Shwachman-Diamond Syndrome Alliance (SDS Alliance) news SDS Alliance News Patient Voices Needed to Shape Gene Therapy for SDS — Two Opportunities to Make It Count SDS Alliance has launched a gene therapy perspectives survey on SDS-GPS. Learn why patient input matters at this stage of research and how to participate — including the GeneTX interview study at St. Jude. SDS Learning Resources 6 days ago New Resources for School Success with Shwachman-Diamond Syndrome — and How You Can Help Build More SDS Alliance launches a free personalized school letter tool and comprehensive school guide for students with Shwachman-Diamond Syndrome — built by and for the SDS community. SDS Alliance News Aug 6 Your Data, Reaching Further SDS-GPS Joins RDCA-DAP by C-Path Your SDS-GPS data just gained international reach. Learn how a new integration with RDCA-DAP is helping turn patient experience into real progress toward SDS treatments, and what it means for your privacy. SDS Alliance News Jul 23 How YOU can help move gene therapy forward for SDS Gene therapy for SDS is advancing. Learn what's being developed, why base and prime editing matter, and how your perspective can shape what comes next. SDS Alliance News Jul 9 One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. SDS Spotlight Jun 4 How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. SDS Alliance News May 30 SDS Alliance Receives Grant from RTW Foundation to Advance Prime Editing Gene Therapy for Shwachman-Diamond Syndrome SDS Alliance announces a grant from RTW Foundation supporting prime editing gene therapy research for SDS at Boston Children's Hospital. #CureSDS SDS Spotlight May 7 Your Data is Safe: What Newly Diagnosed SDS Families Need to Know About SDS-GPS Newly diagnosed with Shwachman-Diamond Syndrome? Learn how SDS-GPS protects your privacy while helping advance research and therapies for SDS. SDS Alliance News Apr 28 Living with Shwachman-Diamond Syndrome: What Lab Tests Can't Tell Us Your (or your child's) ANC came back stable. But were they really feeling okay? Discover how SDS Alliance is adding Quality of Life (PROMIS) surveys to SDS-GPS — measuring what lab tests can't capture, and building the data we need for clinical trials by 2030. SDS Spotlight Apr 2 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 Mar 5 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 10, 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

Shwachman-Diamond Syndrome - the most current, up-to-date, peer-reviewed diagnostic and treatment guidelines, for doctors and other health care providers. Publications and Diagnostic & Treatment Guidelines Key Publications Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Dror Y, Donadieu J, Koglmeier J, et al. Ann N Y Acad Sci. 2011 ;1242:40–55. doi:10.1111/j.1749-6632.2011.06349.x The purpose of this document is to provide guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management arepresented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based onthe consensus of experienced clinicians from Canada, Europe, and the United States. Shwachman-Diamond Syndrome Adam Nelson, MBBS and Kasiani Myers, MD. https://www.ncbi.nlm.nih.gov/books/NBK1756/ GeneReviews [ http://www.genereviews.org ], an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online. © 1993-2020 University of Washington Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances. Reilly CR, Shimamura A. Blood. 2023 Mar 30;141(13):1513-1523. doi: 10.1182/blood.2022017739. PMID: 36542827 Free article. [in French] Protocole National de Diagnostic et de Soins Maladie de Shwachman Diamond Mars 2023 Coordination : Centre de référence Maladies Rares : Neutropénies Chroniques Aurelia Alimi & Jean Donadieu Available at https://www.has-sante.fr/upload/docs/application/pdf/2023-04/pnds_sds_complet.pdf Free document Additional resources for physicians and researchers Up-To-Date: Shwachman-Diamond Syndrome Cancer Therapy Advisor: Shwachman-Diamond Syndrome We regret to inform you that the QUOSA's copyright-compliant platform we used will be retired in Q3 2023. While we are transitioning to a new tool, please email us at Library@SDSAlliance.org if you need assistance accessing any SDS related publications.

