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 Patient Voices Needed to Shape Gene Therapy for SDS — Two Opportunities to Make It Count SDS Alliance has launched a gene therapy perspectives survey on SDS-GPS. Learn why patient input matters at this stage of research and how to participate — including the GeneTX interview study at St. Jude. 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. 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

Swag is a fun and easy way to show your support while and raising funds and awareness. We strive to make it easy and attractive with items you will be proud to show off and help you feel part of a passionate committed community lased focused on making #CureSDS a reality. Shop for SDS Alliance Swag Swag is a fun and easy way to show your support while raising funds and awareness. It is also a fantastic opportunity to build community and work together towards our shared mission. We strive to make it easy and attractive with items you will be proud to show off and help you feel part of a passionate and committed community laser-focused on making #CureSDS a reality. We are continuously working on expanding our offerings. Please check back often and let us know if you would like to see specific items by emailing us at community@SDSAlliance.org or reaching out on Facebook. Our vendors can ship internationally. However, there may be extra charges and delays with shipping. If you are looking to get merchandise printed for an SDS Alliance fundraiser but closer to home, we are happy to share the design files. Simply email us at community@SDSAlliance.org . Shirts and more at our BONFIRE Store Available year-round. Visit www.bonfire.com/store/CureSDS Need Flyers, Brochures, and more for your next fundraising event? We are here to help. Email us at connect@SDSAlliance.org if you need hard copies. Flyer: What is Shwachman-Diamond Syndrome Personalized fundraising tools , such as flyers, cards, and fundraising web pages! We are here to help! Email us at connect@SDSAlliance.org .

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.

