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The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, with the goal of * expanding the understanding of SDS * improving the lives of people with SDS, and * accelerating the development of new therapies and cures for SDS. Join SDS-GPS now Destination Cure. Driven by You. Join by Creating an Account Existing Account Login SDS-GPS and More Publications SDS-GPS is an Opportunity for You to Accelerate Therapy Development and a Cure for SDS The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to expand the understanding of SDS improve the lives of people with SDS, and accelerate the development of new therapies and cures for SDS. By joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial design and recruitment success. Joining is Quick & Easy All you need: 30-60 minutes of your time (you can take breaks) The patient's genetics report (if available). Learn more . A computer or mobile device with internet Optional: Schedule a call with our team if you would like help with getting started. Click here for our calendar booking link and select how long you would like to meet with us on Zoom. Join Us to Make an Impact Be the first to know about clinical trials and research opportunities relevant to you, based on your profile, mutation, symptoms, and demographics Drive research by expanding the knowledge about SDS and informing clinical trials' needs and designs Become an integral part of a global community that cares Your experience - whether it falls in the mild or severe end of the spectrum - matters. Your voice counts. We strive to make this opportunity available to all patients/families by making it accessible from anywhere, anytime. We are excited to share that the SDS-GPS platform and surveys are now available in 5 languages: English, Spanish, French, Italian, and German. We are looking to add more languages as funding allows. English Espanol (Spanish) Francais (French) Italiano (Italian) Deutsch (German) What aspects of my story can I share through SDS-GPS? Surveys on the SDS-GPS Program Platform are designed to be quick and easy, without the need to have to look up any details from medical records. You can save your progress and come back anytime. Survey topics include: Socio-demographics Medical history and diagnostics Treatment and disease progression Management of and access to care Quality of life. Learn more . Additional aspects of life with SDS - your human story - are extremely valuable as well, and we are looking to help you share those through other SDS Alliance programs. For example, check out our resource page on patient stories. How can my story help drive therapies and cures? Your story helps paint a more complete picture of what SDS is and how it impacts the people living with it. Your participation helps build a strong, engaged community, which is critical to drive progress. Without patients and their families, research cannot advance. We (the SDS-GPS team at the SDS Alliance) use your de-identified aggregate survey responses and other data you share to develop a deeper understanding of the unmet needs of the community. We use the insights to Prioritize research, educational resources, and community programming Promote data and knowledge sharing via collaborations, publications, conference presentations, and other communication channels Provide you with information about relevant research opportunities (such as the SDS Registry and other natural history studies), clinical trials, educational resources, and community support connections. How does SDS-GPS work? Sign up for a free SDS-GPS account (hosted by Matrix) in 4 easy steps and tell us a little bit about yourself or your loved one. Enrolling and participating takes little time, and you can come back later to update your information. Answer surveys from the comfort of your home at any time that works for you. Upload your genetics report if available, or at a later. Learn more . Privacy and security are protected to the highest standard. Learn more . Move research forward without any clinic visits or virtual appointments. With your consent, we publish and share de-identified data (your survey responses) with approved researchers to support research to benefit the SDS community. The information you provide through easy surveys is structured and coded behind the scenes, to be usable for high-quality, impactful research. Keep track of your or your loved one’s medical appointments, medications, and symptoms via your SDS-GPS account, and have all the information at your fingertips whenever and wherever you need it. You can share any information you like with your care team. You retain full control over access. Patients, Parents, Caregivers: Join in 4 simple steps! Create an Account Download Quick Start Guide Step 1: Create an account Request access to create an SDS-GPS account on the Matrix platform. You will be asked to confirm your email address and create a secure password. Frequently Asked Questions: How is my information used and protected? Who will be able to view my information? In addition to the SDS-GPS team as part of the SDS Alliance, the following are groups with whom your Program team may share your de-identified data and samples to support research and therapy development. All these entities will have oversight committees (such as an IRB) that will supervise the ethical use of the data and samples and protect the participants. • Health authorities throughout the world (e.g., U.S. Food and Drug Administration (FDA), European Medicines Agency (EMA), and other governing bodies that review clinical trials). • Institutional Review Boards (IRB) that oversee and review the ethics of the research. • The program sponsor (SDS Alliance) and those working for or with the sponsor, which may include affiliates of the sponsor located in your country or other countries. • Other groups: Examples of which include academic, government, or industry researchers; public-private partnerships; and/or external research collaborations. • Programs and platforms to facilitate the sharing of de-identified data and combining multiple datasets, such as the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP), European Rare Disease Registry Infrastructure (ERDRI), or Terra by the Broad Institute. Is my information secure? The SDS-GPS Program data will be stored on secure servers located in the United States of America (U.S.). Data entry may be performed anywhere in the world via web interface. For persons living outside the U.S. who choose to share information about themselves, the same protections for privacy and confidentiality are offered as in the U.S. Privacy laws in other countries, such as General Data Protection Regulation (GDPR), may have different protections than those provided in the U.S. Participants’ data may be transferred to the U.S. (e.g. to servers physically located in the U.S.). • Participants’ privacy and confidentiality will be safeguarded by using modern database management techniques and informed consent. As part of consent, participants will have the ability to state whether future re-contact is acceptable. SDS-GPS Program staff may contact participants to clarify data entry. • Confidentiality will be protected by limiting access to data and keeping Protected Health Information (PHI) password protected on a secure server. "Protected Health Information" or PHI is a term used for health-related information that can specifically identify a patient, for example, their name, date-of-birth, and place of birth, etc. Privacy and confidentiality risks will be minimized by the following means: • Access to PHI in the database will be limited to as few SDS-GPS Program team members as possible. • All team members with access to PHI will have to go through CITI or similar training on how to protect PHI. • Participants will be assigned a unique patient identification number or will be asked to provide a research ID they may have received from a third party (such as the Clinical Research ID (CRID)). Any data that is shared will be labeled with this unique identifier instead of participants’ PHI, such as their name, picture or any other identifying information. • PHI and other data are kept safe using the highest encryption standard available and protected via password-protected and encryption security measures. Do I have to participate in this program? If I choose to participate, can I change my mind and withdraw later? Participation in the SDS-GPS Program is voluntary. Participants are free to withdraw at any time, for any reason. To withdraw, they will need to contact the SDS-GPS Program team by email at GPS@SDSAlliance.org. Refusing to participate will involve no penalty or loss of benefits to which one is otherwise entitled. Participants have the right to ask that we delete their personal information. If we still have their personal identifiers (PHI), we will delete them to the extent