Community building is critical for rare diseases, and Shwachman-Diamond Syndrome is no exception. Find online and local support, here. Peer Support & Communities No one understands better than us - the patients and their families - what it is like to live with SDS. There is no substitute for the support we can offer each other as patients and families who "have been there" or are "in the thick of it". Compassionate patients and families are available day and night to support those who need it - be it patients and families newly diagnosed, going through a crisis, or ready to take action to improve outcomes. We have created several resources to facilitate peer support. In addition, you can find a list of official national nonprofits focused on SDS patient support, below. SDS Alliance Community Connection Resources We have a private Facebook group for SDS families and their close supporters, who are interested in honest, mindful, and proactive discussions about SDS, the latest research, and opportunities to get involved and make a difference, called the Family Network Facebook group . Please join if you would like to get involved. We also have Facebook support groups that are focused on certain regions (e.g. Latin America), languages (e.g French), and demographics (e.g. adult SDS patients ). Please reach out to us if you would like to get connected. Are you new to the SDS community? Do you need help understanding SDS or what we are doing about it? Would you like to connect with us about anything SDS-related? Schedule a one-on-one call with me at your convenience. (We cannot give medical advice, but are happy to discuss anything else and point you to the right resources.) Currently On Hold: Monthly Virtual Community Calls: Sundays, 3pm ET (12pm Los Angeles, 3pm New York, 8pm London, 9pm Paris) Register at www.SDSAlliance.org/coffee Other Community Resources We maintain a list of SDS-focused country-specific registered charities in order to support patients everywhere. See them listed alphabetically by country in the table below. Don't see YOUR country represented? We can help you set up a group and even host a simple info page to help serve YOUR community. Contact us! Germany Italy Netherlands United Kingdom United States

Meetings, symposia, congresses, and more, for scientists, researchers, doctors, and other health care providers. Meetings for Professionals and Other Stakeholders SDS PFDD Meeting Externally-Led Patient-Focused Drug Development Program (EL-PFDD) meeting for Shwachman-Diamond Syndrome. June 4th, 2025. Cinicnnatti, OH and Virtual via Zoom. Visit the SDS PFDD Info Page Catch up on the summary and video recording of SDS POPS 2024, our global virtual patient advocacy and partnering summit. SDS POPS Recording & Resources SDS Congress The next International Congress on Shwachman-Diamond Syndrome is scheduled for June 5-8, 2025 in Cincinnati, OH, USA. In-person only. For more information including agenda and registrations, visit the event website .

Resources for researchers, doctors, and other health care providers, related to Shwachman-Diamond Syndrome. Resources for Doctors and Researchers Join the SDS Alliance Network Diagnostic and Treatment Guidelines Research Tools Scientific Meetings

Shwachman-Diamond Syndrome - News and Events from around the globe! Featured News & Events Featured News Featured News on News and Events SDS Alliance News SDS & Science Snapshots All Our Blogs One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. SDS Alliance Receives Grant from RTW Foundation to Advance Prime Editing Gene Therapy for Shwachman-Diamond Syndrome SDS Alliance announces a grant from RTW Foundation supporting prime editing gene therapy research for SDS at Boston Children's Hospital. #CureSDS 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 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. 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. 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 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, 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 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-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 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. 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 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! 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 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 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 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 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)... 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 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 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... 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... 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... 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... 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. 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. 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...

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

The Global SDS Awareness Week started in 2021 for the global SDS community to join forces and raise awareness about SDS. Motivated families and organizations put on their own events or join together. Our creativity and passion has no limits! Shwachman-Diamond Syndrome - #CureSDS Global SDS Awareness Day and Action Week What's Global SDS Awareness Day & Action Week? Global SDS Awareness Day and Action Week is about coming together and raising awareness as a united global patient community. In 2020, the SDS Alliance reached out to all the international SDS patient organizations to discuss the idea of creating an annual Global SDS Awareness event, proposing a time in spring or fall to avoid the busy winter holiday and summer vacation seasons. Our colleagues at SDS UK proposed late April as the time to coincide with Dr. Shwachman's birthday. All organizations that responded - including SDS UK, SDS Netherlands, and SDS Foundation (US) - supported this concept and timing, and so Global SDS Awareness Week was born. Over the years, the event has not reached its full potential, so we set out to reconsider the date. We polled the international patient community for a new date/frame preference. You voted and we listened! Based on your feedback, the new date(s) are: Global SDS Awareness Day is November 7th and leading up to it, Global SDS ACTION Week is November 1-7th Take Action to Make