Our work would not be possible without your financial support. We make it simple to make a gift through our online donation tools and more. Your Donation Saves Lives Donate Securely with Credit Card, ACH, or PayPal Give One Time or Monthly Join our Monthly Giving Allies : your monthly contribution will support our work year-round — ensuring that we can maintain our ongoing efforts to make SDS research possible and efficient. To set up a regular donation, select the “Monthly” option on the form on this page, or the Monthly Giving Allies campaign page . You can cancel or make changes anytime. Click here to open the donation form in a new window in case the embedded form is not working for you. donate Double Your Impact Employer Matching Many corporations match employee donations to nonprofit organizations — meaning your gift to SDS Alliance could be doubled, or even tripled, at no extra cost to you. It takes about five minutes. Search for your company using the tool below, and follow your employer's instructions to submit a match request. SDS Alliance is a registered 501(c)(3) nonprofit, and we will provide any documentation your employer needs. Charity Navigator employer matching search lets you Search for your company → Not sure if your company participates? Ask your HR department or check your employee benefits portal. Many people are surprised to find their employer offers this benefit. Questions? Email us at gifts@sdsalliance.org — we are happy to help. Employer-gift-match Monthly Giving Allies is our new community-powered monthly giving circle. It brings together families, caregivers, friends, and supporters who want to help accelerate research, strengthen advocacy, and advance therapy development for Shwachman-Diamond Syndrome. Monthly giving isn’t about the amount. It’s about being counted. When many families give even a small amount each month, it shows researchers, funders, and biotech partners that the SDS community is large, united, and determined to push for progress. Every Ally strengthens our collective voice. Every gift fuels the mission to #CureSDS. Every action takes us closer to Clinical Trials by 2030. Every contribution enables us to give SDS patients more birthdays to celebrate. Why Monthly Giving Matters * Helps fund long-term, high-impact research projects * Demonstrates community strength to funders and scientific partners * Supports therapy development initiatives * Provides predictable, reliable funding * Shows unity and determination within the SDS community Small monthly gifts add up — because there is Strength in Numbers to #CureSDS. Go to Monthly Giving Allies Form Learn More Fundraise with an Event & Personalized Webpage Set up a personalized fundraising page on our GiveLively donation platform , by clicking the "Start a Fundraiser" button on any of our fundraising pages or here . All donations go into the SDS Alliance bank account, and donors receive an automatic receipt right away. You can create fundraisers for any special occasion or to increase your impact at any time of the year. Email gifts@sdsalliance.org for help. We will be happy to assist. Fundraising Tips Download Guide Donate or Fundraise through Facebook We are an approved charity on Facebook. Visit our Facebook page at www.facebook.com/SDSAlliance and use the "Donate" button at the top, donate to an existing fundraiser benefiting us, or create your own personalized fundraiser. Send a Check in the Mail If possible, please give us a heads about your check and confirming the address by emailing us at gifts@sdsalliance.org., so we can keep an eye on it and ensure that you receive a receipt and heartfelt thank you in a timely manner. Make checks payable to Shwachman-Diamond Syndrome Alliance. Send to: Shwachman-Diamond Syndrome Alliance PO Box 2441, Woburn, MA 01888, USA. Wire from Your Bank Please contact us at gifts@sdsalliance.org for details. Use Your Donor Advised Funds New! Our donation form at the top of this page, managed by GiveLively, now offers DAF as an option during checkout. On all our campaign pages. It uses DAFpay by Chariot to securely connect to your Donor-Advised Fund (DAF). After selecting that option, you’ll be asked to log in to your DAF provider. Learn about DAF grants through Give Lively. Open GiveLively Donation Form Alternatively, we also partnered with Every.org to process DAF donations. If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Your donation is made to Every.org, a tax-exempt US 501(c)(3) charity that grants unrestricted funds to Shwachman-Diamond Syndrome Alliance Inc on your behalf. As a legal matter, Every.org must provide any donations to Shwachman-Diamond Syndrome Alliance Inc on an unrestricted basis, regardless of any designations or restrictions made by you. FAQ How does Every.org accept my donation? Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. On a weekly basis, Every.org grants to Shwachman-Diamond Syndrome Alliance Inc. This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? We do not charge any fees to accept DAF gifts, and currently cover all the Chariot fees. Every.org does not charge any platform fee of our own, because we are a nonprofit. Instead, we rely on the generosity of donors to fund our mission of philanthropy for everyone. Will I receive a tax-deductible receipt for my donation? If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Open Every.org DAF Donation Form crypto Donate Crypto (NEW) We partnered with Every.org to process Crypto donations. Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. We then partner with PayPal Grants to grant to Shwachman-Diamond Syndrome Alliance Inc on a monthly basis (or semiannually for balance under $100). This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? Our exchanges generally charge a 1% flat fee to automatically liquidate cryptocurrency. Every.org does not charge any fees of our own. Open Crypto Donation Form Planned Legacy Gifts & Bequests You can leave a legacy while at the same time supporting the mission of the SDS Alliance. We are committed to making your gift meaningful to you. A bequest through your will allows you to designate a specific dollar amount or a percentage of your estate to SDS Alliance. A bequest may reduce the amount of your taxable estate, which may increase the actual amount available to loved ones. Please talk to your attorney or financial advisor to determine the best way to include us in your estate plans. Contact us at connect@sdsalliance.org or +1-617-329-1838. Stock and IRA Charitable Giving Gifts of Stock that have been held for more than 12 months offer two-fold tax savings: a tax deduction for the full fair market value of the stock on the date of the gift and capital gains can be avoided. Please talk to your tax or financial advisor. Individual Retirement Account (IRA) owners over age 70½ may make a transfer of up to $100,000 per year to qualified charities, including Shwachman-Diamond Syndrome Alliance. IRA charitable rollovers are tax-free and not included in adjusted gross income. An IRA charitable rollover may fulfill part or all of your required minimum distribution (RMD). For more information on making an IRA contribution please talk to your tax or financial advisor. Personalized Memorial Page Every life should be celebrated and every loved one should be remembered. Creating a personalized memorial page in loving memory of a loved one is a way to remember those who have recently passed and a way to provide a dedicated link for friends and family to make a donation. You can personalize this page with text and a photo. As long as the page remains active, you can continue to use it to invite gifts in memory of your loved one. To create a personalized memorial page, use our donation platform and click "I want to fundraise for this" as described above. Or, contact us at connect@sdsalliance.org or call us +1-617-329-1838 for assistance. For any questions or comments, please email us at gifts@sdsalliance.org

Join the network of professionals, doctors, researchers, patients, and caregivers to drive the development of therapies and to #CureSDS. Join the SDS Alliance Collaborative Research Network to #CureSDS Thank you for your interest in joining us to work toward therapies and cures for Shwachman-Diamond Syndrome, together. The key to this disease is within each patient and their caregivers (family & loved ones). By collaborating with all stakeholders within the community, we can unlock the unknowns and achieve our mission to improve all patients' lives. There are many ways to help. Please join all opportunities that are right for you . SDS Patients & Families Join our mailing list to receive our newsletter and timely updates. You can unsubscribe anytime. Join SDS-GPS to share your experience and drive research! SDS-GPS is a survey platform that makes it easy to fill out surveys and share relevant information while protecting your privacy. It's IRB-approved and data protection compliant. And, you can see how your answers compare to others. Join our peer groups : We have an active Facebook group called the Action Team and a monthly virtual call for families with a genetic diagnosis, as well as a call for adults with SDS (as part of the Adult SDS Patient Council ). Join our Mailing List Join Join our Peer Communities Physicians & Researchers Join our mailing list to receive our newsletter and timely updates. You can unsubscribe anytime. Apply to join our Medical and Scientific Advisory Board or Strategy and Method Expert Advisory Board. Email us at connect@sdsalliance.org Join our Mailing List Email Us Community Supporters & Volunteers Want to follow and support the fight to #CureSDS? Join our mailing list to receive our newsletter and timely updates. You can unsubscribe anytime. Joining provides access to our newsletters, research progress, and updates on our fundraising opportunities and annual events. Do you have a passion for improving the lives of SDS patients and their families? Do you have free time and/or a special skill or talent? Consider volunteering to move our work forward. The SDS Alliance Network is comprised of physicians, researchers, patients, loved ones, and life-science students. Our organization would not be successful without the hard work and dedication of so many people who volunteer their time to help us fight for therapies and cures. If you are passionate about SDS and want to help us advance our life-saving research by joining our team, email us at connect@sdsalliance.org . Join our Mailing List Email Us