possible and unlink their data from any information that could identify them. De-identified information no longer connected to PHI cannot be identified and won’t be deleted. De-identified information that has already been shared with researchers or groups cannot be retrieved or removed. Who will information from the Program be shared with, and how? Identified Data: Identified data, including PHI, is protected and won’t be shared outside the SDS-GPS Program. "Protected Health Information" or PHI is a term used for health-related information that can specifically identify a patient, for example, their name, date-of-birth, and place of birth, etc. De-identified data: For de-identified data (i.e. data that is no longer linked to a specific person), there are several types of data access and dissemination options. • Aggregate Data. Such information may include the number of participants, the prevalence of individual common diagnoses, demographic information, and percent willingness to be re-contacted for future research. • De-identified, Patient-level Data. De-identified data is available for researchers to use in statistical analysis for pre-clinical explorations, publications, presentations, grant preparations, and more. Researchers can apply for access via an application form. All applications will be reviewed by the Data Access Committee. • Support in identifying and recruiting patients for clinical trials and other research studies. Requests will be reviewed by the Data Access Committee. IRB approved recruitment material will be distributed by the SDS-GPS Program team. No patient list will be shared with third parties. • Investigators wanting to use the SDS-GPS Program data need to apply to the Data Access Committee. The Committee is composed of the Program Principal Investigator, patient representative, and members with scientific, medical, legal and/or ethical expertise. It ensures that the request for data use aligns with the purposes of the Program and its policy. The application requires providing the following information through an online form or by email to the Program team at GPS@SDSAlliance.org: • Principal Investigator (Name, contact information, and CV) • Aims and hypotheses of the proposed research • Where and how the research will be performed • How the research will be funded • How the results will be published and/or shared, and • What type of data access is requested A data transfer agreement will be distributed ahead of the data, specifying the agreed-upon scope of research to be performed and specifying that no attempt may be made to identify the SDS-GPS Program participants. Can my doctor or medical professionals view my information? Participants have the option to access and share their own data in the SDS-GPS Program Platform. Physician access to the platform may be available in the future, upon written permission of the participant. What is the SDS-GPS Program? What is the purpose of the SDS-GPS Program? The SDS-GPS Program stands for Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program. It was created in 2023 by the Shwachman-Diamond Syndrome Alliance, Inc. - a patient-centric research-focused nonprofit research organization based in the US, serving the global SDS community - in order to enable and accelerate the development of therapies and cures for Shwachman-Diamond Syndrome (SDS) and related disorders and to optimize patient care. How will SDS-GPS contribute to research? The purpose of the SDS-GPS Program is to enable and accelerate therapy development and disease understanding by • Collecting standardized data through validated surveys, medical records, and other means, in a consistent way and from as many individuals as possible. This is essential for (ultra-)rare diseases like SDS to enable progress. The Program is aimed at enabling the development of patient-reported outcome measures (PROs) and real-world evidence (RWE) through the collection and analysis of real-world data (RWD). • Incorporating the patient voice into all aspects of the research and therapy development continuum. One important tool to capture the patients’ voice and to support the development of patient-centric priorities is the use of surveys to assess the needs of the SDS and related disorder communities. • Making data available to any researcher who wants to better understand SDS, related disorders, community needs, and work toward improved care and novel therapies. We want as many scientists as possible around the world working on SDS and related disorders toward therapies and cures. • Developing a database of people who may be interested in participating in future studies, including clinical trials, with all the necessary information about them already in place. We encourage all patients to consider participating in any registry or study available to them. • Driving collaborations between all stakeholders, including patients, registries, researchers, clinicians, and regulators. We are leading the way by building collaboration opportunities and data sharing frameworks into all our programs. Who can join SDS-GPS? The Program is open to patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents/caregivers. • Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis. The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1. • Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future). • Patients with other heritable hematological malignancy disorders (such as RUNX1-FPD, Fanconi Anemia) and/or congenital neutropenias (such as ELANE neutropenia) are also eligible for inclusion. • Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased. What are the benefits of joining SDS-GPS? There may be no direct benefit to the participants associated with articipation in the SDS-GPS Program. However, by giving approval for your de-identified data and samples to be shared for research purposes, your valuable contributions have the best chance to be used as effectively as possible for research not only today but also in the future as new research questions and technologies emerge. Furthermore, by providing your contact information and agreeing to be re-contacted by the SDS-GPS program, you will be able to receive the most relevant information about your (or the participant’s) disorder, support services and connections, educational resources, information about relevant clinical trials, and access tools to store and manage their own health records and information. Are there any risks to participating in the Program? Could it cause me any harm? Participation in the SDS-GPS Program presents minimal risks to its participants. The risks are related to privacy. There are no risks of physical harm associated with participation in the SDS-GPS Program. Participation in the SDS-GPS Program does involve the potential risks of a breach of confidentiality of medical information and the associated privacy of the participants. Is the SDS-GPS Program a clinical trial, a registry, or both? According to the NIH, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure and that serves predetermined scientific, clinical, or policy purpose(s). Studies derived from well-designed and well-performed patient registries can provide a real-world view of clinical practice, patient outcomes, safety, and clinical, comparative, and cost-effectiveness, and can serve a number of evidence-development and decision-making purposes. In this sense, the SDS-GPS Program could be considered a "registry," but it is so much more than that. It gives patients a voice and builds community and collaborations between stakeholder groups (patient, caregiver, researcher, and clinician communities). The main difference between registry studies and clinical studies or clinical trials is that registry studies are observational (passively observing the natural history or normal progression of the disease, untreated or using current standards of care), whereas clinical studies are investigational (investigators are instructed to treat the condition in a certain way, and then outcomes are measured). The SDS-GPS Program is applying to be registered on ClinicalTrails.gov. What is a registry? And is the SDS-GPS Program a registry? The SDS-GPS Program could be considered a patient-powered registry, but it is much more than that. In addition to collecting patient data, it is focused on sharing the data, building collaboration, and empowering patients by providing them access to their data and modern tools to manage their data. “Patient registries have been defined as “an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves a predetermined scientific, clinical, or policy purpose(s).” In brief, a patient registry is a collection—for one or more purposes—of standardized information about a group of patients who share a condition or experience.” In what languages can I participate? The SDS-GPS Program platform (hosted by Matrix) is available in several languages, including