an Impact! Here is a list of simple actions you can take, one or two a day during Global SDS Action Week - or anytime throughout the year. How will you take action this year? 1 November Start or join a team for Million Steps Closer to #CureSDS, our annual fundraiser to support research! Learn more about the Million Steps fundraiser Start a Team today Become a sponsor or make an introduction 2 November Join SDS-GPS to drive research by sharing your voice and lived experience with SDS. Click to learn more and join SDS-GPS Available in 5 languages Quick SDS-GPS intro at SDS-POPS 3 November Share your story! Record a video or audio (button below!) to share your voice. Use our nifty Vocal Video tool. Or is writing your passion? Submit a story to our patient and family story page! Click to record a Vocal Video or audio Click to submit your SDS story Click to read SDS patient and family sotries 4 November Know what's in your genes. Gene therapies and other precision medicine treatments can only benefit you if your genetics are known. Check out our learning resources, upload your genetics report to SDS-GPS, or pursue a genetic diagnosis for free. Learn all about Genetic Testing Reports How to access Free SDS Genetic Testing options Join SDS-GPS and upload your genetic testing report 5 November Open Hearts and Minds. US patients: Ask all your healthcare providers to add the SDS ICD-10 code to your medical records. Plus, w atch our documentary film "Until There's a Cure". Learn all about the new ICD-10 code for SDS Order a T-shirt Watch and share the SDS Documentary Film "Until There's a Cure" 6 November Join our global network of families and stakeholders: Join our mailing list. Join our Facebook Groups. And join our monthly Coffee Chats to receive and offer peer support. Join our mailing list Join our Peer Support groups Join our Coffee Chats 7 November Consider sustaining our mission to give SDS patients and families more birthdays to celebrate by joining Monthly Giving Allies by making a monthly donation in any amount. The funds will not only help with advancing our programs, but also to show strength in numbers. Other gifts are also very appreciated Join Monthly Giving Allies Explore other Giving Tools Learn more about Monthly Giving Allies Here are some additional ideas from last year. Click on the list to download a PDF with clickable links. New! Share a vocal video! We partnered with Vocal Video to bring you a super easy way to share your voice by answering a few simple questions. Here is Eszter's example. Click here or below to share your voice, today! Click to create YOUR Video We will use your videos to raise awareness about SDS and to inform our programs to best support your needs! Why November? Dr. Shwachman was a prominent gastroenterologist in Boston in the 1960s and developed deep expertise in caring for Cystic Fibrosis (CF) patients and "atypical" CF patients. This was before SDS was recognized as a distinct disorder, and many patients were categorized as "atypical CF." Drs. Shwachman and Diamond , as well as Dr. Bodian , were instrumental in defining Shwachman-Diamond Syndrome. A landmark publication in the journal Pediatrics in 1964, entitled "The Syndrome of Pancreatic Insufficiency and Bone Marrow Dysfunction " was published by Drs. Shwachman and Diamond in November 1964. It is due to this publication that the disease received its name, "Shwachman-Diamond Syndrome". About 40 years later, Dr. Johanna Rommens and her team at SickKids in Toronto, Canada, identified the main gene responsible for SDS. The gene (and corresponding protein) was named SBDS for Shwachman-Bodian-Diamond Syndrome to acknowledge Dr. Bodian's contribution to the field. Coincidentally, the SBDS gene happens to be located on section 11 or Chromosome 7, giving a nod to the date of 11.7 or November 7. Why participate? It is our hope that more and more organizations and families will participate over time so that this campaign can grow and reach more families, medical providers, and researchers. We have reached out to all international SDS patient groups to invite them. Raising awareness can save lives. Any diagnosis made sooner lessens the burden and suffering of the diagnostic odyssey, and life-saving interventions can begin sooner. The SDS community can grow to support more targeted research, accelerating the pace toward therapies and cures. Additional ideas to take action Both patient advocacy groups AND individual patients and families are invited to host events in their communities, be it a bake sale, gala, golf tournament, walk, or any event that works for you and your community. Let us know if we can help in any way! We would love to post your events below and help spread the word. If you have questions about any particular event or campaign, please reach out to the hosting organization or family directly. Donations to any of the participating SDS organizations are always welcome and appreciated. Visit their respective websites for details. If you are an SDS patient or family looking for peer-to-peer support or local support organizations, please check out the list on the SDS Alliance website, here . General information about SDS for patients and families can be found here . New T-shirt Designs Now Live! Click on the design to order. Multiple colors and styles are available, including t-shirts, hoodies, and tank tops. International shipping is available. If you would like to have them printed locally in your country or community, email us at connect@sdsalliance.org and we will be happy to share the design file! SDS Story Series Huge thanks to all the SDS families from around the world for sharing their stories! The stories are available on the SDS Alliance social media channels: SDS Alliance Website blog (Patient Stories) SDS Alliance Facebook page SDS Alliance Twitter (@CureSDS) To raise awareness about SDS as part of the Global SDS Awareness Week in 2021, the SDS Alliance is launching a series of SDS Stories on all it's website, Facebook, and Twitter. We are looking for stories from around the world, the good, the bad, and the ugly :). We want to raise awareness that SDS manifests itself and impacts families in a wide variety of ways, so that more patients can be diagnosed sooner and benefit from community support and better treatments. We also want to show the world that the SDS community is strong and worthy of investment into new therapies and cures. Join us by sharing YOUR story. Visit our Patient Stories page, contact the SDS Alliance on Facebook or email us at connect@SDSAlliance.org .