The SDS Alliance understands how rare disease research is most efficiently conducted. Instead of passively soliciting researchers for ideas,we are actively identifiying projects that are key to therapy development, seeks out the best experts to do the work, and coordinates the efforts to deliver results. The investments we make are highly strategic and aimed at leveraging NIH grants and enabling additional projects. Let's #CureSDS together. Strategy & Roadmap Collaboration is not enough. Therapy development needs coordination to achieve results. That's how we drive progress, together. Unlike foundations in the past, we understand how rare disease research is most efficiently conducted. Instead of passively soliciting researchers for ideas or funding a favorite without a plan or proper agreements, we invest strategically. We actively identify projects that are key to SDS therapy development, find the best experts to do the work, and coordinate the efforts to deliver results. We value your donations more than the face value, as we know it's personal. We invest only in critical projects that have the potential to accelerate therapy development and leverage large NIH grants and other funding whenever possible. For example, our mouse project is leveraging substantial NIH funding through the Jackson Laboratory and will provide a critical tool for a wide range of therapy development projects. We believe that this strategy is the most effective way to generate results that matter to us, the patient community. Quick Video overview of WHAT we do and WHY. Timeline of impact your support made possible Pipeline of Therapies for Shwachman-Diamond Syndrome. The Programs We Follow and Support. Your support has impact . See the progress with timelines and costs. Our SDS therapy development roadmap includes a wide range of initiatives and projects driven by us, with your support. We welcome researchers, patient advocates and organizations, and biotech companies to join our efforts toward developing therapies for SDS. This is a living document that we update and refine regularly. Costs and timelines are estimates. MOUSE AND OTHER PRECLINICAL MODELS – ACTIVE Goal: a mouse and/or other models that reflect the genetics of human SDS and reproduce SDS phenotypes, to enable therapy development based on various strategies, such as gene-targeted approaches, small molecules, and drug repurposing. Programs/Activities: ACTIVE The initial focus is a mouse model humanized with the splice site mutation and flanking regions. Status: Mouse model development launched , meet the development team , phase 1 complete ACTIVE A pilot study for an alternative mouse model project has launched. Time frame: 1-2 years for building and initial characterization, 3-4 years for characterization of malignancy predisposition Cost: $300,000 ($150,000 covered by The Jackson Laboratory/NIH funding) iPSC AND OTHER PATIENT DERIVED CELL LINES (BIOBANK) – EXPANDING Goal: Patient cell lines available to researchers anywhere in the world, to test and develop various SDS therapies. Programs/Activities: LIVE Cell line types include Lymphoblastoid Cell Lines (LCLs), fibroblasts, and Induced Pluripotent Stem Cells (iPSCs). De-identified clinical information associated with the samples. Samples are processed, stored, and distributed by the Coriell Institute. Goal of 25-50 patients enrolling, covering various ethnic backgrounds, and the whole range of SDS mutations. Status: SDS Cell Biobank pilot complete, SDS Cell Biobank launched, iPSCs development launched , isogenic pair created Time frame: 2-4 years Cost: $150,000 (Leveraging $75,000 covered by Corielle Institute/NIH funding, and a grant from UPenn ODC) GLOBAL DATABASE / PATIENT DATA HUB – ACTIVE Goal: Critical for determining therapeutic endpoints for clinical trials; Global participation and access to data Programs/Activities: LIVE Survey Platform for patient-reported data and collaboration: SDS-GPS Genotype/phenotype correlation and identification of new SDS genes and mutations using Whole Exome and Whole Genome Sequencing (WES/WGS) LIVE Diagnostics support for patients (through cost assistance, a global network of knowledgeable physicians, and inclusion of SDS on all relevant panels). Get tested! Cost: $100,000 per year (leveraging grants; $10,000 diagnostics support covered by charity partners) NETWORK DEVELOPMENT AND CLINICAL TRIAL READINESS – IN PROGRESS Goal: Facilitating clinical trial planning, initiation, and regulatory agency engagement Programs/Activities: Obtaining and promoting ICD-10 (and ICD-11) codes for SDS. LIVE Our ICD-10 code application in the US has been successful and approved by the CDC. See Press Release and ICD Resource Page Engaging with regulatory agencies (i.e. FDA) DONE FDA CBER OTAT Patient-Focused Drug Development Listening Meeting Two additional meetings were completed in 2024 DONE MAJOR EVENT: EL-PFDD for Shwachman-Diamond Syndrome conducted on June 4, 2025 . Continued patient community and research network building LIVE Patient-focused educational resources, including research updates (Ask an Expert webinars), blog posts , website resources, conferences (SDS POPS) , and more) LIVE