English, Spanish, German, Italian, and French. Most surveys administered on the platform are also available in several languages. We are striving to add more languages based on the needs of the community and capacity. Why is patient-reported data so important? Patient-reported data is crucial for drug development and FDA (U.S. Food and Drug Administration) approval for several reasons. Including patient perspectives and experiences in the evaluation process enhances the overall understanding of a drug's effectiveness and safety. • Patient-Centric Focus: Incorporating patient-reported outcomes (PROs) ensures that drug development is centered around patients' experiences and the impact of the condition on their daily lives. This patient-centric focus aligns with the goal of developing treatments that genuinely address patients' needs and improve their quality of life. • Measuring Treatment Benefits: Patient-reported data provides direct insight into the benefits of a treatment from the patient's perspective. This information is particularly valuable in assessing the drug's impact on symptoms, functioning, and overall well-being, which may not be fully captured by traditional clinical measures alone. • Endpoint Selection: Patient-reported outcomes can help inform the selection of meaningful and relevant endpoints for clinical trials. By including endpoints that matter to patients, researchers can design studies that better reflect the real-world impact of a drug, making the results more applicable to patients' experiences. • Clinical Trial Design and Recruitment: Patient-reported data is essential in the design of clinical trials, helping researchers determine the appropriate study population, design patient-friendly protocols, and enhance recruitment strategies. This contributes to the overall success and efficiency of clinical trials. • Regulatory Requirements: Regulatory agencies, such as the FDA, increasingly recognize the importance of patient-reported data in evaluating drug safety and efficacy. In many cases, the FDA requires the inclusion of PROs in clinical trial protocols, and positive patient-reported outcomes can support a drug's approval by demonstrating its meaningful impact on patients' lives. • Labeling and Communication: Patient-reported data can influence the content of drug labels, ensuring that important information about the drug's benefits and risks is communicated clearly to healthcare providers and patients. This transparency aids in informed decision-making and appropriate use of the medication. • Post-Marketing Surveillance: Patient-reported data continues to be valuable after a drug is on the market. Monitoring patient experiences and outcomes post-approval helps identify any previously unrecognized side effects, assess long-term benefits, and guide further recommendations for use. • Health Economics and Market Access: Patient-reported outcomes contribute to health economic assessments and market access strategies. Demonstrating the positive impact of a drug on patients' lives can influence reimbursement decisions and market access, making the drug more widely available to those who need it. • In summary, patient-reported data is integral to the drug development process, providing a comprehensive understanding of a drug's benefits and risks. Its inclusion enhances the credibility of clinical trials, regulatory submissions, and post-marketing evaluations, ultimately contributing to improved healthcare decision-making and better outcomes for patients. Who is sponsoring (paying for) the SDS-GPS Program? Are there any third parties involved? The initial design and implementation of the Program, as well as annual maintenance, will be funded by the Shwachman-Diamond Syndrome Alliance (“SDS Alliance”) - the Sponsor. In order to maximize the impact of the participant’s data and efforts, we invite and encourage researchers from other organizations and companies to apply for and access certain sets of data. The SDS Alliance may get paid by some of these partners and will use the proceeds to sustain and grow the SDS-GPS Program and other programs to benefit the SDS community. How can I support the SDS-GPS Program? Your participation (enrolling in SDS-GPS and filling out surveys) is the most important way to support this program. Additionally, financial support for the SDS Alliance is always impactful, as all its programs are focused on accelerating therapy development and cures, and improving patient care. Turning hope into action, together. How Can I Participate in the Program? What will I need to do in order to participate? Participants will need to follow the following steps to participate in the Program: • Setting up an account on the SDS-GPS Program platform, which can be done by a caregiver or patient. • Adding participants (which can be patients, parents, caregivers, or close relatives) • Providing informed consent (IRB approved) for each participant (online on the Program platform) including options to agree to be re-contacted. • Adding contact and demographic information about each participant(s) • Uploading the genetics report of the participant(s), if available. • Answering surveys (about the participant’s physical and mental health, quality of life measures, the burden of disease, community needs assessment, and other aspects of SDS and related disorders) that are available in the participant’s account on the Program platform. Most of the surveys need to be answered on an annual basis or more, in order to track changes to their experience over time. The Program platform or team may send reminders to update surveys and other information. Participants may also have the opportunity to contribute additional types of data, such as • connecting their electronic health records (EHR), answering interview questions, allowing their healthcare provider to add health information on their behalf, uploading additional test results and lab measurements, connecting metrics from devices, and new technologies yet to be developed. • data associated with samples for biobanking and research. Sample collection and banking are governed under separate protocols and IRB. What is Informed Consent? Informed Consent is a process in which patients and research participants are given important information, including possible risks and benefits, about a medical procedure or treatment, genetic testing, a clinical trial, or studies, registries, and data collection programs. This is to help them decide if they want to participate. Patients are also given any new information that might affect their decision to continue. Who should provide informed consent on behalf of the participant? Any individual considered a legal adult (also known as someone over the age of majority) who is diagnosed with Shwachman-Diamond Syndrome (SDS) or related disorders who is able to understand this consent form and wants to participate in this program should consent on their own behalf. • A parent or guardian may enroll a child who is under the age of majority (in many places, under the age 18 years). Please see ascent instructions in the consent form. The SDS-GPS program team will contact each participant who was enrolled as a child, upon reaching the age of majority, explain the purpose of the program, and seek their consent to continue their participation. In other words, individuals for whom their parents provided consent will be asked to provide their own consent when they reach the age of majority. • A Legally Authorized Representative (LAR) may enroll an adult over the age of majority who is unable to consent. • Family members or caregivers of a patient who has passed away can also participate and provide information about the deceased patient. No formal Informed Consent is necessary, but the information presented here may still be helpful for understanding the Program. What is a genetic report? Why are you asking for it? Genetic confirmation of your diagnosis is very important for both optimizing your own healthcare and also for research. Without it, researchers cannot determine whether a specific gene or mutation is responsible for the symptoms you experience. Please upload it to the SDS-GPS Program platform when prompted. As with all personal information, it will be protected with utmost care. If you have never had genetic testing or are having a hard time accessing testing, please reach out to us at genetics@SDSAlliance.org. We may be able to help you access free genetic testing options or point you to relevant resources or experts. A genetics report, also known as a genetic test report or genetic analysis report, is a document that provides information about an individual's genetic makeup based on the results of genetic testing. Genetic testing involves the analysis of an individual's DNA to identify variations or mutations in specific genes associated with certain traits, conditions, or susceptibilities. Genetic reports