Project PACER is a program supported by PCORI to Build Capacity for Patient-Centered Comparative Effectiveness Research (CER) in Shwachman-Diamond Syndrome. Project PACER Patients & Families Researchers & HCPs Course Modules Guides Building Capacity for Patient-Centered Comparative Clinical Effectiveness Research (CER) in Shwachman-Diamond Syndrome. Read the pressrelease here Project PACER is funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (EASO-42419). NEW! SDS Alliance is presenting at the NAPAAC Scientific Symposium October 25-27, 2026, at St. Jude, Memphis, TN Attending the NAPAAC Annual Meeting? We have several opportunities to connect, explore, and deep-dive into patient-centered research together! Join us! An overview of our work on opening night, alongside other patient organizations in the BMF community From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development and Clinical Research A lunch roundtable discussion on Monday: SDS Alliance's PCORI-Funded Growth: Building Capacity for Patient-Centered Comparative Clinical Effectiveness Research Through Project PACER A poster to invite conversations around our EL-PFDD work, Voice of the Patient report, Patient Perspectives surveys, and qualitative research insights. The title: Patient-Focused Drug Development (PFDD) and Beyond: How SDS Alliance Is Building a Patient Voice Evidence Base for Research and Drug Development More info coming soon! Watch the Project PACER Kickoff Meeting to learn more Project PACER Opportunities for: Patients & Families Help build a comprehensive SDS education resource with YOUR voice at the center Watch Eszter's 2-minute SDS Spotlight video, introducing Project PACER , then read on to see how you can be part of it. You are the heart of Project PACER. Now it's time to help build it. We're creating the first comprehensive SDS education resource — with your priorities, your stories, and your voice at the center. Take the 5-7 Minute Survey How to Get Involved Why This Matters Informed families are powerful partners in research — and that changes outcomes for everyone with SDS. When you deeply understand SDS — the science, the research landscape, how clinical studies work — you can: Advocate more effectively with your healthcare team Help researchers design better SDS studies Make confident, informed decisions about clinical trial participation Serve on patient advisory boards Mentor and support other SDS families, including the newly diagnosed Project PACER builds that capacity across the entire SDS community — together. Our goal is clinical trials by 2030, and an informed, research-ready community is what makes that possible. What We're Creating Two core resources, built with community input from the start. Living with SDS: A Practical Guide A comprehensive manual covering every organ system — expert clinical overviews in plain language, patient and family stories, and current research updates in each chapter. Available as a full PDF, individual chapters, one-pagers, infographics, and in print. Open-access with DOI (target: 2027). An Online Course Training Built from the manual — designed to help you understand SDS deeply and participate meaningfully in research and advocacy. Delivery format shaped by your preferences. Completing the course is compensated, thanks to PCORI funding. Topics We're Covering The survey asks you to choose your top 3–5 priorities. Your input directly shapes how much depth we give each topic. ● Neutropenia & immune system ● Bone marrow failure ● Cancer risk & monitoring ● HSCT — when, how & why ● Pancreatic insufficiency ● Nutrition & growth ● Liver health ● Metabolic & diabetes risk ● Bone health & puberty ● Skeletal abnormalities ● Dental & oral health ● Cognitive development ● Attention & ADHD ● Emotional health & trauma ● Quality of life ● Fertility & family planning ● Genetic counseling ● Caregiver wellbeing ● Pediatric-to-adult transition ● Navigating healthcare ● Clinical trials ● The future of SDS treatment ● Patient-centered research ● SDS communities worldwide ● And more by request! Project PACER: For Clinicians & Researchers What You'll Be Able to Do After completing the Project PACER course, you'll be equipped to make a real difference — wherever you are. At the doctor: Speak up more clearly and confidently for yourself or your child With researchers: Help scientists design better SDS studies with your informed perspective In the community: Help and teach other SDS families — especially the newly diagnosed In clinical trials: Make decisions about participation with real confidence On advisory boards: Provide an informed patient perspective on research planning With SDS Alliance: Participate in projects and help shape what we build next How to Get Involved Choose the level of involvement that fits your life. Every role matters. * Several roles are compensated, thanks to PCORI funding. Patient Co-delevopers* Help design course content that actually prepares families for meaningful research engagement. Shape the curriculum, review materials, and guide priorities from the inside. Story Contributors Share your experience to illustrate a