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Your support helped us create and publicise the patient voice and research tools and infrastructure to enable and accelerate tehrapy development for Shwachman-Diamond Syndrome. Here are some highlights. SDS Alliance Publications Your support helped us create and publicise the patient voice and research tools and infrastructure to enable and accelerate tehrapy development for Shwachman-Diamond Syndrome. Here are some highlights. Publications in Peer Peviewed Journals From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. Hars ES, McReynolds LJ.Clin Pharmacol Ther. 2024 Dec;116(6):1377-1380. doi: 10.1002/cpt.3393. Epub 2024 Jul 22.PMID: 39039619 Click here for context Posters & Presentations at Scientific Conferences Our poster on SDS-GPS at the International Scientific Congress on Shwachman-Diamond Syndrome in Cincinnati, OH, June 2025. Publications about us and our work Case Study about our work and impact, published as part of the Chan Zuckerberg Initiative, Rare as One, Impact Report . Published online October 2025.

Swag is a fun and easy way to show your support while and raising funds and awareness. We strive to make it easy and attractive with items you will be proud to show off and help you feel part of a passionate committed community lased focused on making #CureSDS a reality. Shop for SDS Alliance Swag Swag is a fun and easy way to show your support while raising funds and awareness. It is also a fantastic opportunity to build community and work together towards our shared mission. We strive to make it easy and attractive with items you will be proud to show off and help you feel part of a passionate and committed community laser-focused on making #CureSDS a reality. We are continuously working on expanding our offerings. Please check back often and let us know if you would like to see specific items by emailing us at community@SDSAlliance.org or reaching out on Facebook. Our vendors can ship internationally. However, there may be extra charges and delays with shipping. If you are looking to get merchandise printed for an SDS Alliance fundraiser but closer to home, we are happy to share the design files. Simply email us at community@SDSAlliance.org . Shirts and more at our BONFIRE Store Available year-round. Visit www.bonfire.com/store/CureSDS Need Flyers, Brochures, and more for your next fundraising event? We are here to help. Email us at connect@SDSAlliance.org if you need hard copies. Flyer: What is Shwachman-Diamond Syndrome Personalized fundraising tools , such as flyers, cards, and fundraising web pages! We are here to help! Email us at connect@SDSAlliance.org .

Shwachman-Diamond Syndrome Alliance (SDS Alliance) news SDS Alliance News Project PACER: Building Shwachman-Diamond Syndrome Education Together Take our 5-minute survey to shape Project PACER - a comprehensive Shwachman-Diamond Syndrome education manual and course. Co-created by patients, caregivers, and medical experts. PCORI-funded initiative. SDS Learning Resources 2 days ago 2025 Impact Report: How the SDS Community Is Advancing Research Toward Therapies Read the 2025 SDS Alliance Impact Report to see how patient voice, research strategy, and collaboration are advancing therapies for Shwachman-Diamond Syndrome. SDS Alliance News Jan 9 Introducing Monthly Giving Allies: How Small Monthly Gifts Help Accelerate SDS Research and #CureSDS Learn how the SDS Alliance’s Monthly Giving Allies program helps fund research, support therapy development, and build momentum toward clinical trials for Shwachman-Diamond syndrome (SDS). Even small monthly donations make a meaningful impact. SDS Alliance News Nov 8, 2025 SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome. We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. SDS Alliance News Jul 27, 2025 FDA provides positive feedback on the SDS EL-PFDD meeting, valuing the Patient Voice Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, and other stakeholder. SDS Alliance News Jul 16, 2025 Reflections from Cincinnati 2025 and impact of the patient voice Our reflections. Cincinnati hosted two key events for SDS in June 2025: the SDS PFDD meeting and the International Scientific Congress on Shwachman-Diamond Syndrome SDS Alliance News Jun 23, 2025 SDS Patient LENS Study Now Open Apply today. SDS Alliance open a new qualitative research study -- the SDS Patient LENS Study -- to understand the unique lived experiences, SDS Alliance News Feb 1, 2025 Register for Community Webinar and Q&A to prep for SDS PFDD Meeting Join the community webinar and Q&A session to learn all about the EL-PFDD meeting on Shwachman-Diamond Syndrome and get answers about it all SDS Alliance News Jan 18, 2025 Amazing Opportunity to Share SDS Patient Perspectives with FDA: EL-PFDD Meeting Planned June 4th, 2025 Be a Speaker/Panelist! The FDA has accepted our request to hold an Externally-Led Patient Focused Drug Development Meeting for SDS on 6/4/25 SDS Learning Resources Jan 7, 2025 SDS-POPS 2024 Recordings and Resources Now Available! SDS Alliance Blog 2024-12-08 In this issue: SDS-POPS 2024 covers a wider range of topics, including