Access no-cost genetic testing and other diagnostic tools, here. Get Tested for SDS Timely and accurate diagnosis of SDS is critical for patients to access optimal care, education, and community support. We have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are. This page is dedicated to our Probably Genetic sponsored genetic testing program, available to people in the United States, in all states except New York. If this program doesn't work for you, please check out or other resources or email us at connect@SDSAlliance.org . We are excited to announce our new collaboration with Probably Genetic as a patient-finding partner for our community. If you or anyone you know is looking for a trusted genetic testing resource, Probably Genetic runs a no-cost, low-barrier testing program for individuals experiencing primary immunodeficiency disorders. Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access affordable genetic testing. The company has recently launched a no-cost genetic testing program for individuals with primary immunodeficiencies. Eligibility is determined by a brief, user-friendly quiz about the patient’s symptoms, and testing only requires a saliva sample collected at home. Clinical-grade whole exome sequencing reports all pathogenic, likely pathogenic, and variants of uncertain significance associated with the patient’s reported symptoms. Apply to determine if you are eligible using their symptom checker below, or use this link. To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance. How it works Go to the Symptom Checker website on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes. The Probably Genetic team will thoroughly evaluate your Symptom Checker response to assess your eligibility. This typically occurs within one to two weeks. If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. We can also assist you in scheduling a USPS pick-up. Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those that are not immuno-related. If genetic testing is offered, you will have access to post-test genetic counseling with a board-certified genetic counselor. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results. View the status of your Symptom Checker submission and/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data. Take the Symptom Checker below, or use this link. The Probably Genetic team is always open to feedback so the program is as successful as possible for this community!

This page is dedicated to patients who passed away from SDS and its complications. A space for SDS families to keep their loved one's memory alive. And for the SDS community to acknowledge that SDS is a serious, life-threatening disease for which therapies and cures can't come soon enough. In Loving Memory... This page is dedicated to beloved community members we lost to SDS and its complications. While we always try to celebrate any victories in our quest for therapies and cures, the reality of today is still that SDS is life-threatening and is claiming the lives of too many. Every single person lost is one too many, and we won't stop until a bright future is available to all people affected by SDS. Here, you can read the stories of patients lost and witness the love of their loved ones left behind. This is a place to keep their memory alive. Gabriel (age 17) Jennifer (age 37) Rycroft (age 16 months) Moe (age 41) Elijah (age 25) Niamh (age 44) Jason (age 10) Tavi (age 4 months) Melissa (age 15) Andrew (age 3 months)

Find an SDS community around the globe to access local resources in your local language. Connect to stay in touch and keep informed about the latest information on Shwachman-Diamond Syndrome. SDS Alliance Communities Around the Globe We envision a world where SDS is a manageable condition and all patients are able to live a full life to their full potential. Since SDS is a rare and complex disease, this vision relies on patients, caregivers, doctors, researchers, regulators, and other stakeholders working together. Sharing information and learning are critical components in our pursuit of therapies and cures for Shwachman-Diamond Syndrome. That is why we are committed to serving SDS communities around the globe, with information and resources to meet their local needs - in their local languages. Visit our Global SDS Community pages linked below. Don't see your country or region represented? You can help! We are here to help YOU build community and develop resources tailored to your country/region! Email us today to get started at connect@sdsalliance.org .

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

Fundraisers Thank you all for coming to our fist fundraiser and for your support. The paint party on rare disease day 2020 was so much fun! Let's do it again next year! Registration Closed Share

Shwachman-Diamond Syndrome (SDS) news from around the globe! SDS & Science News SDS & Science Snapshots Our weekly blog to keep you up-to-date on cutting-edge publications and advocacy advances, relevant to SDS 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. 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. 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. 1 2 3 4 5 SDS Science News Updates on specific projects relevant to science, research, and therapy development 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. 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. Jun 4 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. Apr 28 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. Mar 5 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, Feb 1, 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 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 Dec 8, 2024 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... Aug 8, 2023 SDS & Science Snapshots (2023-03-25) In this issue: New proof-of-concept article on RNA Therapeutics and Base/Prime Editing for SDS; And, a review of diagnostic testing for... Mar 26, 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... 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... 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. Dec 3, 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)... 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 Aug 29, 2022 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... 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... 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. Jun 13, 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... Jan 15, 2021 Bone marrow-on-a-chip provides new research directions for Shwachman-Diamond syndrome Boston Children's Hospital's Discoveries Blog features this exciting story about SDS research. Read the full story, here. In a research... Jan 27, 2020 The North American SDS Registry celebrates its 10 year anniversary by giving back to the community The SDS Registry celebrated by hosting the SDS Family Day (conference) in Boston, MA, US. A summary of the event was published by the SDS... Dec 20, 2019

Join the network of professionals, doctors, researchers, patients, and caregivers to #CureSDS. Join the Network We envision a world where SDS is a manageable condition and all patients are able to live a full life to their full potential. Since SDS is a rare and complex disease, this vision relies on patients, caregivers, doctors, researchers, regulators, and other stakeholders to work together. We are currently updating our questionnaire and tools for new members. While under construction, please email us at connect@SDSAlliance.org for assistance.

