Patient-friendly overview of Shwachman-Diamond Syndrome: clinical presentation and underlying cause. What is SDS or Shwachman-Diamond Syndrome SDS is a genetic disorder. It affects many parts of the body. You can't catch it from someone who has it. It is due to typos in the DNA, inherited from the parents. SDS affects each person differently, with changes over time. Frequently observed symptoms include: Digestive system problems and exocrine pancreatic insufficiency ➜ pain, malnutrition, slowed growth, failure to thrive, feeding issues, elevated liver enzymes Immune system problems and neutropenia ➜ frequent or serious infections, urgent hospital visits Problems with the bones and skeletal system ➜ hip/knee pain and possible restricted breathing, small stature Brain and cognitive issues ➜ learning and behavioral challenges at home and school Problems with the blood-forming system (bone marrow) ➜ bone marrow failure, low blood counts, and high risk of developing blood cancer/leukemia (e.g. MDS/AML) ➜ need for monitoring with frequent blood draws, bone marrow biopsies; some (but not all) will need a stem cell transplant. The blood-related issues are of particular concern and can be life-threatening. About 1 in 3 SDS patients develop leukemia (AML) by age 30, with a very poor prognosis. The prevention of this complication is our focus. Learn More Free Testing In SDS, a typo in the DNA prevents the creation of enough ribosomes in the cells. With not enough ribosomes, the cells in the body cannot make enough protein - one of the major building blocks of life. Ribosomes are huge protein complexes themselves that make all proteins in our cells by assembling amino acid chains, like hands building towers of Lego blocks. If we don’t have enough ribosomes, our cells struggle to make all the proteins - including enzymes - we need to live and thrive. No wonder that so many organ systems are affected. More Science Kids' Corner

A comprehensive resource for SDS Patients and Families to learn all about Shwachman-Diamond Syndrome, science, research, drug development, and more, in a variety of formats to facilitate learning. Knowledge is power. The Science Behind SDS SDS Key Concepts Series Formerly "Spotlights". 10-minute videos on key concepts in SDS and research SDS Science Spotlight: The Genetics of Shwachan-Diamond Syndrome (SDS) This spotlight video on the genetics of SDS summarizes all the basics you need to know about the genetics and inheritance of Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: Clones and Clonal Hematopoiesis in Shwachan-Diamond Syndrome (SDS). This spotlight video on clones in SDS introduces the concept of clonal hematopoiesis, as relevant to Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: What are Ribosomes and what is their Role in Shwachan-Diamond Syndrome (SDS)? This spotlight video on Ribosomes and SDS explains what Ribosomes are and how they relate to Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: What are Humanized Mouse Models and why are they important for Shwachan-Diamond Syndrome (SDS) therapy development? This spotlight video on Humanized Mouse Models for SDS explains what mouse models are, what new models are needed, and insights into the SDS Alliance and The Jackson Laboratory collaboration to move Shwachman-Diamond Syndrome therapy development. Gene Therapy for SDS An Interactive Guide for Patients and Families Ask an Expert - Community Chat Online Monthly Webinar Series Posted recordings Ask an Expert: Dr. Valentino Bezzerri on Ataluren and Progress in Shwachan-Diamond Syndrome (SDS) This video on Ataluren and SDS explains how this nonsense suppressor drug works and the status of research as it relates to Shwachman-Diamond Syndrome. Ask an Expert: Dr. Lisa McReynolds on Clones, Germline and Somatic Mutations, and why they matter for Shwachan-Diamond Syndrome (SDS) This video on Clones and Somatic Mutations in SDS explains the concept of clonal hematopoiesis and why it is so important in Shwachman-Diamond Syndrome. Ask an Expert: Dr. Jean Donadieu on the New French National Protocol for Shwachan-Diamond Syndrome (SDS) This video on the new French national protocol for SDS explains what it is, how it came to be, and its benefits to the care of Shwachman-Diamond Syndrome patients. SDS Spotlight and Research Blogs The blogs to keep you in the loop about the latest developments 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 From around the web: Science & Medicine for Kids and Adults Insightful resources about the basics, relevant to SDS and research Also check out our Kids' Corner for additional resources for children! Genes and Inheritance Genetic Testing (Applications and Techniques) Cell and Gene Therapy and CRISPR The American Society of Gene & Cell Therapy has some fantastic resources to help patients understand what cell and gene therapy is. Check out their recourses (videos, graphics, etc) on the Gene Therapy 101 page. The Immune System Cell Biology and Ribosomes Blood, MDS, and Blood Cancer / Leukemia Bone Marrow / Haematopoetic Stem Cell Transplant Neutropenia (Impact) Neutrophils (Science) Pancreas and Digestion Therapy Development process