typically include: • Personal Information: Name, date of birth, and other relevant demographic details of the individual undergoing genetic testing. • Test Information: Details about the specific genetic test or tests conducted, including the methodologies used and the genes or regions of the genome analyzed. • Genetic Variants: Identification of specific genetic variants found during the testing process. These variants may include single nucleotide polymorphisms (SNPs), insertions, deletions, or other genetic alterations. • Interpretation of Results: Explanation of the significance of the identified genetic variants. This section may classify variants as normal, pathogenic (associated with a disease or condition), or of uncertain significance. • Genetic Conditions or Traits: Information about any genetic conditions, predispositions, or traits associated with the identified variants. This may include details about the risk of developing certain diseases, carrier status for genetic disorders, or information about drug response and metabolism. • Risk Assessment: If applicable, an assessment of the individual's risk for developing specific diseases or conditions based on the identified genetic variants. • Clinical Implications: Recommendations or implications for medical management, surveillance, or preventive measures based on the genetic findings. • Inheritance Patterns: Information on how the identified genetic variants may be inherited and whether they follow an autosomal dominant, autosomal recessive, or other inheritance pattern. • Limitations of the Test: Discussion of the limitations of the genetic test, including potential false-positive or false-negative results, and the scope of conditions covered by the test. • Genetic Counseling Recommendations: Guidance on the importance of genetic counseling and recommendations for further discussions with a genetics professional to fully understand the implications of the genetic test results. It's crucial to note that genetic testing should be carried out under the supervision of healthcare professionals, and the interpretation of results often requires expertise in genetics. Genetic reports are valuable tools that can inform medical decision-making, risk assessment, and personalized healthcare planning based on an individual's genetic profile. What if I don’t have a genetics report? If you have received genetic testing for SDS and/or related disorders but don’t have access to a copy, please check with your healthcare provider or testing company on how to access it. We may be able to help with the process of obtaining a copy on your behalf with specific paperwork. Please contact us at genetics@SDSAlliance.org for assistance. If you don’t have access to genetic testing, we may be able to assist! We can connect you to experienced doctors and no-cost testing options almost anywhere in the world. We can also provide information on testing strategies and interpretation to your physician or connect them with local experts. Please contact us at GPS@SDSAlliance.org for assistance. Can I learn more about my genetics when I upload my report? Before you upload your genetics report, you will have the option to indicate whether you would like us to inform you if new information becomes available about the genes and variants described in your report. As we learn more about genetic changes, our understanding of their relationship to health might change. For example, the classification of Variants of Unknown Significance (VUS) may change over time, or new genes may be discovered that could explain symptoms or disorders. Some updates may impact your medical care, while others may not. Such updates are rare, so most participants will not receive updates. It is not possible for us to identify all updates related to participants’ genetic test results. Answering “Yes” means that you may be contacted by our team if we learn about potential updates to your/the participant’s genetic test results. Our email would direct you back to your doctor or a healthcare provider in your area to discuss possible updates in more detail, as our team is not able to provide medical care. Please contact us at genetics@SDSAlliance.org for assistance. Will I be able to view or change my responses after completing a survey? Yes! The system will keep track of changes in order to comply with data collection standards. Additionally, most of the surveys need to be answered on an annual basis or more, in order to track changes to participants’ experience over time. The Program platform or team may send reminders to update surveys and other information. Is it really FREE? Is there any cost associated with participation? The SDS-GPS Program platform (application) is FREE to use for participants, as the cost is covered by the SDS Alliance (sponsor). However, the application utilizes the participant’s cell phone, tablet, or computer, and will utilize their data/internet connection. The application will send notifications and reminders. There may be fees for text messages and data usage as per your plan with your cell phone or internet provider. To facilitate participation by underserved communities, the SDS Alliance may occasionally offer financial assistance to overcome such barriers. Do you provide any incentive for participation? Participants will not be paid for their data. Occasionally, we may offer participants a gift card or other small compensation for their time and effort involved in participation, such as completing certain surveys. If compensation is available, we will tell them the details prior to the start of the activity. The use of data may result in commercial profit, such as a product, material, or process. Participants will not share in any commercial value or profit derived from the use of their data nor will they have special access to any products or therapies created. Will survey results be shared back with me? Yes. We will share results in many different ways. • You can always access your own surveys and answers, and print or share as you wish. • Participants will also be able to see how their survey answers compare to other participants for certain questions, once sufficient participants have filled out the surveys. This is a built-in feature of the Program platform. • To promote the use of the SDS-GPS Program and data, aggregate, de-identified data will be collated at least annually and made available to the public through various means, such as the SDA Alliance or Progam website, newsletter, email or mail, conferences, webinars, social media, or publications. Such information may include data in aggregate of a group of participants, instead of patient-level data, such as the number of participants, the prevalence of individual common diagnoses, demographic information, and level of engagement. How can the SDS-GPS platform help me manage my health information? How can the SDS-GPS platform help me manage my health information? Use it as a personal health monitoring tool Utilize tools and features that make managing daily care easier Share health information easily with others Symptoms and Activities Tracker Track symptoms and activities on the platform, including energy levels, pain, illnesses, medication or diet changes, doctor or therapy appointments, and more! Use an existing favorites list or create your own symptoms and activities list to track those that are meaningful and important to you Graphs can be created with multiple activities and symptoms to look for patterns and possible correlations Medications Tracker Log medications, dosages, and refill dates Text and email notifications for medication administration and refill reminders Important Document Storage and Organization Upload your documents for easy organization and access - medical records, IEP’s, evaluations, medication lists, physician contact lists, guardianship, etc. Documents can be shared as PDF files with healthcare providers, other caregivers, and anyone you'd like to have them Journal Keep notes and written narratives of important information such as changes in eating or sleep, unusual behaviors, parent-teacher interactions, or any other things you want to remember Keep a list of questions for the next doctor's appointment Resource Center Find important documents, forms, and information from the SDS Alliance and other peer-reviewed guidelines and resources to help with your Program participation or make day-to-day life and care easier Find announcements and details about clinical trial opportunities Sharing Center Download and share any information you've entered into Matrix (your own personal health data) with anyone you'd like, such as your healthcare providers, school nurses, care providers, etc... Message Center Two-way communication with the SDS Alliance related to the SDS-GPS Program A safe, secure, and private way to share information and questions

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.