A large fraction of the Shwachman-Diamond Syndrome (SDS) community will need a bone marrow transplant (aka stem cell transplant) in their lifetime. You can make a life saving gift if you match a patient by registering on a bone marrow registry near you, such as Be The Match, or DKMS. Save a Life through stem cell donation SDS patients are at high risk of needing a life saving bone marrow / stem cell transplant during childhood, young adulthood, and beyond. Currently, it is the only curative treatment for several life threatening bone marrow complications of SDS, including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), aplastic anemia, and bone marrow failure. About 1 in 3 SDS patients will need a bone marrow transplant by age 30, for a chance to survive. Therefore, we passionately support bone marrow and stem cell donation programs, as our patient community critically depends on healthy individuals to save our loved-ones lives. 70% of patients don't have a fully matched donor in in their family, and will rely on generous donors like you. See this beautiful and moving story from a family in NY, aired on 2/17/2023 on ABC7NY . To sign up to be on the national (US) bone marrow registry through Be The Match, please sign up through the link below. You need to be in good health and between the ages of 18 and 44 in order to qualify for free. More details are available on the sign-up page. https://join.bethematch.org/SwabForSDS Alternatively, you can register with DKMS at https://www.dkms.org/, free up to age 55. Find a stem cell registry outside of the US / globally Be The Match has cooperative relationships with many other registries around the globe, allowing them to search their registries, and for them to search Be The Match when seeking a match. To view these cooperative registries and international donor centers, visit http://bethematch.org/About-Us/Global-transplant-network/ . A listing of all registries is available on the World Marrow Donor Association (WMDA) website at https://share.wmda.info/display/WMDAREG/Database . JOINING the Be The Match Registry Joining the registry involves multiple steps. It is a defining moment in a person’s life—a declaration of their values and commitment to help others. Joining the Be The Match Registry means volunteering to be listed as a potential blood stem cell donor, ready to help any patient in need of a life-saving donation. It’s easy to join the registry. All it takes is a simple cheek swab. You need to be healthy and willing to help any patient. Because of the genetic complexity of matching donors to patients, it could be several months, or many years before you’re matched to a patient and asked to donate. Being on the registry is like being on the world’s best waiting list. You could be someone’s only genetic match—their only hope for a cure. FIVE STEPS TO SAVE A LIFE Donating isn’t just something you do—joining the registry is a promise to stay committed and donate when needed. Register online – Answer simple questions about your medical history to make sure you meet health guidelines . Receive a cheek swab kit by mail in about 3-7 business days. Swab your cheek and return the kit – Your sample will be tested and your genetic type will be added to the Be The Match Registry. Stay committed while you wait to be matched – Because of the genetic complexity of matching donors to patients, it could be several months or many years before you’re matched to a patient. Say “Yes” when asked to donate – Patients and their families are counting on you to keep your promise to donate if needed. You could be someone’s only hope for a cure. PATIENTS IN NEED Patients in need of a life-saving blood stem cell transplant count on Be The Match to find them a genetically matched donor. Every three minutes, someone in the United States is diagnosed with a blood cancer. Right now, thousands of patients with blood cancers and other deadly diseases are desperately searching for their genetic match; someone willing to donate life-saving blood stem cells to be their cure. Seventy percent of patients do not have a fully matched donor in their family. They depend on Be The Match to find an unrelated blood stem cell donor. THE NEED FOR YOUNG ADULT DONORS Young adult donors are especially needed to help patients in need of a life-saving blood stem cell donation. Young adult donors have the healthiest, most robust blood stem cells, which produce the best results for patients. When given a choice of genetically matched donors, transplant doctors choose younger donors 85% of the time. We need healthy young donors to replace older registry members as they age off at 61. The vast majority of donors say it was worth it to save a life, and they would do it again. HOW BLOOD STEM CELL TRANSPLANT WORKS Donors want to understand how a transplant works so they can easily explain how their donation could save someone’s life. Your healthy blood stem cells can be a cure for someone with blood cancer or other deadly disease. A blood stem cell transplant works by replacing the patient’s diseased blood stem cells with healthy cells from a genetically matched donor. The transplant replaces the patient’s entire blood and immune system. Donors and patients need to be a close genetic match. Matching is based on genetic markers called human leukocyte antigen (HLA). Because genetic markers used in matching are inherited, donors are most likely to match someone who shares the same ethnic background. Genetic type used to match donors and patients is much more complex than matching blood type. In fact, they don’t need to be the same. The patient’s blood type will change to the donor’s blood type after transplant. HOW DONATION WORKS Donors want to understand how the donation process works so they can be confident in their decision to donate. There are two donation methods: peripheral blood stem cell (PBSC) donation, and marrow donation. The patient’s doctor decides the donation method that is best for the patient. PBSC Donation Most donors (75%) are asked to provide blood stem cells collected from the circulating blood. This is called a peripheral blood stem cell donation, or “PBSC donation.” PBSC is a nonsurgical procedure, called apheresis. It’s similar to donating platelets. For five days leading up to donation, the donor is given shots of a drug called filgrastim that increases the number of blood-forming stem cells in the bloodstream. On the fifth day, blood is drawn from one of the donor’s arms and circulated through a machine that filters out the stem cells and returns the remaining blood to the donor. Most donors visit with friends or binge watch TV during the procedure. Side effects and recovery Leading up to a PBSC donation, donors may experience headaches or body aches several days before collection due to side effects of the filgrastim. These side effects go away shortly after the donation. PBSC donors are typically back to their normal routine in 1 to 2 days. Most PBSC donors report a full recovery within 7 to 10 days of donation. Be The Match follows up with donors until they report a full recovery. MARROW Donation Some donors (25%) are asked to provide blood stem cells collected from bone marrow. Marrow donation is a surgical procedure that takes place in a hospital operating room. The donor receives anesthesia and feels no pain during the procedure. Doctors withdraw blood stem cells from small punctures in the back of the donor’s pelvic bone. Side effects and recovery Discomfort during recovery varies from person to person. Side effects may include back pain, fatigue, headache or bruising for a few days or weeks. Donors are typically back to their normal routine in 2 to 7 days. The median time to full recovery for marrow donors is 20 days. ETHNIC BACKGROUND Be The Match is committed to addressing this disparity by recruiting donors who increase diversity of genetic types underrepresented on the registry. Patients are most likely to match donors who share the same ethnic background because genetic traits used to determine a match are inherited. Because some tissue types are uncommon or rare, there are still many patients who can’t find a match. You might be the only person who could be someone’s cure. Some ethnic groups and multiracial individuals have more complex tissue types than others, which makes it harder to find a match. Children with parents from different ethnic backgrounds are inheriting new and unique genetic combinations. LIKELIHOOD OF FINDING A MATCH Be The Match recognizes ethnic background contributes to a patient’s likelihood of finding a match on the Be The Match Registry. We are committed to sharing this information to motivate more people to join. Given the current makeup of the Be The Match Registry, the likelihood of finding a match for patients in need of a transplant ranges from 23-77% depending on patient ethnic background. Improving the ethnic diversity of the registry improves all patients’ odds of finding a life-saving match, regardless of their ethnic background. More people are needed to join the registry so patients have a greater chance of finding a match.