SDS patient voice, stories, film, and advocacy, and SDS research and SDS Learning Resources Dec 8, 2024 SDS & Science Snapshots (2024-11-02) In this issue: The SDS Alliance team is ready for Global SDS Awareness Day and Action Week! A recap of the CZI Science in Society meeting. SDS Learning Resources Nov 3, 2024 Announcing the Winners of the 2024 Million Steps Closer to #CureSDS Challenge In this issue: The results of the 2024 Million Steps Closer to #CureSDS Challenges are in! SDS Alliance News Nov 2, 2024 Celebrating Inaugural Global SDS Awareness Day and Action Week: November 1-7 In this issue: SDS Alliance raises awareness about Shwachman-Diamond Syndrome and inspires action in the community SDS Alliance News Nov 2, 2024 SDS Alliance shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. SDS & Science Snapshots (2024-10-26) In this issue: SDS Alliance shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. SDS Learning Resources Oct 12, 2024 New Publication by the SDS Alliance Highlights SDS as a Therapeutic Target. SDS & Science Snapshots (2024-08-17) New Publication by the SDS Alliance. From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Dev SDS Learning Resources Aug 17, 2024 Free Genomic Sequencing for SDS through New Collaboration with Rare Genomes Project. SDS & Science Snapshots (2024-07-13) In this issue: New research genetic testing opportunity for individuals suspected to have SDS! SDS Learning Resources Jul 13, 2024 SDS Alliance Presents at the International INNOCHRON Scientific Meeting. SDS & Science Snapshots (2024-04-20) In this issue: SDS Alliance highlights the patient voice at the international INNOCHRON meeting in Greece! Welcome to our timely updates... SDS Learning Resources Apr 20, 2024 How Elijah inspired Hero Kids in the Making - an SDS Story from the US I wanted my son to see himself as a brave hero overcoming his reasonable fears associated with the pain and uncharted aspects of his medical SDS Patient Stories and News Feb 11, 2024 Osmosis Video on Shwachman-Diamond Syndrome Receives over 4K Views within a Month of Publication Huge SDS advocacy and awareness win: Osmosis video on Shwachman-Diamond Syndrome receives thousands of views, with millions more to follow SDS Alliance News Dec 2, 2023 2023 Annual Global Virtual Fundraiser - 4 Million Steps Closer to #CureSDS - Huge Success This October, we conducted the 4th annual global virtual fundraiser to support SDS research. The theme this year was 4 MILLION STEPS... SDS Alliance News Oct 21, 2023 SDS Community Represented at the Chan Zuckerberg Initiative's Science and Society Meeting This September, we took to opportunity to introduce the Shwachman-Diamond Syndrome community at the Chan Zuckerberg Initiative (CZI)... SDS Alliance News Oct 9, 2023 Shwachman-Diamond Syndrome Receives ICD-10 Code, Paving the Way for Improved Care and Therapies Shwachman-Diamond Syndrome receives new ICD-10 Diagnostic Code, Paving the Way For Improved Patient Care and New Treatment Options. Code... SDS Alliance News Aug 8, 2023 SDS & Science Snapshots (2023-01-14) In this issue: Comprehensive review article on bone marrow surveillance of SDS patients by Drs. Shimamura and Reilly; and a recap of ASH... SDS Alliance News Jan 15, 2023 SDS Cell Biobank Pilot Project a success! After the successful launch of the mouse model project last year and advancing it to phase two this year, we have expanded our efforts to... SDS Alliance News Dec 11, 2022 SDS Alliance Meets with the FDA Dr. Eszter Hars (SDS Alliance president and CEO) joined the FDA CBER OTAT Patient-Focused Drug Development Listening Meeting. SDS Alliance News Dec 3, 2022 2022 Annual Global Virtual Fundraiser - Three Million Steps Closer to #CureSDS - Huge Success Again This October, we conducted the third annual global virtual fundraiser to support SDS research. The theme this year was THREE MILLION... SDS Alliance News Oct 22, 2022 SDS Alliance meets with the White House Cancer Moonshot Team September 30th is Rare Cancer Day. We marked the day by taking action and meeting with the White House Cancer Moonshot initiative in... SDS Alliance News Oct 4, 2022 SDS Alliance is Awarded JumpStart Grant for iPSC Development We are so honored and excited to announce that we won the JumpStart Research Tools Matching Grant through The Orphan Disease Center (ODC)... SDS Alliance News Sep 8, 2022 Mouse Model Project Update: Phase I complete! We are happy to report that Jackson Laboratory has completed the first phase of the project. They have created mice in which a large segment SDS Alliance News Aug 29, 2022 Dr. Eszter Hars chosen by The Milken Institute to join FasterCures LeaderLink Program SDS Alliance’s President and CEO, Eszter Hars Ph.D., has been chosen by The Milken Institute to join the FasterCures LeadersLink Program.... SDS Alliance News Apr 23, 2022 Introducing Ribo & Somi, the RIBOSOME Superheroes The last day of February is Rare Disease Day, but for us - rare disease families and advocates - every day is rare disease day. But no... SDS Alliance News Feb 2, 2022 Our Team is Growing: Welcome Lisa Superina as our new Family and Community Engagement Ambassador. Lisa