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). 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.

Patient Advocacy and Partneting Summit. The first, global, virtual event designed to engage all stakeholders and provide meaningful education and networking opportunities to patients, scientist, medical providers, industry representatives and regulatory stakeholders. POPS Global Patient Advocacy and Partnering Summit The first global, virtual, meeting of its kind to provide patients, caregivers, scientists, physicians, and all other stakeholders with an opportunity to connect and discuss all things related to Shwachman-Diamond Syndrome research and advocacy. REGISTER HERE! Registration is now closed. To access the recordings, log in to the meeting platform (below). For assistance or to request access, email Ashley Ferreira at outreach@SDSAlliance.org. Agenda Tentative, subject to change. All times in ET (New York Time) 10:00 AM - 11:00 AM Networking Breakout rooms with prompts to help build connections. All attendees and speakers welcome! 11:00 AM - 12:00 PM Welcome and Patient Stories Welcome by Dr. Eszter Hars ➲ Mother of an SDS Patient, President & CEO, SDS Alliance Featuring three SDS community members Gracie Van Brunt , Musician/Songwriter with SDS ➲ Lisa Superina , Mother of two children with SDS ➲ Julie Martindale , Mother of a teen son with SDS ➲ 12:00 PM - 12:20 PM Lunch Break See you back here in a few! 12:20 PM - 12:45 PM Reflections from the Scientific Congress The 10th International Scientific Congress on Shwachman-Diamond Syndrome took place this April in Cambridge, UK. Dr. Eszter Hars ➲ had the privilege to attend as a parent and will share with you a high-level overview of public information with context from published literature. We won't share any unpublished results or private discussions, of course. 12:45 PM - 1:45 PM Therapeutic Targets Introduction by Dr. Eszter Hars ➲ Featured Experts: Dr. Christian Brendel ➲ DNA Targeting and Gene Therapy Approaches Dr. Valentino Bezzerri ➲ RNA and RNA-Based Targeting Approaches Speaker TBD Protein and Ribosome Biogenesis Targeting Approaches 1:45 PM - 2:00 PM Coffee Break See you back here in a few! 2:00 PM - 2:40 PM How to make the Patient Voice count Overview by Dr. Eszter Hars ➲ Featured Expert: Dr. Alexandre Bétourné ➲ The Importance, Challenges, and Impact of Data Sharing in Rare Disease 2:40 PM - 2:45 PM Closing Remarks A summary of the Summit, with opportunities to get involved at every level. 2:45 PM - 3:30 PM Networking A fun activity for all to connect. All attendees and speakers welcome! Speakers In alphabetical order Dr. Alexandre Bétourné Alexandre Bétourné, Ph.D., Pharm.D., is Executive Director for the Rare Disease Cures Accelerator-Data and Analytics Platform initiative and previously served as its Scientific Director. Dr. Bétourné works with the RDCA-DAP team to expand its reach into new diseases areas accessing new data and enhancing C-Path’s relationships within the rare disease community. He holds both a PhD and a PharmD from the University of Toulouse in France, has three patents, and has written multiple papers that intersect with several different rare disease areas. Before joining C-Path, he led a team of senior U.S. scientists, CMC and regulatory consultants at a small company developing therapies for amyotrophic lateral sclerosis (ALS). Dr. Valentino Bezzerri Dr. Valentino Bezzerri is Principal Investigator, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata di Verona, Italy. His research interest is mainly focused on the molecular mechanisms underlying the pathogenesis of inherited bone marrow failure syndromes (IBMFS), specifically in regards to the Shwachman-Diamond syndrome. In addition, my group is investigating the effect of PTC-readthrough inducer drugs (e.g. ataluren) on the restoration of nonsense mutated SBDS gene expression and function. Dr. Christian Brendel Dr. Christian Brendel is Assistant Professor of Pediatrics at Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Harvard Medical School. Dr. Brendel’s research focuses on gene therapy for inherited diseases of the blood system. He contributed to the development and clinical translation of lentiviral gene therapies for X-CGD and Sickle Cell Disease, and his current research includes genome editing and the design of new delivery tools to make future gene therapies safer, more effective and accessible. Dr. Eszter Hars Dr. Eszter Hars, Mother of an SDS patient, and Founder/President/CEO/Science Director of the Shwachman-Diamond Syndrome Alliance. Dr. Hars holds a Ph.D. in Molecular Biology from the University of Medicine and Dentistry of New Jersey, where she studied cancer and leukemia. She has over 20 years of experience in scientific research and the biotech industry. As VP of Regulatory Affairs at CytoVera Inc., a lab equipment developer for hematopoeitic stem cell banking, Dr. Hars was in charge of regulatory approval of medical devices by the U.S. Food and Drug Administration. Dr. Hars has also managed business development as well as customer relationships at Quosa Inc., an information technology company, which was acquired in 2012 by Elsevier, the largest scientific publisher in the world. Currently, Dr. Hars is President of a biotech startup that specializes in developing new tools for various new therapies, including CAR-T cell cancer therapy and beta cell replacement therapy for diabetes. Dr. Hars has been