy resources for patients: These are some organizations that specialize in helping patients navigate the US healthcare system to help them get access to insurance, specialists, medications, services, etc. We have no first-hand experience with these organizations, so please use sound judgment as you engage with them. Bone Marrow/Stem Cell Transplant Be the Match (National Marrow Donor Program) – Nonprofit organizations dedicated to creating an opportunity for all patients to receive bone marrow or umbilical cord blood transplant when needed. Bone Marrow and Cancer Foundation – Patient aid program that provides coverage for many costs associated with bone marrow, stem cell or cord blood transplant. BMT InfoNet – The BMT InfoNet Patient Assistant Fund (PAF) assists patients and caregivers with living expenses during treatment. Children’s Organ Transplant Association (COTA) – Provides fundraising assistance for children & young adults needing bone marrow transplants. Also advocates for marrow, organ and tissue donation DKMS: We Delete Blood Cancer – A non-profit advocacy group that works to raise awareness of the need for donors for hematopoietic stem cell transplantation, which people with blood cancers need for treatment. Information on frequently used medication Clinical decision guide by AvoMD for physicians for pancreatic enzyme replacement therapy (PERT) - patients can point their provider to this resource to optimize their care. Provided by Mission:Cure . CREON: https://www.creoninfo.com Medication copay assistance programs (US) CREON On Course support program - offers copay assistance and sometimes provides ADEK vitamins and nutritional supplements. [US only, as far as we can tell] Zenpep Z-Save Patient support program - - offers copay assistance and sometimes provides ADEK vitamins and nutritional supplements. [US only, as far as we can tell] Additional resources List compiled by NORD Medication Copay Assistance Progams (US)

Members-only page to access recordings and resources of SDS-POPS, the Patient AdvOcacy and Partneting Summit. The first, global, virtual event designed to engage all stakeholders and provide meaningful education and networking opportunities to patients, scientist, medical providers, industry representatives and regulatory stakeholders. SDS POPS Global Patient Advocacy and Partnering Summit The only global, virtual meeting of its kind to provide patients, caregivers, scientists, physicians, and all other stakeholders with an opportunity to connect and discuss all things related to Shwachman-Diamond Syndrome research and advocacy. Provide feedback about POPS 2024 Recording 2024 Table of Contents with Timestamp 6:07 Session I: Patient Stories 6:35 Eszter Hars (SDS Alliance): Introduction of our latest paper as a guide through today's meeting: From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development . 9:18 Eszter Hars (SDS Alliance): EL-PFDD Externally Led Patient-Focused Drug Development Meeting in planning! 11:36 Joyce Fitz (Patient Advocate and SDS Alliance Youth Ambassador): My Story 23:20 SDS Film Project Introduction and the Premier of its Trailer! 27:24 Levi Gershkowitz ( Filmmaker, Living in the Light): About the making of the film 35:30 Meet the families from the film: A discussion with Kassi and Erika Thompson (sharing Elijah's story); and Amanda Jacobs (on behalf of Melvin and Addie), moderated by Ashley Ferreira (Community Engagement, SDS Alliance). 1:07:00 Session II: The COSMOS of Research 1:08:45 Juliane Mills (Worldwide Clinical Trials): An Introduction to the Clinical Trials 1:25:04 Eszter Hars (SDS Alliance): Where to find clinical trials, and what is Clinicaltrials.gov? 1:26:38 An example of drug repurposing and clinical trials: Mavorixafor by X4 Pharma 1:29:05 Dr. David Fajgenbaum (EveryCure): An AI-based systematic approach to finding drug repurposing candidates 1:36:56 Dr. Daniel Bauer (Boston Children's Hospital): An update and vision for Gene Therapy for Shwachman-Diamond Syndrome 1:51:41 Dr. Vanessa Merker (Harvard Medical School and Mass General Hospital): Qualitative Research and its Impact on Health Outcomes (and Drug Development) 2:08:24 Dr. Sharon Savage (NIH, NCI): What are Natural History Studies? Insights from Telomere Biology Disorders 2:26:43 Session III: SDS Alliance Collaborations for Impact 2:28:16 Dr. Eszter Hars (SDS Alliance) & Dr. Steve Murray (Jackson Laboratory): Humanized Mouse Model for Shwachman-Diamond Syndrome (AKA Mouse Project I): An Overview of the Rationale and Splicing; and an Update on the Progress to Date . 