The goal of this patient-focused meeting is to provide the U.S. Food and Drug Administration (FDA), product developers, clinicians, and academic researchers an opportunity to hear perspectives from individuals with Shwachman-Diamond Syndrome (SDS) on the health effects and daily impacts of their SDS, treatment goals, and decision factors considered when seeking out or selecting a treatment. SDS PFDD Meeting EL-PFDD Meeting for Shwachman-Diamond Syndrome Live Stream Overview Participate! Agenda Speakers Reports Contact The raw recording is now available below. Click on the play button on the player (bottom left), not the big button in the middle. The program starts about 26 minutes in. The documentary film starts at about 3:27. A trimmed video will be shared soon. Patients/Caregivers: Please share your experiences by July 4th! PFDD Live Stream Hosted by: In Partnership with: With financial support from: This project is funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (EASO-42419) Participate during the live meeting on June 4th! The meeting and comment period are now closed. Thank you for your participation. The report is now available below. Live audience polling will be available during the meeting through any mobile device or computer with an internet connection. Easy instructions will be shared during the meeting, and linked here: https://pollev.com/curesds Live call-in via Zoom (voice only). Click here to join the Zoom . It's like a green room, where our screeners will ensure you are ready before we proceed. Meeting ID: 865 7720 8796 Passcode: 090873 Find your local number: https://us02web.zoom.us/u/koiJWmzwE Submit a comment via voice mail or text at +1 617-329-1838 . Please include your first name, and country, at a minimum. Also available for 30 days after the meeting. Submit a comment via email at patientvoice@sdsalliance.org . Please include your first name, and country, at a minimum. Also available for 30 days after the meeting. Complete the 20-minute Community Survey here. It focuses on the topics and questions of the SDS PFDD meeting. PFDD Overview What is an EL-PFDD (Externally-Led Patient-Focused Drug Development) meeting? In short, the SDS PFDD meeting is a very special and unique opportunity for patients and families to come together and share our voices and stories with the purpose of accelerating research and improving care. The meeting is part of our "100 Voices to #CureSDS" campaign and is bound to be the biggest and most impactful gathering of SDS patients and their families, along with the FDA, researchers, and industry. Don't miss it! The meeting is an Externally-led Patient-Focused Drug Development meeting, which is a special type of meeting developed by the FDA to give FDA and other key stakeholders, including medical product developers (pharma/biotech companies), health care providers (doctors), researchers, and the general public, a unique and important opportunity to hear directly from patients and their families/caregivers, and patient advocates about: the symptoms that matter most to them, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments. This input can inform FDA’s decisions and oversight both during drug development and the review of a marketing application. It can also help inform medical product developers about the unmet needs and priorities of people living with a particular disorder. The meeting will be live-streamed right here. After the meeting, the recording and a meeting summary in the form of a voice-of-the-patient report will be prepared and published on this page. In these meetings, the patient’s experience is brought to the forefront for the FDA and all other stakeholders to gain a deeper understanding of the condition, in this case, Shwachman-Diamond Syndrome. “Externally-led” refers to PFDD meetings that are led by organizations outside of the FDA. Learn more about PFDD in the video below. The meeting -- as part of the 100 Voices to #CureSDS campaign - is focused on capturing, amplifying, and sharing the Patient Voice to accelerate the development of therapies and cures for people with Shwachman Diamond Syndrome. In addition to the meeting, the campaign includes surveys, interviews, and a resulting publication called the Voice of the Patient Report, which will serve as a resource for regulators and researchers to incorporate the patient perspective into all aspects of research, therapy development, and regulatory decision making. SDS Community Chat to learn about the SDS PDFF meeting Thursday, 