Guides and Reports

Shwachman-Diamond Syndrome (SDS) is a rare inherited bone marrow failure syndrome that affects multiple organ systems — including the immune system, digestive system, skeleton, and brain — and presents significant challenges in the school setting. Despite its serious impact on learning, cognition, and daily functioning, most teachers, school counselors, and administrators have never encountered SDS before. Families are often the primary source of information for their child's school team. This guide was developed by SDS Alliance to provide practical, evidence-informed tools and strategies for students with SDS, their families, and their school teams. It covers the physical, cognitive, and psychosocial dimensions of SDS in the school context; how to navigate education plans and accommodations in an international framework; neuropsychological evaluation and its role in school support; key educational transitions from early childhood through college; and sample documents including a physician letter template, a family summary sheet, and accommodation language ready for use in formal education plans. A companion resource appendix covers finding neuropsychologists, understanding school rights, and managing learning differences, mental health, and social skills. A companion tool to create a letter to introduce the student to the school team is available at www.sdsalliance.org/school-letter The guide is written for an international audience. Where specific legal frameworks are referenced — such as the IEP and 504 plan processes in the United States — they are labeled as country-specific examples. The principles and strategies are broadly applicable regardless of country of residence. This guide is a companion document to Living with Shwachman-Diamond Syndrome: An Essential Guide, developed by SDS Alliance as part of Project PACER (PCORI Award EASO-42419), and inspired by the Voice of the Patient Report for Shwachman-Diamond Syndrome (Hars & Merker, 2026; doi: 10.5281/zenodo.20126868).

Shwachman-Diamond Syndrome (SDS) is a rare, multi-system genetic disorder affecting the immune system, bone marrow, pancreas, and other organs. There is no approved treatment. Accelerating therapy development for SDS requires not only scientific progress but sustained community engagement — including the active participation of patients, families, and supporters in fundraising efforts that signal community strength to research partners and funders. This guide, published by SDS Alliance — a US-based 501(c)(3) nonprofit organization dedicated to driving research and therapy development for SDS — provides a practical, accessible framework for community fundraising. It covers eight fundraising options ordered by effort level, from employer gift matching to organizing independent local events. It also includes storytelling guidance with an example and fill-in template, ready-to-use social media templates, an appeal letter template, a step-by-step guide to setting up a peer-to-peer fundraising page, and an overview of tools and support SDS Alliance provides to community fundraisers. The guide reflects SDS Alliance's broader philosophy that community fundraising in rare disease is not merely a revenue strategy but a form of clinical trial readiness infrastructure. The size, engagement, and organized participation of a patient community are signals that biotech partners, academic researchers, and major funders actively evaluate when deciding whether to invest in a rare disease indication. This is part of a series of community guides and educational resources published by SDS Alliance in support of its mission to reach clinical trials for SDS by 2030 to give SDS families more birthdays to celebrate. KEYWORDS: Shwachman-Diamond Syndrome, SDS, rare disease, patient advocacy, community fundraising, peer-to-peer fundraising, clinical trial readiness, rare disease research, gene therapy, patient engagement, nonprofit, community engagement RELATED LINKS: Guide landing page: https://www.sdsalliance.org/fund-guide SDS Alliance fundraising page: https://www.sdsalliance.org/fundraise SDS Alliance website: https://www.sdsalliance.org

This Voice of the Patient Report summarizes the experiences and perspectives of patients and caregivers living with Shwachman-Diamond Syndrome (SDS), shared during the Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting held online and in Cincinnati, OH, on June 4th, 2025. The meeting was convened by the Shwachman-Diamond Syndrome Alliance (SDS Alliance) and attended by patients, caregivers, clinicians, researchers, and representatives from the US Food and Drug Administration (FDA). SDS is a rare, life-threatening genetic disorder that causes bone marrow failure, immune deficiency, exocrine pancreatic insufficiency, and a significantly elevated risk of leukemia, among other serious complications. There are currently no disease-modifying therapies for SDS. The report documents patient and caregiver perspectives on the burden of living with SDS, current treatments and their limitations, and priorities for future therapy development. Key themes include: frequent and severe infections due to neutropenia and immune deficiency, and their impact on daily life; challenges with the skeletal system, mobility, and pain; digestive issues (exocrine pancreatic insufficiency), liver, and failure to thrive; challenges with mental health and cognitive impacts; the fear of leukemia and its profound impact on daily life; the burdens and benefits of hematopoietic stem cell transplant (HSCT); need for disease-modifying and leukemia-preventing therapies, and The importance of treatment tolerability and formulation, including for pediatric patients. This report was prepared for submission to the FDA and is intended to inform drug development, regulatory decision-making, and research prioritization for SDS.