Patient community connections (Monthly Community Coffee Chat , closed Facebook groups, and more) LAUNCHED Project PACER to build capacity for CER for SDS . Time frame: 2-3 years to build, then ongoing Cost: $100,000 (leveraging grants, PCORI, and industry funding) GENE TARGETED THERAPY DISCOVERY AND DEVELOPMENT – ACTIVE Goal: Getting pre-clinical work ready for translation into clinical application (therapies for patients) ACTIVE Gene editing, base editing, prime editing. Testing and optimizing lead candidates on mouse model from above. (Drs. Brendel and Baurer at Boston Children's Hospital, USA) IN PROGRESS Stop-codon read-through / nonsense suppression (Drs. Cipolli and Bezzerri, Verona, Italy) PAUSED Antisense Oligonucleotide Therapies (ASOs) and other RNA-based therapies. Discovery, testing, and optimizing of lead candidates on mouse model from above. Time-frame: 3-5 years (from discovery to pre-clinical and proof-of-concept work) $2 million (funded in large part by the Principal Investigators (PI) through NIH funding and biopharma industry) DRUG DISCOVERY AND DEVELOPMENT – IN PROGRESS Goal: Getting pre-clinical work ready for translation into clinical application ( therapies for patients) PAUSED Small-molecule screening to find compounds that counteract the ribosome assembly defect in SDS. Test and optimize lead candidates on the mouse model from above. (Dr. Allan Warren, Cambridge, UK) PLANNING Drug repurposing (high-throughput screening). Test and optimize lead candidates on the mouse model from above. IN PROGRESS Collaboration with EveryCure includes SDS in its screen. Time frame: 3-5 years (from discovery to pre-clinical and proof-of-concept work) $2 million (funded in large part by the Principal Investigators (PI) through NIH funding and venture capital) NEW TARGET IDENTIFICATION – PLANNING Identifying additional downstream targets using proteomics and other -omics 2-4 years $500,000 (leveraging NIH and industry funding) PHASE I (DRUG) CLINICAL TRIAL 1-2 years $1 million (leveraging NIH and industry funding) PHASE II (PILOT) CLINICAL TRIAL 1-2 years $5 million (leveraging NIH and industry funding) PHASE III CLINICAL TRIAL 3-5 years $10 million (leveraging industry funding) Why do we need models for SDS? Model systems, such as mouse models, are developed to replicate a disease in an organism other than humans. That way, researchers can investigate various aspects of disease without having to burden a human patient. Different research questions need different types of models, from yeast cells to worms to flies to mice and more. For therapy development, we need a model system that is as close as possible to humans but is practical to work with in order to save time. Mouse models have become the gold standard in research. Unfortunately, developing a mouse model for SDS has proven historically difficult, because the gene responsible for most cases of SDS, SBDS, is essential. Mice with too little SBDS are not viable, and mice with some have no SDS symptoms (phenotype). As one of our first major projects, we sat out to try all options to create a mouse model for SDS. This work is still ongoing and we are committed to leaving no stone unturned. Roadmap to Therapies and Cures for SDS 1. Build humanized mouse and other SDS models that has the most common and relevant human mutation is viable and shows relevant phenotypes designed for testing a wide range of therapeutics 2. Characterize the models how does the humanized gene behave in the model what symptoms can be observed (what, when, where) develop measurable biomarkers for testing therapies 3. Test and optimize therapies on the model gene editing, base editing, and prime editing therapies antisense oligonucleotide (ASO) and other RNA therapies small molecules and repurposed drugs 4. Safety and Efficacy Studies test efficacy and safety of discoveries on suitable models to prepare for clinical trials 5. Patient Clinical Trials present results of model work to the FDA and international regulatory agencies to proceed with clinical trials in human patients seek FDA and international approval Goal: SDS Therapies and Cures

The new Patient Perspectives on Gene Therapy Trials survey is now available on SDS-GPS, our Global Patient Survey and Collaboration Program. Join today! Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month's SDS Spotlight, Eszter Hars, Ph.D. introduces two opportunities for patients and families to help shape how gene therapy for SDS gets developed — before trials open. Gene therapy for SDS is advancing. Early lab studies are promising. The tools — base editing and prime editing — are already being tested for other blood disorders, in real people. For SDS, researchers have shown they work in early lab studies. No clinical trial yet — but we are closer than ever. And this is the moment when your voice can make the biggest difference. Why Patient Perspectives Matter — and Why Now When researchers consider and plan gene therapy trials for rare disorders such as Shwachman-Diamond Syndrome (SDS), they must make dozens of decisions that go far beyond science alone. Who should be eligible? Should a therapy be offered preventively — before complications develop — or only when the situation becomes