1/23 4 pm ET Registration is now closed. Watch the recording here. PFDD Participate How can SDS patients, families, and caregivers participate? The purpose of the EL-PFDD meeting is to amplify and share the "patient voice". Your voice . We want to hear from the entire patient community: patients and families dealing with more severe or milder manifestations of SDS, young and old, from diverse backgrounds and socioeconomic opportunities, before and after transplant, common or rare complications and experiences, and more. You can share your voice and have an impact on the future of SDS in many ways, including during, before, and after the meeting. Participation is voluntary. You can choose as many ways to participate as you like. The more the better. Participate LIVE online or in-person Register today. Free! In-person attendees : Register by May 26th. You will receive a FREE T-shirt . Travel support is available to qualifying families. Email us to inquire. Virtual attendees: Participate vi a polls, text, chat, voicemail, or live call-in. Details on top of this page and via email to registered participants. [Registration now closed] Fill out the community pre-meeting SURVEY To share your experience with SDS and to get familiar with the topics we will discuss at the meeting, fill out the anonymous PFDD survey . The survey will take 15-30 minutes to complete. The survey is IRB-approved. Results will be shared at the PFDD meeting and become part of the resulting Voice of the Patient report. Complete by May 28th. [Survey now closed] Join as a speaker/ panelist (in-person*) To apply to be considered a speaker/panelist (in person in Cincinnati, OH, on June 4th, 2025), fill out this form by 2/1/25 . Selected speakers/panelists will receive coaching and speaker training to develop and deliver their talks effectively. Travel, accommodation, and childcare costs will be covered by the organizer. [Applications now closed] Join the SDS Patient LENS Study To share your experience through an interview-based research study (SDS Patient LENS Study ), indicate your by filling our the informed consent form on the SDS-GPS platform. You can then schedule the interview at a time that is convenient for you. The study is IRB-approved and will start enrolling in late January or mid-February. The results of the study will be de-identified before analysis and publication and will inform PFDD planning, documentation, research prioritization, and other opportunities. Apply by 3/3! [Applications now closed] * COVID-19 policy for in-person attendance of the PFDD meeting and all meetings hosted by the SDS Alliance: SDS causes immune deficiency. As such, we take COVID-19 precautions especially seriously. We follow all local guidelines relevant to COVID-19 management. We welcome and encourage facemasks, including N95s, for the protection of yourself, your family, and the community. If you have any sign of a communicable disease, or have been in close contact with someone who has, please change your attendance to online instead of in-person. We are happy to accommodate your needs and enable full participation remotely. Please reach out to our team with any questions. PFDD Agenda View Agenda PFDD Reports Voice of the Patient Report for Shwachman-Diamond Syndrome Following the EL-PFDD Meeting on June 4th, 2025, we compiled a report in accordance with FDA's guidance. It is now published on Zenodo and available to download for free . If you have difficulties downloading from Zenodo, try this link . To request a printed copy, please email us at patientvoice@sdsalliance.org . This and other key publications about Shwachman-Diamond Syndrome are also available on the SDS Alliance Publications page. Access Report on Zenodo for Free More on our Publications page © 2026 Shwachman-Diamond Syndrome Alliance. This report is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0). It may be freely shared, cited, and adapted with appropriate attribution. We respectfully request that the SDS Alliance be acknowledged if any part of this report is used or adapted. Organizations intending to use this report for commercial purposes are warmly invited to contact us at patientvoice@SDSAlliance.org — we welcome the conversation. Please contact Eszter Hars, CEO, Shwachman-Diamond Syndrome Alliance, or other members of the SDS Alliance team at patientvoice@SDSAlliance.org for questions related to this report. PFDD Contact Contact Us For any questions, comments, and feedback, please contact the "SDS EL-PFDD" organizing team at patientvoice@sdsalliance.org or (+1) 617-329-1838. Our programs, including this EL-PFDD meeting, are made possible through support from our donors, partners, and sponsors like you. Thank you. If you or your company would like to support our work please reach out to our PFDD team at patientvoice@sdsalliance.org .