manual chapter. You'll tell us which topics your story speaks to, and we'll match you to the right chapter. Newly diagnosed families will benefit directly from your voice. Pilot Testers* Try the course before it launches and give feedback. Help us refine the experience so it truly works for real families. Cours Participants* Take the course when it launches. Earn a certificate that qualifies you to serve on advisory panels, advocate more effectively, and mentor others in the SDS community. The survey asks which roles interest you — you're not committing to anything yet. We'll follow up with details as we finalize next steps. Take the Survey — Your Voice Shapes What We Build The survey covers which topics matter most, what course format fits your life, what a completion certificate means to you, and how you'd use your knowledge. 5–7 minutes. Every response directly shapes what we create. Survey open through March 2026. All responses are confidential Take the 5-7 Minute Survey What the Survey Asks No surprises — here's exactly what you'll be answering. Your connection to SDS and how long you've been on this journey How you'd describe your current understanding of SDS Which topics are most important to you (pick your top 3–5 from a full list) Which participation roles interest you (co-developer, story contributor, pilot tester, or course participant) What course delivery format works best — self-paced, live, hybrid, or in-person What a course certificate would mean to you, and how you'd use what you learn How compensation affects your ability to participate in higher-effort activities Whether you'd like to join the SDS Alliance mailing list and global network What Happens Next Now – March 15, 2026: Community survey open. Take it to shape what we build. Spring–Fall 2026: Chapter writing, patient story matching, and course co-development with community contributors. Q4 2026 / Q1 2027: Manual published open-access with DOI, and online course launches — with compensation for participants. Questions? Reach out to Eszter at connect@sdsalliance.org . Help build a comprehensive SDS education resource with clinical expertise from around the world Project PACER Opportunities for: Clinicians & Researchers Help build the definitive SDS education resource Currently, there is no comprehensive, patient-centered SDS guide. We're creating one — with clinical experts from around the world. PCORI-funded Open-access publication DOI-citable chapters Free CME/CNE training Take the Professional Interest Survey How to contribute Three ways to get involved We're developing Living with Shwachman-Diamond Syndrome: A Practical Guide — a multi-chapter manual covering every organ system, each with a patient story, an expert clinical overview, and a research landscape update. Published open-access with a DOI in 2027, every chapter is a citable scholarly contribution. Expert Chapter Contributor Write one clinical overview (2,000–2,500 words, plain language) for a topic aligned with your expertise, from hematology and neutropenia to genetics, nutrition, transition to adult care, and 20+ more. What you get: Byline credit on your chapter DOI-citable publication (targeting 2027) Acknowledgment in all derivative materials Commitment: One chapter + one patient review round for clarity Clinical Reviewer Review 1–3 draft chapters for medical accuracy and currency — no writing required. Ensure the content meets clinical standards before it reaches patients and families worldwide. What you get Acknowledgment in the manual Meaningful contribution without writing commitment Early access to final chapters Commitment : Approximately 2–3 hours total Network Partner Share PACER resources with SDS patients in your care and with professional colleagues. Help the right information reach the right families at the right moment, to improve outcomes. What you get Early access to manual chapters Patient education materials for your practice Updates on PACER progress Commitment : As your time allows Why it matters for your work A stronger community benefits everyone Patient-centered funding agencies — including PCORI and NIH — increasingly require demonstrated community engagement. PACER gives researchers a concrete, documented partnership to point to in grant applications. For clinicians, an informed patient community means better research participation, more meaningful clinical conversations, and families who arrive at appointments prepared. Every chapter you contribute directly shapes that outcome. What to expect Timeline Spring 2026 — Expert recruitment & chapter assignments We'll match contributors to chapters based on expertise and interest survey responses. Spring–Fall 2026 — Writing, patient review & revisions Chapters go through an iterative review process with both clinical and patient community input. Late 2026/Early 2027 — Open-access publication & course launch Manual published with DOI; free online training for clinicians and researchers launches simultaneously. Ready to contribute? Complete our 10-minute interest survey for professionals and we'll be in touch as chapter assignments begin in Spring 2026. Questions? Email