more urgent? How do patients and families weigh the risks of an experimental therapy against the risks of waiting? What would make a patient or family say yes, and what would make them say no? You can't find the answer to these questions in a lab or medical records. Only people who live with SDS every day can provide the answers. And for a rare disease like SDS — where the patient population is small and every voice counts — structured, systematic input from the community is essential. Patient perspectives are used in all key aspects of research in therapy development: The FDA uses patient input to inform benefit-risk assessments when reviewing new therapies. Drug developers use it to design clinical trials, select meaningful endpoints (decide what to measure), and understand what the patient population actually needs. Researchers cite it in grant applications, funding requests, and regulatory applications to demonstrate that their work is grounded in patient-identified priorities. The time to share your perspective is now, during the trial planning stage, when the answers can still influence who is included, what outcomes are measured, and how the therapy is delivered. Once a trial is underway, it is much harder to change course. Opportunity 1: The SDS-GPS Gene Therapy Perspectives Survey SDS Alliance has launched a gene therapy perspectives survey on SDS-GPS — our IRB-approved, safe and secure global patient survey program. The survey asks about your priorities, your concerns, and your perspectives on three approaches being studied for SDS. It takes about 45 minutes and covers questions researchers and regulators actually need answered — including how families think about preventive versus reactive approaches, what risks feel acceptable, and what it would actually take to say yes to participating in a clinical trial. Your responses will go to researchers working on SDS gene therapy and help shape trial design. The survey is live now. Once you log in to SDS-GPS, it will pop up automatically, or you can find it on your dashboard under surveys. You may have also received an automatic email about it. If you are not yet on SDS-GPS, setting up your account is free and takes about 30–60 minutes to fill out the baseline surveys. You can take breaks anytime. If available, upload your genetic testing report along the way, or later if you prefer. Not Sure Where to Start? Explore the Interactive Guide First If you would like to understand the gene therapy landscape before taking the survey, our free interactive guide walks you through the three approaches being studied for SDS — in plain language, with animations and visuals, at your own pace. No scientific background needed. Our new interactive guide to gene therapy, specifically for SDS patients and families. The guide and the survey are designed to work together. The scenarios and concepts in the survey match those explained in the guide. Exploring the guide can help you be more familiar with the terms and concepts mentioned in the survey, but it's not required. If you want to dive even deeper, read the July blog post on gene therapy for SDS, which includes a video on the basics of SDS genetics and an expert introduction to gene and prime editing. Opportunity 2: The GeneTX Study at St. Jude Children's Research Hospital SDS Alliance is supporting recruitment for GeneTX — an IRB-approved research study led by the Bioethics Program at St. Jude Children's Research Hospital. The study aims to understand what gene therapy information and support people with Shwachman-Diamond Syndrome and their families need most. Participation involves a 45–60 minute tele-interview. Participants age 18 or older may participate independently. Participants ages 8–17 participate with a caregiver present. All participants receive $100. Who may be eligible: A person age 8 or older with SDS, or a caregiver of a person with SDS The person with SDS has never been offered gene therapy (true for the whole SDS community at this time) International families are welcome. Participation is voluntary and does not obligate you to anything further. To learn more or express interest, contact the GeneTX study team at genetxstudy@stjude.org. SDS Alliance can also make an introduction — reach out to Eszter at ehars@sdsalliance.org. All September Resources at a Glance Gene therapy perspectives survey: Log in to SDS-GPS — survey appears automatically Set up an SDS-GPS account: www.sdsalliance.org/sds-gps-join Interactive gene therapy guide: www.sdsalliance.org/gene-editing-explainer GeneTX study: genetxstudy@stjude.org More about SDS-GPS: www.sdsalliance.org/sds-gps Questions? Contact us anytime at connect@sdsalliance.org Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. Every August, families navigating Shwachman-Diamond Syndrome (SDS) face a familiar challenge: a new school year brings with it a new set of teachers, counselors, and administrators who have likely never heard of SDS. How do you help them understand — quickly, clearly, and in a way that also shows them who your child really is? This month, SDS Alliance is launching two new free resources to help. Both were built with and for the SDS community, and both are available now. In this episode of SDS