The SDS Patient LENS Study is an interview-based qualitative research study to understand and document SDS patients' and caregivers' lived experiences, needs, and stories. The results of this study will guide our focus on the patient voice and research priorities for years to come. SDS Patient LENS Study Enrollment is now complete. Results will be published soon. 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 program priorities for years to come. If you are interested in participating, please log in to your SDS-GPS account and apply by completing and submitting the SDS Patient LENS Study informed consent form. You can find it on your SDS-GPS dashboard and under open surveys. The SDS Patient LENS team will review all applications and select approximately 10-15 participants to be interviewed to ensure a wide and representative range of experiences with SDS will be captured. If you are selected, a member of the team will contact you to schedule your interview. Please note that submitting an application does not guarantee selection. Create an SDS-GPS account Login to your account Topics include Patient experience navigating the healthcare system Social and economic impact of an SDS diagnosis Research questions important to the SDS community Perspectives on current treatment options With the goal Describing the SDS diagnostic odyssey and patient journey Raising awareness of the SDS patient experience Contributing to future research and advocacy efforts Contributing to patient care and therapy development Video Presentation about the LENS study We presented an overview of the LENS study at the latest SDS POPS . Watch it here. Frequently Asked Questions Who is eligible? Individuals affected with SDS (18 years or older) and/or caregivers to those with SDS. How many people would you like to interview? 10-16 participants (or more – the more the better) How will interviews be performed? Interviews will be conducted using a phone or video call and involve guiding questions and space to share personal experiences. How will my interview data be used and protected? Common themes will be identified across interviews, and this data will be used to guide future research, care, and advocacy initiatives, including preparations for the SDS EL-PFDD meeting. All personal information and identifiers will be removed before analyzing and sharing data. Where can I access the informed consent form and written details? The IRB-approved study overview and consent form are available for pre-viewing by clicking here . To participate in the study, please sign the form on the SDS-GPS platform, when presented to you after completing the PFDD survey. It is the same information as linked above.

List and source of currently available research tools for Shwachman-Diamond Syndrome, and currently open projects. Research Tools & Data In an effort to accelerate preclinical research to drive projects toward translation to the clinic, we are actively supporting multiple projects to build the necessary research tools and infrastructure. See our strategy and roadmap here , and available options below. Mouse Models for SDS We have an active collaboration with The Jackson Laboratory to develop a humanized mouse model that includes the human SBDS gene, carrying the most common 258+2T>C "splice site" mutation. The original strategy resulted in embryonic lethality, and we are currently exploring new strategies and refinements. Results are expected in 2026. For questions, please contact us at connect@SDSAlliance. More information at our 2024 SDS POPS presentation , and Mouse model develop ment launched , meet the development team , phase 1 complete SDS Cell Biobank We have established a cell biobank at the Coriell Institute to collect and distribute patient-derived cell lines. Currently, they have LCLs, and we hope to add fibroblast this year as well. Please contact us at connect@SDSAlliance for details. More information at SDS Cell Biobank pilot complete , SDS Cell Biobank launched (soon) Fibroblast Patient-derived fibroblasts are available from our collaborators at the NIH. Please contact us at connect@SDSAlliance for details. iPSCs: We launched an iPSC development project in late 2022 to develop three iPSC cell lines in collaboration with the Coriell Institute and the UPenn Orphan Disease Center. The first line is expected to be available in Q3 2023. Additionally, we are working on developing isogenic pairs, which will become available in late 2023. Please contact us at connect@SDSAlliance for details. More information at iPSCs development launched Data Our survey platform, called SDS-GPS (Global Patient Survey and Collaboration Program) , launched in 2024. We are very interested in collaborations. We are also in close contact with many international clinical registries and would be happy to make introductions. Further. we successfully advocated for an ICD-10 code for SDS in the US, giving SDS visibility in the Medical Records data. Visit our ICD code resource page . Please reach out to us at connect@SDSAlliance.org .