lives on Long Island, New York, with her husband and four daughters. Her two youngest daughters, Nora and Kayla, were genetically... SDS Alliance News Jan 29, 2022 SDS Alliance Awarded Chan Zuckerberg Initiative “Rare As One” Grant Woburn, MA (November 3rd, 2021) — The SDS Alliance is delighted to announce that the organization has been awarded a prestigious grant... SDS Alliance News Nov 3, 2021 2021 Annual Global Virtual Fundraiser - Two Million Steps Closer to #CureSDS - Huge Success At the end of September, we conducted the second annual global virtual fundraiser to support SDS research. The theme this year was TWO... SDS Alliance News Oct 10, 2021 Elevating Shwachman-Diamond Syndrome's Standing From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the incredible honor to be invited to speak at the 2021 Global Genes RARE... SDS Alliance News Sep 30, 2021 Bringing Shwachman-Diamond Syndrome to the Forefront From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the great honor to be invited to speak on a patient-centered panel at the NICER... SDS Alliance News Sep 25, 2021 Mouse Model Project: Meet the Scientists! From the Founder, Dr. Eszter Hars Dear SDS community, I am so excited to have been able to launch this project. To recap: This project is... SDS Alliance News Jul 7, 2021 Advocating for SDS Research at Rare Drug Development Symposium This week, I had the great honor to present at the 2021 Rare Drug Development Symposium, hosted by Global Genes and the UPenn ODC. SDS Alliance News Jun 13, 2021 The SDS Alliance Launches Mouse Model Project with The Jackson Laboratory SDS Alliance has just launched a project with The Jackson Laboratory to develop an SDS mouse model—the key first step toward a cure for SDS. SDS Alliance News May 29, 2021 A Cure for SDS: Our Mission From the Founder, Dr. Eszter Hars “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world... SDS Alliance News Jan 15, 2021

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

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 Connect: Peer Support & Communities The Science Behind SDS Participating in Research Financial Support Resources Podcasts about Rare Disease/SDS New: Monthly Virtual Community Calls: 2nd Sundays, 3pm ET (12pm Los Angeles, 3pm New York, 8pm London, 9pm Paris) Register at www.SDSAlliance.org/coffee 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 https://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 th eir 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 resources 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 though 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)

Access no-cost genetic testing and other diagnostic tools, here. Rare Genomes Project Timely and accurate diagnosis of SDS is critical for patients to access optimal care, education, and community support. We have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are. This page is dedicated to our partnership with the Rare Genomes Project to provide access to Whole genome Sequencing on a research basis, to US residents. Learn more in our announcement , including the difference between whole exome sequencing (WES) and whole genome sequencing (WGS). If this program doesn't work for you, please check out our other resources or email us at connect@SDSAlliance.org . Overview We are excited to announce our new collaboration with the Rare Genome Project. It is a free and remote research program using genomic sequencing to look for the genetic cause of rare diseases, such as Shwachman- Diamond Syndrome (SDS). Eligible families will be asked to provide a blood sample and medical information. If a result is found, we will work with your doctor to confirm the result. Note: This research process takes longer than routine genetic testing and not all families will have a result identified. Eligibility Have a clinical suspicion for Shwachman-Diamond Syndrome, including a history of two or more of the following symptoms: Exocrine pancreatic insufficiency (EPI) : Decreased pancreatic enzymes (serum trypsinogen or pancreatic isoamylase), decreased fecal elastase, malabsorption, or steatorrhea Hematologic abnormalities : Cytopenias including neutropnia , hypocellular bone marrow, bone marrow failure, or MDS/AML Skeletal dysplasia : Rib cage/thoracic abnormality, metaphyseal dysostosis, extremity abnormalities, scoliosis, or abnormal bone density Have a suspected genetic cause that has not been identified due to prior testing being negative or inconclusive OR a lack of access to genetic testing. This means that patients who have received genetic testing previously ARE eligible to participate, as long as prior testing has not yielded a diagnosis. Live in the United States A "history of" means that these symptoms may have happened in the past and resolved by the time testing is considered. Patients should still be tested for SDS even if symptoms have already resolved, or were very mild. Learn more or apply Contact the Rare Genomes Project team directly Phone: (855) 534-4300 Email: raregenomes@broadinstitute.org Web: www.raregenomes.org Download the IRB approved flyer (English or Spanish) below!