Thank you for your interest in rallying support to #CureSDS! As a rare disease community, our strength lies in our personal connections. When you share your family’s journey, you aren’t just asking for a donation — you are putting a face to SDS, raising important awareness, and building a community of advocates. These are all stepping stones to achieve our goals, together. Fundraise Your Way to #CureSDS Thank you for your interest in rallying support for Shwachman-Diamond Syndrome Alliance and our shared mission to #CureSDS! As a rare disease community, our strength lies in our personal connections. When you share your family’s journey, you aren’t just asking for a donation — you are putting a face to SDS, raising important awareness, and building a community of advocates. These are all stepping stones to achieve our goals, together. We know that life with SDS is incredibly busy and at times extremely challenging. Your family's health and well-being always come first. There is absolutely no pressure. The beauty of community fundraising is that every single effort, no matter how big or small, adds up to a massive impact. It’s about doing what you can, when you can, to feel connected and proactive. Every dollar raised and every conversation sparked brings us closer to: Clinical Trials by 2030 — ultimately, giving SDS families more birthdays to celebrate. Click to open the Guide Ways You Can Help Whether you want to support from home or bring your local community together, we have options to fit every family's schedule, energy, and comfort level: ① The "No-Lift" Option: Become a Monthly Giving Ally If you don't have the time or energy to plan an event but want to actively drive progress, our Monthly Giving Allies program is the perfect fit. In rare diseases, participation is what matters most. Having a large number of families joining us sends a powerful message to biotech partners and researchers that our community is united and determined to advance treatments. Gifts can be as simple as $5 or $25 a month — whatever is comfortable for your budget. It is a safe, easy way to build sustainable funding for clinical trial readiness right from your home or phone. ② Make Introductions Do you know someone at a company — an employer, a local business, a foundation — who may want to support your family, our shared mission, and SDS research? You don't need to make the pitch yourself. A simple introduction can open doors and lead to a big impact. SDS Alliance has a full sponsorship program with partnership opportunities at every level. Email us at gifts@sdsalliance.org to make an introduction or request our sponsorship package, and we will take it from there. ④ Send a Holiday Appeal Turn your annual holiday card mailing into an easy way to raise funds and awareness. We can help you draft a short, personalized family message to include with your cards, or we can even print and mail a beautiful, custom appeal letter directly to your friends and family list on your behalf. Whatever works best for you. Holiday Appeal ⑤ Rock Our Cause (T-Shirt Fundraisers) T-shirts are a fantastic, visual way to raise awareness and funds simultaneously. We have a selection of fun and beautiful designs ready to go in our official Bonfire store. You can use these designs as-is to launch an apparel fundraiser, or our team can help you customize them with your team name or inspiring message! If you're feeling creative, you can even design your own custom apparel to benefit the cause. ③ Pledge Your Birthday or Special Occasion Make your next milestone extra meaningful. Instead of traditional gifts, you can invite friends and family to donate to the SDS Alliance for your birthday, anniversary, or wedding. We can help you set up a simple Facebook fundraiser or a customized GiveLively digital campaign to make sharing your page with loved ones a breeze. ⑥ Low-Lift Partnership Fundraisers Consider coordinating a simple partnership campaign. Programs like hosting a virtual Pampered Chef cooking party are incredibly low-lift. While these may be lower reward than a large-scale event, they are a steady, simple way to show your support and do something positive without overwhelming your schedule. ⑦ Join Our Annual Virtual Event: Step Up to #CureSDS Launch a team for Step Up to #CureSDS (www.sdsalliance.org/steps), our annual virtual step-counting and fitness challenge. It is a wonderful, low-pressure way to connect friends, family, neighbors, and coworkers from all over the world to walk, run, or move together in honor of your loved one. ⑧ Create Your Own Local Event From a neighborhood lemonade stand, backyard bake sale, or school dress-down day to a charity golf tournament, creating your own independent event is a wonderful way to bring your immediate community together. Real Stories, Real Impact I used to feel overwhelmed thinking I had to plan a massive gala to make a difference. But when we started small, with a customized t-shirt drive and joining the Step Up to #CureSDS challenge, I realized how much our friends and family wanted to support us. They just needed a simple way to do it. It didn’t take over our lives. It gave our family a profound sense of hope and control. — Rebecca, mom to Declan (age 9, living with SDS), NJ, USA Rebecca presented her family's experience at SDS POPS 2025 — our annual virtual SDS Patient and Advocacy Summit. The video below takes you right there, to her section. Tools We Provide to Make it Easy We want to take the administrative burden off your shoulders so you can focus entirely on your community. When you partner with us for an event, the SDS Alliance can provide: Personalized Digital Fundraising Pages We will help you set up your own customized fundraising page powered by GiveLively, making it simple and secure to collect online donations AND tell you story. You just add a photo of your SDS hero and a brief note, and you're ready to share! To get started, ① click on Start a Fundraiser on any of our GiveLively fundraising pages. ② Add a photo and your brief story, and ③ share your page with your network. See our guide, linked above, for more details. Custom Graphics, QR Codes, and Text-to-Donate We can generate custom flyers, letters, or digital cards complete with a dedicated QR code or a "Text-to-Donate" code, making it incredibly easy for people to give instantly from their mobile phones -- at your event or anytime, anywhere. We can even help set up a custom T-shirt campaign for your community! SDS Alliance-Branded Materials We can supply flyers, brochures, and literature to distribute at your event. We can even ship a pop-up banner to anchor your event. Promotional Support As staff time allows, we can help you craft letters, emails, press releases, and flyers to spread the word. Official Authorization We will provide an official letter of authorization to validate the authenticity of your event and its organizers to prospective sponsors or donors. Donor Transparency When you use your customized fundraising page on GiveLively, you will be able to see who has donated to you campaign and how close you are to your fundraising goal! This will help you thank your donors and community. How Your Contributions Make a Giant Impact We don’t just throw funds at a single, isolated project. Instead, we use a smart portfolio approach. We think of it as tending a garden of cures. When you fundraise or give to the SDS Alliance, your dollars act as the water and nutrients that fuel this entire ecosystem: Nourishing the Roots: Your support builds essential research tools and infrastructure—the underlying soil that all scientists need to move SDS research forward, effectively. Tending Multiple Sprouts: We fund multiple therapy paths at the same time. By helping different ideas grow simultaneously, we ensure that if one path hits an unexpected roadblock, other treatments are already growing right behind it. Sprouting New Projects: We constantly plant new research and infrastructure seeds, tracking down fresh collaborations and expand our global community of experts. In this garden, our patients and families are the Sun . Your energy, your personal stories, and your collective participation are what draw academic researchers, biotech partners, top advisors, and major funders to our ecosystem. Together, we are keeping these budding cures growing every day —to bring clinical trials to reality by 2030 and give our families more birthdays to celebrate. Friendly Guidelines & Limitations To protect your family and ensure our community's