Access no-cost genetic testing and other diagnostic tools, here. Get Tested for SDS Timely and precise diagnosis of SDS is critical for accessing life-saving treatments , optimal care, patient education, and community support. We have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are. Free testing Why is an early and precise diagnosis critical? Early diagnosis is essential to enable access to appropriate clinical care, access to research opportunities, and connections to community support. In particular, appropriate surveillance to enable early intervention that may reduce the risk of potentially life-threatening complications. Cancer An estimated 30% of patients develop MDS or AML by age 30. [1,2] Sepsis Most patients are neutropenic and require a fever protocol. [3,4] FTT Many patients fail to thrive (FTT) due to EPI, which is treatable by PERT. [3,4] Who should be tested? People with SDS symptoms (current or resolved) The symptoms of Shwachman-Diamond Syndrome are variable, both in terms of symptom onset, and severity [5,6 ]. It is easy to miss, with dangerous consequences. Current clinical diagnostic guidelines suggest that patients with a clinical suspicion of Shwachman-Diamond Syndrome should receive genetic testing if they have a history of two or more of the following symptoms: Exocrine pancreatic insufficiency (EPI) : Decreased pancreatic enzymes (serum trypsinogen or pancreatic isoamylase), decreased fecal elastase, malabsorption, or steatorrhea Hematologic abnormalities : Cytopenias including neutropenia , hypocellular bone marrow, bone marrow failure, or MDS/AML Skeletal dysplasia : Rib cage/thoracic abnormality, metaphyseal dysostosis, extremity abnormalities, scoliosis, or abnormal bone density A "history of " means that these symptoms may have happened in the past and resolved by the time testing is considered. Patients should still be tested for SDS even if symptoms have already resolved, or were very mild. Learn More Siblings of people with a genetic SDS diagnosis Symptoms of SDS can vary strongly in terms of severity and timing, even within the same family. Siblings of people with a genetic SDS diagnosis should receive genetic testing to confirm whether they may have SDS as well, despite mild or no symptoms. This will allow them to receive appropriate care and monitoring to help prevent or address complications. Testing should be quick and inexpensive, or even free, as it can be targeted toward the variant identified in the family. Many commercial testing companies offer family testing once the company diagnoses an individual. On the other hand, insurance coverage can be a challenge. Please contact us if you encounter difficulties, so we can connect you with experts to help. People who are diagnosed with MDS or AML, especially if under the age 50. All patients who present with myelodysplastic syndrome (MDS) or Acute Myeloid Leukemia (AML) - regardless of age, but especially those under the age of 50 - need to get tested for genetic germline heme malignancy disorders, including SDS and other leukemia predisposition and bone marrow failure disorders [7-10] . This is critical for enabling the care team to select the best course of treatment, as SDS patients will require specialized protocols and regimens. We cannot overstate the vital importance of this, as a matter of life and death. We also recognize that covering the cost of germline testing through health insurance may be challenging, especially for adults. If you have difficulties getting coverage, please contact us at connect@sdsalliance.org or an SDS expert in your area. How is SDS diagnosed? The most accurate and fastest way to diagnose SDS is through genetic testing. Over 90% of patients have mutations in a gene called SBDS. Both this gene and a few others that are associated with SDS can be tested through sequencing. Currently, most clinical genetic testing relies on Next Generation Sequencing (NGS) or Whole Exome Sequencing, and the analysis of the results typically focuses on certain groups of genetic disorders (often referred to as a target panel). Many - but not all - genetic testing companies cover the SBDS and the other genes of interest. Make sure that the test you receive covers the SBDS gene. All the resources we share below cover our genes of interest appropriately. (Note: NONE of the INVITAE panels or tests cover the SBDS gene. Do not rule out SDS based on testing through INVITE!). If the genetic testing results are inconclusive, a clinical diagnosis can be considered. This relies on experienced physicians to diagnose the relevant set of symptoms. We are happy to help you connect with a clinical expert in your area. Email us at connect@sdsalliance.org . A clinical diagnosis should not replace efforts toward a genetic diagnosis. View this video in Spanish What's in a Genetic Testing Report? 