2:57:11 Dr. Eszter Hars (SDS Alliance): Brief Introduction to a new project to Develop an iPSC-based Chimeric Mouse Model for Shwachman-Diamond Syndrome (AKA Mouse Project II) 2:58:50 Dr. Eszter Hars (SDS Alliance): US ICD-10 code D61.02 for Shwachman-Diamond Syndrome and its Success within just 12 Months 3:03:30 Dr. Eszter Hars (SDS Alliance): Progress in Diagnostic Rate and Speed. Increased Access through Newborn Screening (Genomics England; GUARDIAN study) and free genetic testing resources (Visit https://www.sdsalliance.org/sds-testing ) 3:09:57 Melanie O'Leary (Rare Genomes Project, Broad Institute of MIT and Harvard): A collaboration with Shwachman-Diamond Syndrome to Support Diagnosis through Whole Genome Sequencing. More at https://www.sdsalliance.org/rare-genomes 3:19:35 Katie Russell (Broad Institute of MIT and Harvard): Estimating Genetic Prevalence using Large Datasets on Variants; EFL1 Genetic Prevalence Study 3:29:40 Ashley Thompson (SDS Alliance) and Grace Lynch (MGH, Genetic Counseling Program): SDS LENS Study (Exploring the Lived Experiences, Needs, and Stories of SDS Patients and Caregivers) 3:39:10 Eszter Hars (SDS Alliance): Summary of opportunities to get involved! Bonus: SDS-GPS 3:44:14 Eszter hars (SDS Alliance): SDS-GPS (Global Patient Survey and Collaboration Platform) : Background, Overview, and Results! NOW OPEN FOR ENROLLMENT! Visit www.sdsalliance.org/sds-gps 3:55:48 Alexis Morgan (Geisinger): An Introduction to ClinGen, ClinVar, and Genome Connect, and our collaboration with Shwachman-Diamond Syndrome Alliance 4:09:30 Eszter Hars (SDS Alliance): What have we learned through SDS-GPS so far? A few highlights. Resources The full article: From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development Free genetic testing resources: https://www.sdsalliance.org/sds-testing Rare Genomes Project: https://www.sdsalliance.org/rare-genomes Probably Genetic: https://www.sdsalliance.org/probably-genetic Mouse Model I Kickoff Meeting Video: SDS Science SPOTLIGHT - The Humanized... More videos about SDS Science and the Key Concepts on our Science Page: https://www.sdsalliance.org/science Dr. Dan Bauer's full-length video on Gene Therapy for SDS Amy Doyle's talk about the experience of siblings of SDS patients and slide deck X4 Pharma's 4Ward Study Information: Website and Handout (PDF) Partners and Sponsors Our programs, including educational programs such as SDS POPS, are made possible through support from our donors, partners, and sponsors. Thank you for making this work possible! If you or your company would like to support our work through Sponsorships or Donations, please reach out to our development team at gifts@sdsalliance.org . 2023 Recording 2023 Table of Contents with Timestamp This was the first-ever global virtual patient summit for Shwachman-Diamond Syndrome, free to attend for the whole community. Welcome and Introduction 00:00 Welcome and Patient Stories: Dr. Eszter Hars, President and CEO, SDS Alliance, and mother to a child with SDS Patient Stories 10:48 Patient Stories: Gracie Van Brunt , Singer/Songwriter/Topliner, SDS Patient 24:04 Patient panel: Lisa Superina , Mother of two young kids with SDS 34:13 Patient Panel: Julie Martindale , Mother of a child with SDS, post-transplant Science Session 49:58 Science Session: Reflections Cambridge Congress 1:08:20 Therapeutic Targets 1:13:18 Therapeutic Targets: DNA and Gene Therapy: Dr. Christian Brendel (Boston Children's Hospital) 1:26:54 Therapeutic Targets: RNA-based and targeting Therapy: Dr. Valentino Bezzerri (University Hospital of Verona, Italy) 1:43:51 Therapeutic Targets: Protein targeting with small molecules: Dr. Alan Warren (Cambridge, UK) - recording of an earlier presentation Patient Voice and Data for Impact 2:11:19 Patient Voice and Data for Impact (Introduction by Eszter Hars, SDS Alliance) 2:19:49 Patient Voice and Data for Impact: Dr. Alexandre Betourne, Executive Director, RDCA-DAP Closing Remarks 2:48:53 Closing remarks: Dr. Eszter Hars Resources mentioned in the meeting SDS and Science learning resources for patients and families: https://www.sdsalliance.org/understan... Video about surveillance by Dr. Akiko Shimamura and Dr. Kas Myers the SDS Registry: https://www.sdsregistry.org/physician... The draft consensus guidelines from 2011 and other important references: https://www.sdsalliance.org/diagnosti... Webinar on GUIDs and patient identifiers hosted by RDCA-DAP: GUIDs and De-Identification Tools for... Joining the Global SDS Alliance Global Network: Join button on top of https://www.SDSAlliance.org To learn more about SDS-GPS and/or our cell biobank program: https://www.SDSAlliance.org/sds-gps To support our work, visit https://www.SDSAlliance.org/donate More information about our mouse project: https://www.sdsalliance.org/post/sds-... https://www.sdsalliance.org/post/mous... https://www.sdsalliance.org/post/mous... For professionals, see a list of available research tools here: https://www.sdsalliance.org/research-...