us at connect@sdsalliance.org Take the Professional Interest Survey What Project PACER has achieved so far 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. Eszter Hars, Ph.D. will lead the two-year engagement project (EASO-42419) through the SDS Alliance. Read the pressrelease here The biggest and most impactful patient voice meeting - the SDS PFDD meeting - is a key component of Project PACER. Learn all about the SDS PFDD Meeting Patient Posters As a conversation starter and to give patients and families an opportunity to share their experiences in a new, impactful way, we created a series of large posters (pop-up banners) that were displayed at the Project PACER kick-off meeting, the EL-PFDD meeting, and the International Scientific Congress in Cincinnati, OH, on June 4th, 2025. The banners are portable, and we are planning to display them at additional meetings as opportunities arise. Digital copies are available to view right here. To create these posters, patients and families were asked to fill out a simple form with all the information needed and upload photos they wanted to share. As part of Project PACER, we invited feedback about the posters, from both the patient community and other stakeholders. The feedback was overwhelmingly positive.

Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a 501(3)c public nonprofit foundation/organization, focused on improving patients' lives by accelerating research, fostering international collaborations, and providing quality educational and awareness materials. Shwachman-Diamond Syndrome is a life-threatening condition. We save lives by developing new therapies. Join our network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential. Join Us About Us We bring patients, caregivers, doctors, and researchers together to drive research and accelerate therapy development. As a patient advocacy nonprofit, we build and share research tools and infrastructure, amplify the patient voice to guide therapy development, create collaboration frameworks and opportunities, and strategically invest funding into projects with a potential to become transformative therapies. About Us Our Impact Join our mailing list. Enter our Global Network. Register Now Be the first to learn about updates on SDS research, care guidelines, therapy development, advocacy, and community news. Developing a therapy for SDS is complex, expensive, and never fast enough . Our programs are designed to get it done . Now. Our Strategy For Patients and Families For Doctors and HCPs For Researchers and Industry Join us live this fall at SDS POPS , our global virtual patient advocacy and partnering summit. Register Now All Events See our impact. New collaborations, further reach, faster progress. Featured News All our Blogs One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. SDS Alliance Receives Grant from RTW Foundation to Advance Prime Editing Gene Therapy for Shwachman-Diamond Syndrome SDS Alliance announces a grant from RTW Foundation supporting prime editing gene therapy research for SDS at Boston Children's Hospital. #CureSDS 1 2 3 4 5 Let’s give SDS patients and their families more birthdays to celebrate. Join us. Join our global network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential. Join Us Donate

Patient stories - from the Shwachman-Diamond Syndrome community, for the Shwachman-Diamond Syndrome community Patient Stories Stories connect. This page is dedicated to our global community of patients and families who are all impacted by SDS in various ways. No matter whether your SDS is "mild or severe", your story matters! We want to paint a picture of what SDS looks like and how varied the experiences are -- so that more patients can be diagnosed sooner and benefit from community support and better treatments. We also want to show the world that the SDS community is strong and worthy of investment into new therapies and cures. Join us by sharing YOUR story. Contact the SDS Alliance on Facebook or email us at connect@SDSAlliance.org and fill out this release form . We are publishing patient stories on the SDS Alliance blog, Facebook page, Twitter, and more. You can make it as personal as you like with names, photos, and more, or keep it more private to fit your preference. We will help with editing and layout. We will work with you. One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. 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. Octavian's SDS Story 2: A Rare Gem with EFL1, Year Two One year has passed since we have shared with you all our first year as a family of 4. In our first chapter we have discussed about our journey from noticing that something might be wrong with our Octavian and the long and intense journey of getting the right diagnosis, finding the right medical center and medical team to provide Octavian the care he needs and concluded with a strong statement of acceptance and a promise to live life the fullest despite SDS. 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. 