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. - Inconclusive results? If your results were inconclusive (i.e., one or more variants of uncertain significance were identified), we encourage you to periodically check in with the care team member who originally ordered genetic testing to see if there have been any changes in the classification of the variant(s) identified. As our scientific understanding of SDS expands, sometimes variants of uncertain significance (VUS) can be upgraded to positive (i.e., pathogenic or likely pathogenic) or downgraded to negative (i.e., benign or likely benign). Changes in the classification of these VUSs can have implications for care management, surveillance, and potentially genetic testing for other family members. Further genetic work-up for individuals with a clinical concern for SDS may be helpful for those with negative genetic testing – approximately 10% of individuals with a clinical concern for SDS do not have a known genetic cause, suggesting that pathogenic variant(s) may be in other genes not yet identified. For those with previous negative or inconclusive genetic testing, there are other more thorough types of genetic testing, such as whole exome sequencing (WES) or whole genome sequencing (WGS), that look for errors in the entire instruction manual, meaning all of the genes in your cells (over 20,000!) are analyzed. These kinds of genetic testing can be costly and time-consuming but may provide an answer for some families as we learn more about the genetic cause(s) of SDS. If only one pathogenic variant was identified in an autosomal recessive SDS gene (e.g., SBDS, EFL1, or DNAJC21), OR one or more variants of uncertain significance were identified, OR genetic testing results were negative, you may be eligible to participate in one or more of these research genetic testing opportunities. It is important to note that participating in research-based genetic testing may take longer than clinical genetic testing and that not all individuals who participate will have a result identified. If one or more variants are identified in the research setting, these findings may need to be confirmed with clinical genetic testing before they can be used to help guide medical management. Should I get genetic testing even if I already have a clinical SDS diagnosis? Absolutely yes! As highlighted above, an early and accurate diagnosis is critical for your healthcare team to partner with you to find the best treatment options. New therapies in various stages of development (including clinical trials) are often designed to target patients with specific gene variants. Eligibility for many clinical trials requires that patients know what gene variants they have, which relies on appropriate genetic testing. Knowing your genetic variant can help explore family planning options, including IVF. A genetic counselor can help you learn about these options. The National Organization for Rare Disorders (NORD) has published new animated videos and flyers in English and Spanish about why rare disease patients should get genetic testing if they already have a diagnosis. View this video in Spanish Do you want to learn more about SDS genetics and testing strategies? Check out these video resources. Free/No-Cost Genetic Testing Options Option A: Work with your medical team The first choice for patients is always to work with their medical team to access clinical-grade testing and try to get it covered by their health system or health insurance. We understand that for many people, it is challenging to find a doctor who is able or willing to order genetic testing. If this applies to you, please reach out to us at genetics@sdsalliance.org . We will help you find a provider in your area (such as a provider in the NICER network in the US, or the SCNIR network in Europe), or a provider through telehealth (such as through Genome Medical in the US. See their flyer here). If cost is an obstacle, we can even help you cover some of the costs. Inquire at genetics@sdsalliance.org . Besides verifying that the testing is a clinical grade (for example, in the US, the lab is CLIA certified), please also make sure that the SBDS gene is included in the test. Some labs don't cover the SBDS gene, even if they claim that they test for SDS or a large panel of immune deficiencies, because SBDS has a similar non-functional gene nearby (a so-called pseudogene) and the test needs to be validated specifically for SBDS. Option B: Self-referral options We recognize that accessing genetic testing through healthcare providers is not always possible, fast, or affordable, and therefore may not be available to all families. That is why we assembled the resources below to help patients - and their providers - access clinical-grade genetic testing, free of charge, with easy access from home. We do not recommend “direct-to-consumer” type of testing you may see advertised online, even if they are affordable, because they are usually not clinical grade and your