fundraising aligns smoothly with legal and organizational policies, all independent activities (known as "Third-Party Events") just need to follow a few standard guidelines: Clear Branding: Promotional materials must make it clear that the SDS Alliance is the beneficiary of the event, not the host. For example, please use names like "The Jane Doe Golf Tournament, benefiting SDSA " rather than "The SDS Alliance Golf Tournament". Logo Approvals: Any materials featuring the SDSA logo (including flyers, custom t-shirts, and posters) must be reviewed and approved by the SDS Alliance prior to printing or online distribution. Email us at connect@SDSAlliance.org Expenses and Tax Exemption: Event organizers are fully responsible for event planning, safety, and expenses. SDS Alliance cannot advance funds, reimburse expenses, or extend its tax-exempt status for event purchases. We highly recommend securing local event sponsors or charging a registration fee to cover your overhead costs. What We Cannot Provide: Please note that legally, SDS Alliance cannot provide insurance or liability coverage for independent events, mailing lists of our existing donors or vendors, official SDS Alliance stationery, tax receipts for donations not made directly to the SDS Alliance, celebrity booking (wish we could :)), or staff attendance. For all details, please check out our Gift Acceptance Policy, linked in the footer of this website. Ready to do something special? We are so incredibly grateful to have you in our community. If you want to chat about an event idea or best practices, customize a Bonfire T-shirt design, set up a GiveLively page, or become a Monthly Giving Ally, please reach out to us at gifts@sdsalliance.org . We are in this together! current fundraisers Current & Upcoming Fundraisers Past Fundraisers

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month’s SDS Spotlight, Eszter Hars, Ph.D. — molecular biologist, SDS Alliance CEO, and mother of a child with SDS — shares a brand new tool we developed for patients and families to learn about gene therapy for SDS, and how their voice can help move it forward. One step closer to Clinical Trials by 2030. In this episode of SDS Spotlight, I share a brand-new tool we developed for you — patients and families living with SDS — to help you learn about the types of gene therapy being considered. How you can help move gene therapy forward for SDS Gene therapy for SDS is getting closer to reality. Research has reached a stage where your perspectives — what you hope for, what you worry about, and what you need to know — can shape what gets developed and how. This is your invitation to be part of this work. What patients and families told us they want to know A few weeks ago, we ran a quick poll in our Family Network Facebook group. We asked: What would you most want to learn about gene therapy for SDS? Nearly 40% of you wanted to know when it will be available. Another 27% wanted to know who would qualify. There was less interest in how it works and what the risks are. The key questions from the patient and family community: When and for whom. These are hard questions to answer. We don't know yet. What we do know is that the timeline depends, in part, on how well prepared the community is when trials open. And that preparation starts now. Why gene editing? Why for SDS specifically? Let's look into what makes gene editing the right approach for SDS, and why it took until now to get here. If you have watched our genetics video, you already know that SDS is caused by a spelling mistake in the instruction book that tells your body how to build and run itself. One specific spelling mistake — called the splice-site mutation, or c.258+2T>C — is present in virtually all patients whose SDS is caused by changes in the SBDS gene. Because almost everyone shares this same change, researchers can focus their entire effort on correcting that one typo. That is unusual in rare diseases, and helps us tremendously in moving development forward. Are you new to the genetics of SDS? Our short video explains the basics: Not sure how SDS works at the genetic level? Start here. SDS Alliance genetics explainer video — understanding genes, mutations, and Shwachman-Diamond Syndrome But correcting a spelling mistake in a living cell, and enough of them, is not easy. Until recently, gene therapy approaches were not efficient or precise enough. Traditional gene therapy approaches added extra copies of a gene in multiple spots in the genome, which doesn't work for SDS either, because the body needs exactly the right amount of SBDS protein. Not too much, not too little. More recent CRISPR tools worked with more precision, but they cut both strands of DNA in ways that blood stem cells don't handle well. This is where the newer generation of gene editing tools comes in. Base editing and prime editing — developed by Dr. David Liu at the Broad Institute or MIT and Harvard — can find and fix a single letter in a three-billion-letter instruction manual without cutting both strands of DNA. They make smaller, more controlled changes that blood stem cells tolerate far better. And they correct the spelling mistake in its original location, which is essential for preserving the body's natural control over how much SBDS protein is made. Here is Dr. Liu explaining how these tools work, in his own words: Dr. David Liu, inventor of base and prime editing, explains how these gene editing tools work. These tools are now ready for patients. Clinical trials using these approaches are already underway for other blood disorders (not yet SDS), with early results promising and laying the groundwork for additional genetic disorders. For SDS specifically, researchers have shown these tools work in early lab studies. No clinical trials yet — but we are getting closer. We make learning about gene therapy for SDS easy for you Our brand-new interactive guide to gene therapy, specifically for SDS patients and families, is ready! Gene therapy is a complex topic. We get it. That is why we built an interactive guide specifically for SDS patients and families. No scientific background needed. The guide walks you through what gene therapy for SDS would actually look like, the three approaches being studied, who they are designed for, and what is still unknown. If you want to go deeper into the science, that option is there too, but it is completely optional. There are animations, visuals, and plain-language explanations at every step. You can go at your own pace, come back anytime, and share it with anyone in your life who wants to understand what is happening in SDS research. This is the conversation the SDS community deserves to have. Start here. What we still need to learn — and why your voice matters Here is what the science and lab research cannot tell us: What matters most to you. Researchers can design a therapy that works in a lab. They can show that it is safe in animal models. They can run a Phase 1 trial to establish safety in humans. But they cannot design a trial that works for our patients without knowing what they actually want and need. Do families want a preventive approach — something that could reduce future leukemia risk before the disease progresses — even if it means being among the first to try it? Or do they want to wait until their situation becomes more urgent? How do families think about chemotherapy as part of the process? What would it take for a family to say yes to an experimental therapy? What would make them say no? Researchers, therapy developers, and regulators (such as the FDA) need to hear from you. They cannot get this information from anywhere else but YOU. And the time to share your voice is now, before trials open, when the answers can still influence how trials are designed, who is included, and what outcomes are measured. That is exactly what we are building toward. What you can do right now This fall, SDS Alliance is launching a gene therapy survey on our patient survey and registry platform, SDS-GPS. It will ask you about your priorities, your concerns, and your perspectives on three different approaches being considered for SDS. Your responses will inform researchers and help shape how gene therapy is developed for SDS patients. The survey opens in September. But you can get ready now. We have built an interactive educational tool to help you understand the landscape before the survey opens. It includes the three approaches being studied, who they are designed for, and what we still don't know. The science behind gene editing for SDS is also explained, but it's optional. The tool is designed for patients and families, not scientists. No prior knowledge needed. And if you are not yet on SDS-GPS, now is a great time to set up your account. Onboarding takes about 30–60 minutes, and once you are set up the survey will be waiting for you in September. A note on timing We know the question families most want answered is "when". We cannot give you a an exact date. What we can tell you is that the science is advancing, the tools exist, and the SDS community is making progress. Clinical trials for other blood disorders are generating data that will pave the path for SDS. And you sharing your voice now is a critical piece of the puzzle. The question is no longer if. It is when — and how well-prepared we are when the moment arrives. Your perspective is part of that work. Join us. Questions about this survey or SDS-GPS? Contact us at gps@sdsalliance.org Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