A collection of podcasts, broadcasts, books, social media, films, and art projects relevant to Shwachman-Diamond Syndrome and Rare Disease. Podcasts and other Media relevant to SDS and Rare Disease Today, the world wide web is rich with all sorts of media enriching the lives of SDS and other rare disease families. Below is a list of some highlights. If you would like to share additional resources, please email connect@sdsalliance.org . Enjoy! Podcasts (List inspired by Fanconi Anemia Research Fund) Shwachman-Diamond Syndrome (SDS) One episode on the Eureka's Sounds of Science podcast interviewing SDS patient and advocate Gracie van Brunt, with a focus on her story and music: https://eureka.criver.com/podcast/e27-my-rare-disease-does-not-define-me Coming soon : The SDSF Live! show hosted by SDS moms Nicole Shen and Michelle Grenell of the Shwachman-Diamond Syndrome Foundation is being converted to podcast. In the meantime, it is available on their YouTube channel, here . Caregiving & Parenting Real Men Podcast - Jacks Caregiving Coalition Happy, Healthy, Caregiver Podcast Dr. Ross Greene (including an episode on Back To School during the pandemic) Business, Science, Policy Rare Perspective Podcast Rare Disease, Cell & Gene Therapy Weekly Roundup AI in Drug Discovery An Arm & a Leg Podcast Healthcare Policy Podcast Biopsychosocial / Impact / Advocacy Diverse Perspectives on Health & Illness Podcast RARE Cast Rareshare Openly Rare Beyond Your DX Ten Percent Happier Meditation for Fitness Peeps Sickboy Misguided Notions Podcast Disarming Disability Nordcast (new by NORD) Patient Stories Rare in Common Once upon a Gene (by Effie Parks) Psychosocial (Kids) Be Calm Ahway Island Bedtime Stories Peace Out

Resources to raise awareness about Shwachman-Diamond Syndrome on the International Rare Disease Day. RARE DISEASE DAY 29 FEBRUARY 2024 29 February 2024 will be the 17th international Rare Disease Day coordinated by EURORDIS . On and around this day hundreds of patient organizations from countries and regions all over the world will hold awareness-raising activities. Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policymakers, public authorities, industry representatives, researchers, health professionals, and anyone who has a genuine interest in rare diseases. Watch and share our 2020 Rare Disease Day video, highlighting SDS! Rare Disease & SDS Infographic to share on social media! Available in English and Spanish, with French coming soon. Let us know if you would like to help with additional languages! To download, right-click on the image and click save. Rare Disease Day events to attend virtually (or watch later) US The White House: Rare Disease Forum Broad Institute of MIT and Harvard: Rare Disease Day 2024: Climbing Ladders to Cures in Rare Disease Research National Institutes of Health (NIH): Rare Disease Day Event US Food and Drug Administration (FDA): FDA's Rare Disease Day 2024—Dedicated to Patients and Providers More ideas to participate https://www.sdsalliance.org/post/sds-science-snapshots-2024-02-24 Official Rare Disease Day info packs Click on the icons to download the rare disease day info packs. 2020 2022