medical team will not be able to use the results to guide your care. Free testing (US) United States Probably Genetic For patients who have not had genetic testing before, we have partnered with Probably Genetic to provide free, whole exome sequencing (WES) based, clinical-grade genetic testing. Learn more . US residents (except NY) only. NICER Comprehensive Immune and Cytopenia (CIC) Panel Eligibility: Patients must be referred by a NICER Institutional Member in order to qualify for this sponsored testing. The target population is patients with hematologic and/or immunologic presentations, but without a definitive diagnosis, in which genetic testing will aid in diagnosis. Patients must also consent to the NICER patient registry to be eligible for testing, in which de-identified clinical and laboratory data will be stored for future research in the NICER community. Patient registry and sponsored testing programs will be regulated through a central Institutional Review Board (IRB) at the University of Michigan. Rare Genomes Project Currently on hold due to budget cuts A free and remote research program using genomic sequencing (WGS) to look for the genetic cause of rare diseases, such as SDS. Eligible families will be asked to provide a blood sample and medical information. If a result is found, they will work with your doctor to confirm the result. Learn more . US residents only. Project FIND-OUT A research project to help parents get answers about potential genetic causes of their child’s symptoms, only open to infants in the United States between the ages of 3-12 months. Project FIND-OUT provides free genetic counseling and testing to eligible individuals who have 2 or more of the below symptoms: Feeding issues Issues with movement NICU admission Developmental delays Other (congenital malformations, atypical growth or specialist referral) Unprovoked seizures Tone US residents only, infants age 3-12 months only. Undiagnosed Disease Network (UDN) The UDN is a research study that is funded by the National Institutes of Health. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. Through this study, the UDN hopes to both help individual patients and families living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works. The Clinical Sites, where UDN participants are evaluated, are located in 14 cities across the United States as outlined on their website . In addition to answering several questions regarding demographics, medical history, and prior evaluations, the application to the UDN also requires a study recommendation letter from a health care provider (for example, specialist, primary care physician, nurse practitioner, or genetic counselor). If accepted to the UDN, participating providers will determine which further evaluations (including genetic testing options) may be required to help determine a diagnosis Europe, Australia, and other Countries/Regions Check out the registries below and contact them for assistance. The SCNIR-Europe branch, based in and listed under Germany, may be able to assist with testing for patients worldwide. The Italian registry has also been very accommodating to international patients from across Europe. We are very grateful for these wonderful programs for helping SDS patients in need. Click on the image below to navigate to the relevant resource page. References Reilly CR, Shimamura A. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances. Blood. 2023;141(13):1513-1523. doi:10.1182/blood.2022017739 Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103(1):30-39. doi:10.3324/haematol.2017.178111 Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome. Ann N Y Acad Sci. 2011;1242(1):40-55. doi:10.1111/j.1749-6632.2011.06349.x Nelson A, Myers K. Shwachman-Diamond Syndrome Synonym: Shwachman-Bodian-Diamond Syndrome Summary Clinical characteristics. https://www.ncbi.nlm.nih.gov/books/NBK1756/ Myers KC, Bolyard AA, Otto B, et al. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr. 2014;164(4):866-870. doi:10.1016/j.jpeds.2013.11.039 Thompson AS, Giri N, Gianferante DM, et al. Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features. Pediatr Res. 2022;92(6):1671-1680. doi:10.1038/S41390-022-02009-8 Lucy A. Godley et al., Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications. Am Soc Clin Oncol Educ Book 44, e432218(2024). DOI:10.1200/EDBK_432218 Lindsley RC, et al.,. Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation. N Engl J Med. 2017 Feb 9;376(6):536-547. doi: 10.1056/NEJMoa1611604. Feurstein, Simone et al. “Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.” Blood vol. 140,24 (2022): 2533-2548. doi:10.1182/blood.2022015790 Feurstein, Simone et al. “Germline variants drive myelodysplastic syndrome in young adults.” Leukemia vol. 35,8 (2021): 2439-2444. doi:10.1038/s41375-021-01137-0

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

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 .