Our philosophy, commitment, and financial reports are posted here. Finances Finances Shwachman-Diamond Syndrome Alliance is a US-based nonprofit 501(3)c corporation, serving the global SDS community. Our EIN and IRS determination letter is available, here . 100% of your donation goes into an account dedicated solely to research and therapy development. We pride ourselves on maximizing the impact on SDS patients' and families' lives through running a professional, sustainable, and efficient nonprofit research organization with dedicated, passionate staff. All our operation expenses, including staff compensations, are covered by a separate account with funding from sources such as grants and private dedicated donors. Every single penny of YOUR donation — community donations and fundraisers — goes specifically towards SDS research and therapy development. Our SDS research and therapy development programs may be run in-house, by partnering with research institutions, or by engaging service providers (such as CROs), depending on which route is most efficient. The goal is always to move toward a bright future for SDS patients and their families, following our strategy and roadmap . Our leadership team works highly strategically to ensure that your donation leads to a much bigger impact — bigger than the amount of the donation itself can fund. How do we do that? We use your donation to create preliminary results, critical research tools, and infrastructure, and use them to (1) enable more research and to accelerate them, and (2) to get much bigger grants, from the governmental funding agencies, private foundations, or industry sposors. This strategy continues to supercharge our progress. Further, our leadership team has the expertise to attract world-class partners to put up their own funding for our project — the mouse model project with The Jackson Laboratory being a prime example. Documents IRS Form 990 FY 2023 Form 990 Filing FY 2022 Form 990 Filing FY 2021 Form 990 Filing FY 2020 Form 990-N Other Documents US State Registration Disclosures

When dealing with a rare disease like Shwachman-Diamond Syndrome, it can be difficult to find a medical provider with the right knowledge and intuition to guide your care. This page is dedicated to making it easy, wherever you are. SDS Specialists and Centers of Excellence The SDS Alliance is committed to increasing the availability of clinical services for people with SDS and related conditions, decreasing the diagnostic odyssey, and increasing the standards and access to care.⁠ ⁠ Each Specialist and Center of Excellence is committed to providing exceptional care to the community through collaboration with patients and their families. They support this commitment by:⁠ ⁠ Offering multidisciplinary care to manage a broad range of symptoms. Specialties include at a minimum hematology, genetics, and GI; additional specialties may include immunology, endocrinology, orthopedics, and psychology. Supporting the transition from pediatric to adult care Committing to diagnosing using internationally peer-reviewed criteria, including pursuing a genetic diagnosis and supporting sibling testing . Facilitating access to care and education for people in underserved communities, with a focus on DEI. This includes Offering telehealth access in all geographies where it is possible. Engaging in collaborative resource sharing and networking to improve patients’ access to care, including supporting providers new to the SDS field in areas that lack access to specialty resources. ⁠Contributing and participating in SDS research and facilitating the dissemination and application of advances, including Enabling processes for each patient to engage in research activities, including Encourage all patients to sign up for the SDS-GPS program (the only Global Patient Survey and Collaboration Platform, now available in 5 languages and counting) Commitment to evidence-based care and contributing to the research ecosystem where possible, including a commitment to data sharing and publishing Demonstrate ongoing commitment to continuing education Attending key professional conferences to teach and learn, including the biannual SDS Congress, ASH, and others A demonstrated commitment to community education , such as participation in SDS POPS - the annual virtual Patient advOcacy and Partnering Summit (SDS POPS) hosted by the SDS Alliance Participation in and/or organizing of multidisciplinary case discussions Where possible, provide training opportunities for students and healthcare professionals. To nominate a center or specialist, please email us at connect@SDSAlliance.org . The list and map below are currently under construction. We have many more contacts around the world. Please reach out to us via email at connect@sdsalliance.org if you need assistance finding qualified SDS specialists near you.

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 .

An overview of a wide range of research opportunities for Shwachman-Diamond Syndrome focused on advancing the knowledge of the lived experience with SDS and therapy development for Shwachman Diamond Syndrome. Opportunities to P articipate in Research & Clinical Trials Registries and Natural History Studies are critical for progress in clinical care and therapy development. We encourage all patients & families to participate in all registries available to them! See all SDS registries! SDS Alliance has been actively pursuing efforts to implement platforms and strategies to unite the existing registries and/or form collaborations collect and build a large, powerful set of genomic data to drive research add patient voices through a new, patient-driven, global patient survey and collaboration platform (data hub), and make all data more widely available to the larger research and transnational community. We are excited to announce that the program has come to live and is open for enrollment! SDS-GPS: a unique patient-powered global program Learn more about SDS-GPS All Regsitries SDS Patient LENS Study The SDS Alliance is launching an interview-based qualitative research study to learn about and document the Lived Experiences, Needs, and Stories of the Shwachman-Diamond Syndrome patient and caregiver community. The results of the study will help inform the focus areas of the EL-PFDD meeting with the FDA, the resulting Voice-of-the-patient report, and our research and programs priorities for years to come. Learn more about LENS

FREE guides and reports for in depth information on all aspects of living with Shwachman-Diamond Syndrome (SDS)! Guides and Reports Click to read, open, or download. If you need a hard copy, email us at connnect@sdsalliance.org to ask. Many of our resources are published on Zenodo and are citable. Visit our Zenodo community page to see all. Free download Go to Guide School Success with SDS A Guide for Students, Families, and School Teams 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). Free download Go to Guide Fundraise Your Way to #CureSDS A Guide for Patients, Families, and the whole SDS community 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 Free download Go to Report Voice for the Patient Report The official report from the Externally-led patient Focused Drug Development Meeting held June 4th, 2025 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.