engaged in SDS community building and volunteering wherever possible, since her daughter was diagnosed with Shwachman-Diamond Syndrome (SDS) in 2015. In 2020, Dr. Hars founded the SDS Alliance, a 501(c)(3) nonprofit organization. Through the SDS Alliance, Dr. Hars is dedicated to accelerating the development of new therapies for SDS. Julie Martindale Julie Martindale is the parent of Elijah, a 17 year old with SDS. Along with her husband Mark, they have raised 11 children, many who have medical complexities. Julie has worked to assure our children's stories are told and never forgotten. She holds a bachelors degree in psychology and two years advanced training in child welfare. Lisa Superina Lisa lives on Long Island, New York, with her husband and four daughters. Her two youngest daughters, Nora and Kayla, were genetically diagnosed with SDS after an extensive diagnosis journey - read their story, here. Lisa is a Special Education Teacher at Half Hollow Hills High School West in Dix Hills, New York. She has certifications from Birth-12th grade in Special Education, General Education, and English Language Arts and has a master's degree in Literacy. Lisa is passionate about helping the SDS community by supporting research and helping families advocate for their children. She jumped into action on the very same day her first child was diagnosed, raising funding, researching resources, and connecting with SDS families everywhere, and has not stopped ever since. Her drive and creativity have inspired countless other families to engage and she is an unstoppable positive driving force toward therapies and cures for people with SDS everywhere. In her role at the SDS Alliance, she helps find and support new SDS families, identify and offer new resources for families, and develop family educational materials and events. Gracie Van Brunt Gracie Van Brunt is a 28 year old singer/songwriter/topliner from Boston, MA. When she was two years old, she was diagnosed with a rare disease called Shwachman-Diamond Syndrome which affects her bone-marrow, skeleton and pancreas. There are an estimated 5,000 known cases world-wide. She spent the first 6 years of her life in and out of the hospital battling this illness and in 2019 received a bone-marrow transplant with her brother being her doner. Gracie started singing when she was 6 and writing when she was 12 and has written over 1,000 songs in her lifetime. After attending the prestigious Berklee College of Music and majoring in Songwriting for two years, she moved to Los Angeles to pursue her songwriting and vocal career. She is now cementing her place in electronic music with her ethereal, yet sultry vocals and infectiously catchy lyricism. The acclaimed singer, songwriter, recording artist and vocal producer has garnered over 4 million streams across multiple genres, emerging as one of EDM’s most versatile and highly sought after vocalists. With the electronic genre of Drum & Bass on the rise, she is leading the charge in spreading drum and bass across the states, with her massive collaborations with DNB icons like “Deep Blue” with Kanine, which has almost 2 million streams, and “Alone” with Culture Shock, which has almost a million streams along with her most recent collaboration, “Commencement” with Dubstep Legend, 12th Planet. Gracie’s 2022 live festival performances include Insomniac’s Beyond Wonderland, Project Z and Lost in Dreams Festivals, as well as Excision’s Lost Lands Music Festival. She also performed “Live For The Highs” with GAWM to a sold out crowd at Exchange LA located in Los Angeles, California. Gracie continues to be an advocate not only in the Shwachman Diamond Syndrome Community, but in the rare disease community in general appearing on patient panels, supporting families looking for guidance and sharing her story through her music. She is the recipient of the 2013 Rare Champion of Hope Patient Advocacy Award, has performed at many different Rare Disease Conferences and Galas including multiple times at the Global Genes Conference and is an advocate for all SDS patients. Dr. Alexander Betourne Dr. Velentino Bezzerri Dr. Christian Brendel Dr. Eszter Hars Julie Martindale Lisa Superina Gracie Van Brunt Dr. Alan Warren

It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! Fundraiser October 2020 STEPS Fundraiser 2023 October 1 -7, 2023 - virtual and local options Order your customized TEAM T-shirt or general event T-shirt by 9/15 to receive them on time for the event. (Allow extra time for shipping outside the USA). Welcome to the FOUR MILLION STEPS CLOSER TO #CURESDS fundraiser page. When? October 1-7th, 2023 Where? Virtual! Run/Walk/Roll wherever you like! Plus local events hosted by community members. What? Fun!!! Fundraise and Run/Walk/Roll in your community! Why? To build community and raise funds for SDS research! How? Register here ! With this fundraising campaign, we are raising funds to accelerate therapy and cure development for Shwachman-Diamond Syndrome, a rare genetic cancer predisposition disorder that affects thousands of children and adults worldwide. Shwachman-Diamond Syndrome Alliance's mission is to accelerate therapy development and a cure for SDS - in particular, to eliminate the deadly leukemia risk in SDS - in a time frame that matters to our children and thousands of SDS patients worldwide. Our focus is research and development: we raise funds for the most cutting-edge research, build collaborations