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.

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 .

A NEW virtual support group, to offer connections and science updates to the SDS patient and family community. Please email ehars@SDSAlliance.org if you'd like to join, as we are trying to work out the best schedule for everyone!

In 2023, Shwachman-Diamond Syndrome was assigned code D61.02 in the US ICD-10 coding system. This is the first time and place SDS has a unique and specific code. Read all about it here. ICD-10 and other coding for SDS: All you need to know What is ICD or an ICD-10 code? "ICD" is short for the "International Statistical Classification of Diseases and Related Health Problems." Globally, it's the go-to classification system in healthcare, used by government bodies and researchers for monitoring and reporting various health issues, from diseases to injuries. Overseen by the World Health Organization (WHO), the ICD system has a history that stretches back to 1893, having evolved through 11 major updates since then. While the US and another 150 countries utilize ICD-10, the WHO has released the next revision, ICD-11, in 2022. However, each country transitions to new ICD editions at its own pace, sometimes taking years for full integration. Notably, although WHO finalized the ICD-10 in 1992, the US only adopted it in 2015. We anticipate that the US will stay on ICD-10 for many more years to come, as there is a huge administrative burden with the transition and no fixed deadline for its adoption. Up until now, SDS did not have its own code. SDS was basically invisible to the healthcare system...as if it didn't exist. As announced in this press release , this will soon change. Through a two-year effort by the SDS Alliance and its partners, the new ICD-10 code for SDS (D61.02) will go live in the US on October 1st, 2023. Whenever someone goes to the doctor with an issue, the provider's team will enter their symptoms and diagnoses into the ICD coding system that precisely - or as precisely as possible - defines what is wrong. Insurance companies use these codes to help determine coverage for interventions provided. The codes also make it into large databases - but without personal patient information such as their name or contact information to protect their privacy. These large databases allow researchers to search the data to answer various health-related research questions. Why do we need a code for SDS? To understand the importance of having a unique and specific code for SDS, and since it's summer, let’s think through an example. Let’s imagine you have SDS. It is a beautiful Saturday afternoon on a warm summer day, and you are enjoying an outdoor BBQ party with your friends and family. You apply your favorite mosquito repellent and are wearing long sleeves, but a nasty mosquito gets you anyway. The next day, the bite starts to hurt, swell and feel hot. It is now Sunday, so you decide to go to the ER to get it checked out. You receive a thorough exam, workup, and blood tests. Sure enough, the medical team there determines that it is cellulitis and that you need antibiotics. You go home with your doctor’s orders and make a full recovery within a few days. The staff at the hospital enter several codes into your medical record for billing purposes, such as a code for the ER visit, CBC with differential, blood cultures, blood pressure monitoring, neutropenia, cellulitis, and antibiotics. But no code for SDS - the root cause of the issues -, as there was none available. Now let’s imagine a researcher who wants to perform a scientific review of how often SDS patients visit the ER or how often they get cellulitis from mosquito bites. Without an ICD-10 code specific to SDS, the researcher can only search the databases for the symptoms and interventions as they were coded, such as cellulitis, neutropenia, CBD with diff, and antibiotics, but not the root cause of these issues (which is SDS). None of these codes, nor their combination or clever filters, are specific enough to pinpoint an SDS patient. Not even close. We have tried it ourselves and even consulted with a biotech company to try to find meaningful data and make it work. So the researcher cannot answer any such research question related to SDS, without an SDS-specific code. Now imagine how this will play out in the near future once the ICD-10 code for SDS (D61.02) goes into effect on October 1st, 2023, and gets wide-ranging use in the healthcare setting. More on this below. The researcher will easily be able to find data for their research on things like: How often do SDS patients use the ER? How often do they get cellulitis from mosquito bites? How were they treated? What was the outcome? Admission rate? Associated conditions or correlations with other symptoms? Where were they seen? And so on. The ICD-code resource by the Everylife Foundation further explains: “As described by the WHO, maintenance and use of this standard classification systems