Calling all adult SDS patients - anywhere in the world - to join us in an effort to facilitate peer-to-peer support; capture your voices, experiences, and needs; to improve medical care and access for adults, and to inform therapy development priorities. Shwachman-Diamond Syndrome Adult SDS Patient Council Calling all adult SDS patients - anywhere in the world - to join us to capture your voices, experiences, and needs; to improve medical care and access for adults, and to inform therapy development priorities. If you would like to join or have any questions or suggestions, please message us on Facebook or email us at connect@SDSAlliance.org . The council meets once per quarter, virtually via Google Meet or zoom. The first meeting took place in November 2020, and was a huge success. The current schedule is set for the second Saturday of the month March, June, September, and December, at 4 PM EST (New York Time) so that participants from all over the world can join. Please reach out if this time doesn't work for you. Please email us at adults@sdsalliance.org if you would like to join and we will send you the meeting link. We are excited to announce that Jacquelyn Kaufmann Poarch is now chairing the Adult SDS Patient Council. Please read about her background on our Meet-The-Team page . Additional Resources Mental Health Resources A great webinar from our friends at the AA-MDS International Foundation Peer connections Our Odyssey – An organization for people ages 18-35 impacted by chronic and rare conditions Peer-to-peer connection with the wider SDS community , not just adults with SDS Ideas for coping with learning, cognitive, and behavioral challenges https://www.understood.org - A great resource to learn how to deal with executive functioning challenges and other types of learning differences. Useful for both caretakers, teachers, and people experiencing the challenges themselves. Here is an example of search results for executive functioning. Medication copay assistance programs (US) CREON On Course support program - offers copay assistance and sometimes provides ADEK vitamins and nutritional supplements. [US only, as far as we can tell] Zenpep Z-Save Patient support program - - offers copay assistance and sometimes provides ADEK vitamins and nutritional supplements. [US only, as far as we can tell] Assistance accessing healthcare services (US) Got Transition – Helps to improve the transition from pediatric to adult health care through the use of new and innovative strategies for health professionals and youth and families. Healthcare advocacy resources for patients : These are some organizations that specialize in helping patients navigate the US healthcare system to help them get access to insurance, specialists, medications, services, etc. We have no first-hand experience with these organizations, so please use sound judgment as you engage with them. Care packages (currently ON HOLD) In May 2021, the Adult SDS Patient Council launched a new program partnering with Potsie Packs to support adult SDS community members who are going through a tough time in their SDS journey! Potsie Packs specializes in care packages for young adults: Oftentimes, teens and young adults fighting chronic illnesses and cancer find themselves caught between being both too young and too old to receive care packages catered to them. Potsie Packs aims to provide unique gifts and helpful resources to this age group through our care package program. However, most importantly, we aim to make people smile as they go through some of the toughest days of their lives. To request a Potsie Pack, please fill out this form and mention that it is through the SDS Alliance for a Shwachman-Diamond Patient.

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)

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