globally, and invest in critical research tools (such as the mouse project) and infrastructure, now. Four million steps are certainly too much for any single person. But together, the steps add up. Together, we can get there! And just like that, the steps challenge is upon us! See the leaderboard in the count.it app or right here on this page. Instructions on how to join the steps challenge can be found below. Have fun and see you there! How to Join the Steps Challenge [A printable version of these instructions is available here ] Thank you for joining the Three Million Steps Closer to #CureSDS fundraiser by starting a fundraiser or making a gift. Now it’s time to get moving! In the time period between October 9th-14th, count your steps with your favorite device/app. You don’t have to buy a device if you don’t already have one! Most smartphones have built-in or free pedometers/step counting/fitness apps available, and using the leaderboard tool (Count.it) is free, too! How to Register to Participate in the Challenge The registration consists of either starting a fundraiser on our donation platform (here ) or making a donation on the same page. Please don't skip this step, as this is a fundraiser to support SDS research. Note: These instructions are automatically emailed to all registered participants. Please don't distribute these instructions to non-registered participants. How to join the Steps Challenge via Count.it We partnered with Count.it to power the challenge. The Count.it platform works with most popular fitness tracking apps, including Apple Health, Fitbit, Google Fit, Garmin, Strava, and RunKeeper. PRO TIP: iPhone users have Apple Health built-in. Most Android phones have Google Fit, or it can be downloaded here free of charge. How to join our #CureSDS Group on Count.it You can join our group (called #CureSDS) via the Count.it app or on the web. You can think of “group” sort of like an event. If you don't already use a fitness tracking app, it's great to get that set up first. Option A) Join via the count.it App! Download the count.it iOS app or Android app , click "Sign Up," and follow the prompts. When asked, click the "Join a Group" option. You will be prompted to enter our group invitation code. Group Invite Code: [f60c2a55]. Or, you can go back and click on your Group Invitation Link https://www.countit.com/invite?group=f60c2a55 again, and the count.it app should be able to add you to the correct group. Option B) Join on the Web! Simply click the invitation link https://www.countit.com/invite?group=f60c2a55 and follow the prompts to login or create an account if you are new to Count.it. If the link doesn't work, paste this URL into your web browser. Alternatively to the invitation code, you may be able to search or enter our group name. The group name is #CureSDS . How to join your favorite Team within the #CureSDS Group NOTE: Teams will only be available during the challenge period starting on October 9th!!! During onboarding, you will be prompted to join your team. Simply click the Join button to do so. If you don't see your team (which may happen at the beginning of the challenge period), don’t worry, you can join later. Your steps and other challenge contributions will add up to your team as soon as you join. To see all the Teams in your group, and join one, just go to your Settings >Teams page. All available Teams within our #CureSDS group are listed here, and you can join or leave simply by clicking the button to the right of the team name. Note for team captains: Our group allows "user generated" teams. You can create a new team by clicking the " + Add Team" link at the top right of the teams list. How to join the challenges NOTE: Challenges will only be available during the challenge period starting on October 9th!!! Once the challenges are active, your step counts will automatically be added up to the challenge and your team if you join one. You're done! Have fun! Since the event is virtual, there are plenty of safe options for observing any recommended COVID-19 precautions. You can even do the challenge at home. Questions / Comments? Contact us at the SDS Alliance: connect@sdsalliance.org or +1-617-329-1838. For technical questions, please first check out the Getting Started for Users and Count.it's General FAQ .

Join the global campaign to amplify 100 VOICES to #CureSDS and be part of a group of patients and caregivers that helps accelerate research and therapy development by sharing their SDS story and their lived experience with Shwachman-Diamond Syndrome. The Voice of the Patient matters. 100 VOICES to #CureSDS Share your story to make a difference! Share your story. Make an impact. Make it count. Be part of this global movement to show strength in numbers . Show researchers and regulators that we are ready for therapies and cures for SDS. How YOU can make a difference: ... and earn a FREE T-shirt (like above) along the way... Be part of the first 100 participants in SDS-GPS Power the impact of the Patient Voice in research. Make your voice count. NEW: Join by March 15th and earn a FREE T-shirt! Explore SDS-GPS & Be part of the biggest and most impactful patient voice meeting ever: SDS PFDD In-person OR virtual . Your voice matters. Join the meeting and be part of the Voice of the Patient Report for a long-lasting impact. NEW: Register by March 15th and earn a FREE T-shirt! Register Now Learn More

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