allows for: Easy storage, retrieval and analysis of health information for evidenced-based decision-making Sharing and comparing health information between hospitals, regions, settings and countries Data comparisons in the same location across different time periods. Consider the power of understanding which types of medical specialties are diagnosing a particular rare disease or having the ability to track changes in patients’ health outcomes after a new therapy is approved for their disease. A payer’s medical policy decisions for a new therapy might be based on an assessment of how many individuals covered by their plans have a particular diagnostic code in their record. These are the types of queries made possible through ICD codes. They are also the types of assessments that can be distorted by imprecise or out-of-date codes.” And that is why we need YOUR help! Please read on. What can YOU do to help? To achieve the benefits described above, it is critical that doctors, other healthcare providers, and their teams use the SDS code (D61.02) every time they see an SDS patient. We have developed a tool kit (below) to help you spread the word. Patients can help by telling all their healthcare providers about the new code, and encouraging other SDS families to do the same. We developed a toolbox to make it easy: Share this webpage (www.sdsalliance.org/icd) with all healthcare providers who encounter SDS patients, or print this flyer and hand it to them. This includes the patient's primary care doctors, specialists, and other important healthcare providers such as nutritionists, PT, OT, SLPs. Order your FREE promo toolkit including sticky notes (here ) and hand them to all your healthcare providers at all upcoming appointments. Share this information with all US SDS families, for example, by sharing our social media posts and this webpage. Ask your healthcare providers to spread the word to their colleagues, too. Fill out this emergency form (coming soon) and carry it with you in case of emergency. It is designed to help you all relevant information about the patient, plus the new code. Healthcare providers can help by: using the code for their SDS patients at every healthcare encounter sharing this information with their networks using the sticky notes available free of charge (here ) to notify their coding team New T-shirts for ICD-10! Here is an extra fun way to share the news and spread the word. And it supports research at the same time. Do you need a new fun shirt for your upcoming doctors appointments of SDS meetup? Look no further! Exclusive at www.bonfire.com/icd-10 and at our Bonfire store . How did the SDS Alliance and its collaborators make this happen? First, it is important to acknowledge that given the importance of ICD codes, the process for updating codes – by design – is evidence-based, deliberative and thorough. Those who oversee the coding system must balance the needs of individuals and organizations seeking to revise codes with the integrity of the coding system as a whole. The path to obtaining a new code for a previously unclassified disorder involves a long and challenging process. In the US, the CDC’s ICD-10 Coordination and Maintenance Committee selects proposals for live presentations either at its headquarters in Baltimore or virtually twice a year. In December 2021, the SDS Alliance, aided by Medical Advisory Board member and NICER consortium director Dr. Kelly Walkovich, University of Michigan, C.S. Mott Children's Hospital, along with collaborator Dr. Alison Bertuch, Texas Children's Hospital and Baylor College of Medicine, submitted a proposal for a new code. Their proposal was then selected for presentation at the March 2022 meeting. During the public comment period that followed, major organizations such as the NIH iBMF study, the American Society of Hematology, the Leukemia and Lymphoma Society, AA/MDS, and The American Society of Pediatric Hematology/Oncology, submitted letters of support. The new code was officially accepted in July 2023 and will be active starting October 1st, 2023. The SDS Alliance credits Dr. Terry Jo Bichell from COMBINEDBrain for her guidance and support throughout the effort. More information on our partners and collaborators and the impact of the ICD-10 code are availab le in this press release . What does the letter and number of the code mean? The ICD-10-CM is highly structured and specific codes must conform to tightly managed classification conventions and go through a rigorous system to make any changes or additions. The diagnosis coding system itself is divided into two parts: Alphabetic Index: An alphabetical list of terms and their corresponding code. In the case of SDS, the code is under Chapter 3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89). This is where the D in D61.02 comes from. Tabular List: A structured list of codes divided into chapters based on a body system or condition that contain categories, subcategories and codes that use a combination