Spotlight, I share brand-new resources we developed for you — patients and families living with SDS — to help you get ready for the new school year. A Personalized School Letter — Built from a Community Idea The SDS School Letter Tool was inspired by Angela, a mom in the SDS community who had already solved this problem for her own son years ago. She created a trifold she could hand to his school team — something personal, portable, and practical. That idea stuck. SDS Alliance built it into a tool that any patient or family can use. Here is how it works: you answer a few questions about the patient, select relevant accommodations from a curated list, add one or more photos, and a few details about their personality and hobbies. The tool generates a personalized, ready-to-share document — either a multi-page letter or a double-sided trifold layout — as a downloadable PDF. The letter introduces the whole person, not just the diagnosis. Teachers and school staff get the medical context they need alongside a sense of who this student actually is. The tool is published on Zenodo under an open license — if you work with another rare disease community and would like to adapt it, the files are freely available. Suggested citation: Hars E. (2026). SDS School Letter Tool. SDS Alliance. https://doi.org/10.5281/zenodo.21324915 A Comprehensive School Guide for Patients, Families, and School Teams For families and care teams who want to go deeper, SDS Alliance has also published a comprehensive school guide: Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. The guide covers: How SDS affects learning, attendance, and daily school life Navigating IEPs, 504 plans, and other formal accommodations Communicating effectively with teachers, nurses, and administrators Managing SDS-related challenges at school — neutropenia, fatigue, pain, cognitive differences, and more Transitioning from pediatric to adult care, and from school to college or work Supporting adult patients navigating workplace accommodations The guide was developed as part of Project PACER — SDS Alliance's PCORI-funded initiative to build comprehensive, community-informed resources for the SDS community. It was clinically reviewed by Dr. Thea L. Quinton, pediatric neuropsychologist at Cincinnati Children's Hospital, and her colleagues who work directly with school teams. It is written for three audiences: patients, families, and school professionals, so that a teacher can pick it up and understand SDS in the context of their classroom, while a parent can use the same document to prepare for an IEP meeting. The guide is free, open-access, and published on Zenodo with a permanent DOI — meaning it is citable, shareable, and will remain available long-term. Suggested citation: Hars E. (2026). Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. SDS Alliance. https://doi.org/10.5281/zenodo.21316992 How These Resources Came to Be Both resources were developed as part of Project PACER — SDS Alliance's initiative to build the infrastructure of knowledge and community engagement that rare disease research depends on. Funded by PCORI (Eugene Washington PCORI Engagement Award EASO-42419), PACER is creating a suite of resources that center the patient voice at every step. The school letter tool and guide reflect our belief that the best resources for the SDS community come from the community itself. Angela's trifold served as the inspiration. Dr. Quinton's clinical expertise gave the guide professional depth. The families who reviewed it and provided feedback made it come to life. This is how our community works — solving problems together and sharing the solutions with everyone who comes after. What Comes Next — and How You Can Help The Essential Guide — Living with Shwachman-Diamond Syndrome: The Essential Guide for and by Patients, Families, Clinicians, and Researchers — is the larger resource Project PACER is building. It will cover every major aspect of SDS across 29 chapters, with clinical expert overviews, research updates, and patient and family stories at the center of each one. School, work, and daily life accommodations is one of those chapters. But there are many more. We are currently collecting patient and family stories across a wide range of topics — from neutropenia and bone marrow monitoring, to dental health, cognitive development, emotional wellbeing, transplant experiences, and more. You do not need to be a writer. You do not need a dramatic story. You just need a relevant lived experience and a willingness to share it, on your own terms. If something resonates, reach out to Eszter directly at pacer@sdsalliance.org. We will figure out together whether your story is the right fit. All August Resources at a Glance School letter tool: www.sdsalliance.org/school-letter School guide: www.sdsalliance.org/school-guide DOI: https://doi.org/10.5281/zenodo.21316992 All SDS Alliance guides: www.sdsalliance.org/guides Share your story for the upcoming Essential Guide: www.sdsalliance.org/pacer-story Project PACER: www.sdsalliance.org/pacer Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Your Data, Working Harder: SDS-GPS Joins RDCA-DAP If you are participating in SDS-GPS, you've already taken an important step