One year ago, on June 4th, 2025, the SDS community gathered in Cincinnati — and online from around the world — for the Shwachman-Diamond Syndrome Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting. Patients and parents spoke from a podium, sat in an audience, and raised their hands. Young adults described what it felt like to grow up with an invisible disease. A documentary film premiered. And for one full day, the people who live with SDS — or love someone who does — told the research and regulatory community exactly what it means. Today, on the one-year anniversary of that impactful meeting, SDS Alliance is proud to share that the official Voice of the Patient (VoP) report for Shwachman-Diamond Syndrome has been published, submitted to the FDA, and made available to the world. Your voice is now a document. A citable, permanent, freely available document — and it is already at work. Read the full VoP report at www.sdsalliance.org/pfdd#vop → In this month's SDS Spotlight, Eszter Hars, PhD, marks the one-year anniversary of the SDS EL-PFDD meeting and shares what came of it — including the publication of the Voice of the Patient report. Watch the video below, then read on for the full story. What Is a Voice of the Patient Report? The Voice of the Patient report is the official output of an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting — a type of meeting structured by the FDA to systematically capture the patient perspective on a specific disease. The FDA's Patient-Focused Drug Development initiative was established because patients and caregivers have knowledge that clinical data alone cannot capture: what it actually feels like to live with a disease, which symptoms matter most, what trade-offs families are willing to accept, and what a meaningful improvement in daily life would actually look like. For Shwachman-Diamond Syndrome (SDS) — a rare disease that affects an estimated 2,000–3,000 people in the United States — this kind of document has never existed before. Until now. What the Report Captures The report documents the input of patients and caregivers who participated in the June 4th, 2025 EL-PFDD meeting through prepared panel statements, moderated audience discussion, live polling, written comments, and a community survey. We also capture a brief video memory of the meeting itself. Wacth it below. The full report was prepared by Eszter Hars, Ph.D. of SDS Alliance in collaboration with Vanessa Merker, Ph.D. of Massachusetts General Hospital and Harvard Medical School, with guidance from FDA and legal and regulatory experts at Hyman, Phelps & McNamara. The report is organized around two core topics that defined the meeting. Topic 1: Living with SDS — Symptoms and Daily Impacts Patients and caregivers described SDS as a multisystem, lifelong disease with profound physical, emotional, and social consequences — not only for the person diagnosed, but for their entire family. Chronic infections disrupt schooling and careers. Feeding difficulties and poor growth shape children's earliest years. Skeletal complications may limit mobility and require multiple surgeries. Cognitive and neurodevelopmental issues cause challenges in school and work. And all of it is often invisible — leaving families to constantly explain a disease that others cannot see. Above all, the fear of leukemia dominates. It shapes where families travel, what activities are possible, and how every treatment decision is made. As Cresta, an adult living with SDS, described: It causes me anxiety to wait weeks for the results and wonder if it will be positive or negative, and will I be facing death soon. In the live polling, the stress of not knowing if or when leukemia might develop was tied for the top worry about the future — selected by nearly every respondent. As Nicole, mother of ten-year-old Roman, captured: SDS doesn't just steal health — it robs childhoods, careers, and stability." Topic 2: Patient Perspectives on Current Treatments and Future Therapies Current treatments — hematopoietic stem cell transplant (HSCT), G-CSF, pancreatic enzyme replacement therapy, and supportive care — have extended and improved lives. Patients and families are deeply grateful for them. But none addresses the underlying cause of SDS, many carry high physical and emotional costs, and many symptoms have no treatment at all. The community's priorities for future therapies were consistent and clear: reduce the risk of leukemia; provide alternatives to transplant or make it safer; develop treatments that patients can actually tolerate; improve growth and reduce skeletal complications; and reduce the burden of ongoing surveillance. When patients and families say they want treatments that are safe, they mean above all else treatments that do not increase the risk of leukemia. A longtime community member captured both the exhaustion and the determination that defined the day: I hate transplants. I hate Neupogen. I hate it all. But there is progress. Keep pushing. Why This Report Matters — and How It Will Be Used Voice of the Patient reports are a formal tool in the FDA's drug review process. The FDA uses them to inform benefit-risk assessments when reviewing new therapies, to understand what outcomes matter most to patients, and to provide context that clinical trial data alone cannot. Drug developers use them to design clinical trials, select meaningful endpoints, and understand the patient population they are developing therapies for. Researchers cite them in grant applications to demonstrate that their work is grounded in patient-identified priorities. For a rare disease like SDS — where the patient population is small and the research infrastructure is still developing — a well-documented VoP report carries particular weight. This report has a permanent DOI (https://doi.org/10.5281/zenodo.20126868) and is published under a Creative Commons Attribution 4.0 license, meaning it can be freely cited, shared, and adapted with appropriate attribution. It is also submitted to the FDA docket. Any researcher, drug developer, or regulatory reviewer working on SDS can read exactly what the SDS patient and caregiver community said — in their own words — about what matters most and what is at stake. As Joyce, a high school student living with SDS, described her experience: A kid like me shouldn't have to determine their dream university based on whether there is a medical professional within 100 miles who is even aware of their condition. This and many other heartfelt insights are now in a citable document. What You Made Possible This report came to life because of the nearly a hundred people who showed up on June 4th, 2025 — in Cincinnati, online, in the survey, in the written comments, and in the documentary film that premiered that day. Every person who shared their story, answered a poll question, or sat in the audience contributed to a document that will guide the teams developing treatments for SDS. The report was prepared and submitted on behalf of SDS Alliance by Eszter Hars, Ph.D., in collaboration with Vanessa Merker, Ph.D. (Massachusetts General Hospital and Harvard Medical School). Major funding for the EL-PFDD meeting was provided by the Chan Zuckerberg Initiative (Rare As One program) — now Bi[o]hub — and PCORI as part of a Eugene Washington PCORI Engagement Award (EASO-42419). To cite the report, we suggest: Hars E, Merker V. (2026). Voice of the Patient Report for Shwachman-Diamond Syndrome. SDS