of letters and numerals to create unique identifiers. The ICD-10-CM uses an indented format for ease of reference. Categories: Three characters – a letter followed by two numerals. If there is no further subdivision of a category, it is equivalent to a code. SDS got more. For SDS, it is Category: Aplastic and other anemias and other bone marrow failure syndromes (D60-D64). This is where D61 in D61.02 comes from. Subcategories: The category (a letter plus two numerals), followed by a decimal point and then a subcategory (letter(s) or numeral(s)) for a total of either 4 or 5 characters. For SDS, these are the last two numbers or .02 in D61.02 to define the complete code. Codes: May be a total of 3 to 7 characters. The 6th and 7th characters are generally used to provide additional context, for instance, with regard to timing or treatment status (controlled or uncontrolled), and are not used for SDS. As you know by now, the complete, unique, and specific code for SDS is D61.02. Frequently Asked Questions (FAQ) Does the new ICD-10 code for SDS (D61.02) replace all other codes my provider used in the past? No! The new diagnostic code is to be used in addition to all the other codes your provider needs to use in order to describe the current issues they are treating to get your insurance to cover the cost. The new code for SDS indicates the underlying cause . In the future, it may help you get coverage for services by letting the insurance company know that it makes sense to cover specific services due to SDS, whereas otherwise, they would not. For example, because SDS is known to be a genetic disorder, insurance companies may be more likely to cover genetic testing if there is a clear indication, such as an SDS diagnosis (based on symptoms alone). How is SDS defined for the ICD-10 code? The ICD-10 code system does not include a set of symptoms or diagnostic criteria. It is simply a code to reflect in the medical record system that a patient is diagnosed with SDS. Making a diagnosis is under the treating physician's or specialists' purview, usually based upon published diagnostic guidelines, such as those listed on our publications and guidelines page . Where can I learn more? Le arn more ab out ICD-10 codes at the ICD-code resource by the Everylife Foundation

Calling all adult SDS patients - anywhere in the world - to join us in an effort to facilitate peer-to-peer support; capture your voices, experiences, and needs; to improve medical care and access for adults, and to inform therapy development priorities. Shwachman-Diamond Syndrome Adult SDS Patient Council Calling all adult SDS patients - anywhere in the world - to join us to capture your voices, experiences, and needs; to improve medical care and access for adults, and to inform therapy development priorities. If you would like to join or have any questions or suggestions, please message us on Facebook or email us at connect@SDSAlliance.org . The council meets once per quarter, virtually via Google Meet or zoom. The first meeting took place in November 2020, and was a huge success. The current schedule is set for the second Saturday of the month March, June, September, and December, at 4 PM EST (New York Time) so that participants from all over the world can join. Please reach out if this time doesn't work for you. Please email us at adults@sdsalliance.org if you would like to join and we will send you the meeting link. We are excited to announce that Jacquelyn Kaufmann Poarch is now chairing the Adult SDS Patient Council. Please read about her background on our Meet-The-Team page . Additional Resources Mental Health Resources A great webinar from our friends at the AA-MDS International Foundation Peer connections Our Odyssey – An organization for people ages 18-35 impacted by chronic and rare conditions Peer-to-peer connection with the wider SDS community , not just adults with SDS Ideas for coping learning, cognitive, and behavioral challenges https://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. 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] Assistance accessing healthcare services (US) 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. Care packages (currently ON HOLD) In May 2021, the Adult SDS Patient Council launched a new program partnering with Potsie Packs to support adult SDS community members who are going through a tough time in their SDS journey! Potsie Packs specializes in care packages for young adults: Oftentimes, teens and young adults fighting chronic illnesses and cancer find themselves caught between being both too young and too old to receive care packages catered to them. Potsie Packs aims to provide unique gifts and helpful resources to this age group through our care package program. However, most importantly, we aim to make people smile as they go through some of the toughest days of their lives. To request a Potsie Pack, please fill out this form and mention that it is through the SDS Alliance for a Shwachman-Diamond Patient.