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 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, 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-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 Octavian's SDS Story: A Rare Gem with EFL1 "We have reached the stage of acceptance and trying to live life the fullest despite SDS" Shares Octavian's dad, Raul. Read this Romanian... Alex's SDS Story and Diagnostic Odyssey (US) "My journey as a mother of a child with a rare disease began when I had my 20-week ultrasound while pregnant with my son Alex", shares... 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 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... 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... Ángel Leonardo's SDS Story from Mexico [Spanish and English] "My parents taught me that apart from receiving help, I must also help. I have a big heart and I am a teacher of life for my family, a... A Blast from the Past: Cresta's SDS Story from the US "I look forward to many more years and to support research to aid SDS patients in the fight against leukemia and Myelodysplastic... Mike's SDS Story from The Netherlands [Dutch and English] "I hope to be able to support and help people where necessary with my story." Shares Mike's mom Irma. Read this Dutch family's story,... Nora's SDS Story with a Twist: Our Quest for a Cure "I needed to push for what I thought my daughter needed. I was her voice." Shares Nora's mom Lisa. Read this US family's story, here. If... 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... 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... Betty's SDS Story and Journey through Bone Marrow Transplant "The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive." Shares Betty's mom... Whitner's SDS Story and Journey to Bone Marrow Transplant "My journey to diagnosis has been nothing short of an adventure, filled with many obstacles, hundreds of specialists, and much... Kim and Harrison's SDS Story from the UK "My son has taught me so much and through him I have grown as a person in stature, confidence and emotional stability. I have seen the... Ryker's SDS Story and Journey to Bone Marrow Transplant "Ryker has been such a strong little man throughout these past couple of years with going through so many tests, procedures and doctor... Healing Henley. An SDS Story told by Henley's mom, Jess Picture and story about Jess and daughter Henley (who suffers from Shwachman-Diamond Syndrome), preparing for bone marrow transplant. Carter and Skye's Story: A short video for Maddie Riewordt's Vision Carter and his sister Skye both have Shwachman-Diamond Syndrome (SDS) and went through stem cell transplants, recently. Gracie van Brunt – singer, songwriter, and rare disease advocate – shares her story in a podcast. Gracie van Brunt – singer, songwriter, and rare disease advocate – shares her story in a podcast. Max's Story: A short insight as part of the 2020 Jeans for Genes Max and his family are raising awareness for Shwachman-Diamond Syndrome and rare disease by participating again in the 2020 Jeans for Genes Gracie's Story: Finding my voice and insights into my BMT Gracie - a young adult SDS patient in the US, shares her story about finding her voice and her bone marrow transplant. About a mother's relentless quest for a cure for SDS By Emily Williams / Boston Children's Hospital In this post, you can learn about the passion and efforts of a mother to a young daughter... Teen author dedicates a children’s book to her twin brother with Shwachman-Diamond syndrome Boston Children's Hospital's Patient Stories section features an SDS family's story. Read the whole story, here. Sophia Namazy, 14, wrote... How families are reshaping Shwachman-Diamond syndrome research By Emily Williams / Boston Children's Hospital In this post, you can learn about the experiences of two families affected by... Share with us your SDS journey. It is a wonderful resources for new families and old friends alike. We can help you write if you like. Simply contact us at CureSDS@gmail.com. Welcome to your blog post. Use this space to connect with your... Do you have an SDS story to tell? Would you like to share your SDS journey with the SDS community? Let us help you create a blog post. Email us today at CureSDS@gmail.com. Welcome to your blog post. Use this space to connect with your... After Amazon mix-up, man becomes advocate for little boy with Shwachman-Diamond Syndrome In 2018, a wonderful friendship unfolded as a result of a mishap. Now the SDS family got an extra super advocate as a result. Read the... A mom from NZ explains how her rock ‘n roll lifestyle was turned upside down by SDS. Written for The Spinoff magazine (NZ) / By Kiki Van Newtown In this story, you can learn about this Rock 'n Roll family's journey with...

FREE downloadables to share awareness and knowledge about Shwachman-Diamond Syndrome! Media Kits & Downloads Rare Disease Day (Last Day of February) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post . Childhood Cancer Awareness Month (September) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post . Load More Global SDS Awareness Day and Action Week (November) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post .