Alliance. https://doi.org/10.5281/zenodo.20126868 What Comes Next: Continuing to Build With Your Voice through Project PACER Publishing the VoP report is one piece of a larger effort to ensure that the SDS patient perspective is embedded in every conversation about this disease — in research, in clinical care, and in the resources that help families navigate a diagnosis. This month, SDS Alliance is launching story recruitment for the PACER manual — Living with Shwachman-Diamond Syndrome: A Practical Guide. This is a comprehensive resource being developed with clinical experts from around the world, with patient and family stories at the center of every chapter. The first thing a reader will see in each chapter is not a clinical summary, but a real person describing a real-life experience with SDS. Over the coming months, we will be inviting stories on different topics — physical symptoms, daily life, mental health, research participation, and more. Watch for more details, and visit www.sdsalliance.org/pacer#patients to learn how to get involved. We are also recruiting clinical and research experts to contribute chapter overviews. If you are a clinician or researcher interested in contributing, visit www.sdsalliance.org/pacer#professionals for details. Read the Report The full Voice of the Patient Report for Shwachman-Diamond Syndrome — including the executive summary, full topic summaries, live polling results, and appendix — is available at: www.sdsalliance.org/pfdd#vop For questions about the report or to request permission to adapt or use it, contact patientvoice@sdsalliance.org. SDS Alliance is a US-based 501(c)(3) nonprofit organization serving the global SDS community. Our mission is to improve and save the lives of people affected by SDS by accelerating research and therapy development. Learn more at www.sdsalliance.org. Subscribe to get email reminders about new blog posts and more: ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Last month, SDS Alliance announced a significant grant from the RTW Foundation for prime editing gene therapy development for Shwachman-Diamond Syndrome — one of the most promising developments in our research portfolio to date. In that post, we introduced an analogy that has been at the heart of how we think about our work: We tend a garden. SDS Alliance does not direct all resources to a single project or a single researcher. We fund multiple therapy pathways simultaneously, build the research infrastructure every scientist in this space needs, and constantly seed new global collaborations. In this garden, our patients and families are the sun. Their energy, their participation, and their collective voice draw researchers, biotech partners, and major funders to our work in ways that no grant application alone can replicate. Today, we want to talk about how you can help water it. You do not have to fundraise to support this mission Participating in SDS-GPS and other research opportunities, volunteering your skills, attending events, and simply staying connected all make a real difference. Fundraising is one option — not an obligation. Patients and families already carry the weight of life with SDS, and SDS Alliance does not expect anyone to shoulder the cost of drug development. That said, when families do choose to fundraise, it matters a great deal — both for the dollars raised and for something less obvious but equally important. Why community fundraising matters beyond the dollars Here is something that surprises many patients and families when they first hear it: the size and engagement of the SDS community is something that biotech companies and research funders actively look at when deciding whether to invest in SDS. A large and growing base of community participants, and donors — even at $5 a month — sends a message that this community is organized, united, and determined. That credibility opens doors that grant applications alone cannot. When SDS Alliance engages with a research partner or a major funder, the strength of our community is a big part of what we bring. In rare diseases, participation matters as much as dollars. Every voice counts. Introducing: Fundraise Your Way to #CureSDS We just published a free 23-page community fundraising guide — Fundraise Your Way to #CureSDS — for patients, families, and community supporters who want to do something, on their own terms, without it taking over their lives. The guide covers eight ways to get involved, starting with the simplest: ① Double Your Impact with Employer Matching. The "No-Lift" Option. Check if your employer participates. ② Make an Introduction — if you know a company or foundation that might want to support SDS research, you don't need to make the pitch yourself. A simple email introduction is enough. ③ Pledge your birthday or a special occasion ④ Send a holiday appeal with your annual card mailing ⑤ Host a low-lift partnership fundraiser ⑥ Launch a t-shirt fundraiser through our Bonfire store ⑦ Join Step Up to #CureSDS, our annual virtual fitness fundraiser ⑧ Create your own local event — from a bake sale to a charity golf tournament to anything that works for your community What's inside the guide Beyond the options, the guide includes practical tools accessible to patients and families for the first time — all in one place: A storytelling section that walks you through how to tell your family's story in a way that actually moves people — with a real example and a fill-in template you can personalize in minutes. Ready-to-use social media templates for every stage of a fundraiser — launch, midpoint, thank-you, and final push — as well as occasion-specific templates for birthdays, Step Up to #CureSDS, and local events. An appeal letter template that works as a printed letter, a card insert, or an email, with guidance on how to adapt it for each format. A free personalized fundraising video — one of the most distinctive things SDS Alliance offers. We will take your family's photos and short video clips and create a personalized version of our SDS fundraising video, at no cost, any time of year. You just send us your photos. We handle everything else. A step-by-step guide to setting up your personal GiveLively fundraising page at sdsalliance.org/fund — with screenshots, plain-language field descriptions, and tips for making your page as effective as possible. Real families, real results The best proof that this works: real SDS families who have done it. Rebecca, mom to Declan, who lives with SDS, has raised thousands of dollars for SDS Alliance through Team Declan, using everything from our annual virtual Step Up (fitness) fundraiser to a charity hockey game. She presented her family's experience at SDS POPS 2025 — our annual virtual SDS Patient and Advocacy Summit. The recording is linked below and in the guide, too. As she put it: "I used to feel overwhelmed thinking I had to plan a massive gala to make a difference. But when we started small — a customized t-shirt drive and joining the Step Up to #CureSDS challenge — I realized how much our friends and family wanted to support us. They just needed a simple way to do it. It didn't take over our lives. It gave our family a profound sense of hope and control." Watch Rebecca's full presentation here. Click to go to her section. How your fundraising connects to the garden SDS Alliance uses a strategic, milestone-driven approach to research funding. We do not write blank checks to researchers. We negotiate outcome-based agreements and make milestone payments only when science delivers. Community fundraising gives us the resources and credibility to pursue and sustain those efforts — to keep the garden growing even when one path hits an obstacle. As we said in a recent post: Funding does not equal impact. Funding plus strategy does. Every dollar raised by our community strengthens our ability to pursue the partnerships and programs that will give SDS families more birthdays to celebrate. Get started Download the free guide at sdsalliance.org/fundraise, or set up your personal fundraising page right now at sdsalliance.org/fund. Questions? Ready to talk through an idea? Email us at gifts@sdsalliance.org — we will help you find the right fit. Want to receive our year-end fundraising toolkit when it launches this November? Sign up for SDS Alliance updates and we'll make sure you don't miss it. There is strength in numbers. Let's use it to #CureSDS. Subscribe to get email reminders about new blog posts and more: ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below