toward powering research and clinical trials that are being developed now. This month, that contribution of your lived experience just got bigger. SDS-GPS data is now flowing into RDCA-DAP (the Rare Disease Cures Accelerator–Data and Analytics Platform), one of the largest integrated data platforms for rare disease research in the world. RDCA-DAP is run by Critical Path Institute (C-Path), a nonprofit that works with the FDA to help researchers design better clinical trials for rare diseases. Our research program, SDS-GPS, hosted on Matrix (built by Across Healthcare), now feeds de-identified SDS-GPS data into RDCA-DAP. This is a brand new integration, and we are excited to be part of the pilot program alongside two other rare disease communities. This has been a long way coming, as we have been exploring collaboration opportunities with RDCA-DAP for several years. If you missed their introduction to our community at SDS POPS 2023, check it out here. Why this matters Rare disease research keeps running into the same problem: patients are hard to find, and their data is hard to align. Any single disease, including SDS, may only have a few hundred documented patients worldwide. That makes it nearly impossible for any one registry, or any one research team, to gather enough data on its own to answer the questions that matter most: how does SDS actually progress over time, and what should researchers measure to know if a treatment is working? RDCA-DAP was developed to solve exactly that problem. It standardizes data from different sources such as registries, natural history studies, patient-reported data, survey data, and clinical trials, so researchers can study it together. Once SDS data is part of that system, researchers anywhere in the world can use it to study disease progression and help identify the kind of measurable endpoints that future SDS clinical trials will need. This has always been the vision behind SDS-GPS. We don't just want to collect data, but build the infrastructure to share it responsibly, so that the information you contribute can go further and help drive real progress toward treatments, including the gene therapies and other approaches our community desperately needs. Rare disease research keeps running into the same problem: patients are hard to find, and their data is hard to align. At SDS Alliance, we've always wanted to close that gap while building the infrastructure to pool data with others, so SDS patients' contributions can go further, faster. — Eszter Hars, Ph.D., CEO of SDS Alliance What this means for you You don't need to change anything on your end. You can continue using SDS-GPS as you have so far. As always, none of your personal information is ever shared. Only de-identified data, meaning nothing that identifies you personally, moves into RDCA-DAP. If you'd like more detail on how your data is protected in SDS-GPS, check out our recent blog about data privacy here: Your Data Is Safe: SDS-GPS Privacy. What does change is the reach of what you have or will contribute. Data that once lived only in our registry is now part of a shared research infrastructure, alongside data from other rare disease communities, to turn patients' and families' lived experience into treatments. What we're working on next This integration is a meaningful step, but other challenges in the rare disease field remain: how do we connect the same patient's data across multiple, separate datasets, without sharing or exchanging identifying information? We're pursuing collaborations with other SDS data holders, and exploring privacy-preserving approaches that would let researchers analyze data across multiple datasets and across multiple time points, without ever seeing who any of it belongs to. Options include shared identifier systems already used elsewhere in rare disease research, like NIH's Global Unique Identifier (GUID) or the newer Clinical Research ID (CRID), as well as third-party tokenization tools, like those offered by Datavant, that are built specifically for this purpose in health data. SDS Alliance is committed to addressing the infrastructure gaps in order to accelerate therapy development for SDS - to give our families more birthdays to celebrate. If you're a researcher, data holder, or organization interested in exploring this work with us, we'd love to hear from you. Reach out at gps@sdsalliance.org. Haven't joined SDS-GPS yet? If quality-of-life data that reflect what SDS actually looks like day-to-day, or our upcoming survey on patients' perspectives on gene therapy, weren't reason enough, here's one more: joining now allows your data to be part of an international research infrastructure that helps move treatments forward, while safeguarding your privacy. Joining is free. It takes about 30-60 minutes to fill out the baseline surveys, and you can take breaks anytime. All you need is a device with internet access. If you have your genetics report available, please consider uploading it when prompted. No medical knowledge required. Make your voice count. Questions about this survey or SDS-GPS? Visit the information page at www.sdsalliance.org/sds-gps or contact us at gps@sdsalliance.org. 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