Shwachman-Diamond Syndrome Alliace's Vision and Mission: Improve patient's lives by accelerating reasearch, fostering international collaborations, and providing quality educational and awareness materials. Vision & Mission A Cure for SDS A Cure for SDS From the Founder, Dr. Eszter Hars, February 2020 “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world where SDS could just go away, life could be normal, and we could live without the fear that another shoe is going to drop… How can we get there? As a Molecular Biology PhD, a biotech executive, and the Mother of a sweet 6-year-old girl with SDS, I ponder this question every day. What is SDS? Shwachman-Diamond syndrome (SDS) is a rare disease that affects many parts of the body. Like many patients with SDS, my daughter has problems digesting and absorbing food. When she was little, every time she had my milk, she would be in so much pain that she would scream for hours, arching her back in agony. Can you imagine what that feels like to a mother? Even today, getting her to eat and grow is a constant struggle. Typical for SDS patients, my daughter also has a compromised immune system, which means a fever from a common cold can turn into a trip to the emergency room, or worse. On top of that, many SDS patients have skeletal problems. Some need their rib cages surgically expanded, just so they can breathe. Worst of all, SDS patients face a very high risk of developing leukemia at a young age―30% by age 30. Unlike leukemia in normal kids, which can be treated, leukemia in SDS patients is inevitably fatal. There is no treatment currently. It’s like living with a ticking time bomb. To mitigate the risk of leukemia, the current standard of care is bone marrow biopsy every year. The hope is to find pre-cancer clones early enough so that leukemia development can be stopped using bone marrow transplantation preemptively. However, bone marrow transplantation is a brutal process―it is a dangerous year-long ordeal and has serious long-term side effects. Bone marrow transplantation is really a last resort. Even so, biopsies cannot always catch bad clones, and bone marrow transplantation often fails to stop leukemia. A Cure for SDS What if therapy could be developed to stop blood cells from going bad and prevent leukemia development in the first place? Such therapy would correct the underlying problems of SDS and give us confidence that the bone marrow biopsy results would come back okay. We might not need bone marrow biopsy anymore! With such therapy, we would no longer have to worry about leukemia; we could expect our kids to have a normal life, as if SDS had just gone away; we could attend their graduation, dance at their wedding, and see their family grow... How wonderful would that be!? I believe that such therapy is nearly at hand. The science is there, and there are many types of therapies that can possibly get us there. These therapies have been applied successfully to several rare diseases: Sirolimus (repurposed drug) for Castleman disease Libmeldy (gene therapy) for metachromatic leukodystrophy Spinraza (antisense oligonucleotide drug) for spinal muscular atrophy Zokinvy (small molecule drug) for progeria Luxturna (gene therapy) for congenital amaurosis and retinitis pigmentosa Many more are in clinical trials (for severe combined immune deficiency, sickle cell anemia, and Fanconi anemia). Why isn’t it available for SDS? Therapy development is a complicated process that involves scientific research, disease modeling, drug development, clinical trials, regulatory approval, and patient participation. It requires many areas of expertise. We are very fortunate to have outstanding researchers and doctors who dedicate their careers to SDS, but there are still many gaps that they alone cannot overcome. The problem has to do with how medical research is funded. Before a researcher can start doing research, (s)he has to apply for a grant from a funding agency, which in the U.S. is primarily the National Institute of Health (NIH). The grant application process can take years and in the end, fewer than 10% of the applications get funded. A critical component of a successful application is early data, because the data demonstrate that the research plan is likely to succeed, and that the researchers have the ability to carry out the project. The problem with SDS research is that most researchers have never heard of SDS, let alone have sufficient data to get government grants. No data; no grant. And with no grant funding, there will be no research or early data. It’s a catch 22. Together, we can make it happen! We established the SDS Alliance to break this vicious cycle and enable therapy development. Our strategy is to: Provide seed funding to highly selected experts and help them generate early data to get government grants. Provide bridge funding to top researchers between government grants to keep research going. Partner with research institutions and companies to develop essential tools for therapy development. Organize patients to participate in research and clinical trials to enable new therapy development. Remember the successful therapies that I mentioned above? Every one of them is a direct result of these actions. The strategy works. All we have to do is replicate the success for SDS! When we succeed, we will be able to live freely without the fear of leukemia, and life will be normal as if SDS had gone away! The path is tried-and-true and YOU have the power to get us there. We need to take action NOW, because leukemia won’t wait. Please donate today. Let’s make it happen! Why isn't it available? Togethe we can make it happen! Donate

Your support helped us create and publicise the patient voice and research tools and infrastructure to enable and accelerate tehrapy development for Shwachman-Diamond Syndrome. Here are some highlights. SDS Alliance Publications Your support helped us create and publicise the patient voice and research tools and infrastructure to enable and accelerate tehrapy development for Shwachman-Diamond Syndrome. Here are some highlights. Publications in Peer Peviewed Journals From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. Hars ES, McReynolds LJ.Clin Pharmacol Ther. 2024 Dec;116(6):1377-1380. doi: 10.1002/cpt.3393. Epub 2024 Jul 22.PMID: 39039619 Click here for context Posters & Presentations at Scientific Conferences Our poster on SDS-GPS at the International Scientific Congress on Shwachman-Diamond Syndrome in Cincinnati, OH, June 2025. Publications about us and our work Case Study about our work and impact, published as part of the Chan Zuckerberg Initiative, Rare as One, Impact Report . Published online October 2025.

It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! Fundraiser October 2020 Meet The Team It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! 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 world wide. 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 world wide. Our focus is research and development: we raise funds for the most cutting edge research, build collaborations globally, and invest into critical research tools and infrastructure, now. One million steps is certainly too much for any single person. But together, the steps add up. We can get there! Register above, and you will receive an email invitation to join the challenge and track your steps through Count.it.

Join our mailing list as the first step to join our Global Network and community. You will receive a personalized welcome email with resources, newsletters, and updates every 2-3 months. Join our Mailing List and Global Network We take your privacy very seriously. We never sell or share your information outside our organization, and only use your information to customize our communications to fit your needs. You can unsubscribe anytime by clicking on the link at the bottom of the emails, or by contacting us via email at connect@sdsalliance.org .