In 2023, Shwachman-Diamond Syndrome was assigned code D61.02 in the US ICD-10 coding system. This is the first time and place SDS has a unique and specific code. Read all about it here. ICD-10 and other coding for SDS: All you need to know What is ICD or an ICD-10 code? "ICD" is short for the "International Statistical Classification of Diseases and Related Health Problems." Globally, it's the go-to classification system in healthcare, used by government bodies and researchers for monitoring and reporting various health issues, from diseases to injuries. Overseen by the World Health Organization (WHO), the ICD system has a history that stretches back to 1893, having evolved through 11 major updates since then. While the US and another 150 countries utilize ICD-10, the WHO has released the next revision, ICD-11, in 2022. However, each country transitions to new ICD editions at its own pace, sometimes taking years for full integration. Notably, although WHO finalized the ICD-10 in 1992, the US only adopted it in 2015. We anticipate that the US will stay on ICD-10 for many more years to come, as there is a huge administrative burden with the transition and no fixed deadline for its adoption. Up until now, SDS did not have its own code. SDS was basically invisible to the healthcare system...as if it didn't exist. As announced in this press release , this will soon change. Through a two-year effort by the SDS Alliance and its partners, the new ICD-10 code for SDS (D61.02) will go live in the US on October 1st, 2023. Whenever someone goes to the doctor with an issue, the provider's team will enter their symptoms and diagnoses into the ICD coding system that precisely - or as precisely as possible - defines what is wrong. Insurance companies use these codes to help determine coverage for interventions provided. The codes also make it into large databases - but without personal patient information such as their name or contact information to protect their privacy. These large databases allow researchers to search the data to answer various health-related research questions. Why do we need a code for SDS? To understand the importance of having a unique and specific code for SDS, and since it's summer, let’s think through an example. Let’s imagine you have SDS. It is a beautiful Saturday afternoon on a warm summer day, and you are enjoying an outdoor BBQ party with your friends and family. You apply your favorite mosquito repellent and are wearing long sleeves, but a nasty mosquito gets you anyway. The next day, the bite starts to hurt, swell and feel hot. It is now Sunday, so you decide to go to the ER to get it checked out. You receive a thorough exam, workup, and blood tests. Sure enough, the medical team there determines that it is cellulitis and that you need antibiotics. You go home with your doctor’s orders and make a full recovery within a few days. The staff at the hospital enter several codes into your medical record for billing purposes, such as a code for the ER visit, CBC with differential, blood cultures, blood pressure monitoring, neutropenia, cellulitis, and antibiotics. But no code for SDS - the root cause of the issues -, as there was none available. Now let’s imagine a researcher who wants to perform a scientific review of how often SDS patients visit the ER or how often they get cellulitis from mosquito bites. Without an ICD-10 code specific to SDS, the researcher can only search the databases for the symptoms and interventions as they were coded, such as cellulitis, neutropenia, CBD with diff, and antibiotics, but not the root cause of these issues (which is SDS). None of these codes, nor their combination or clever filters, are specific enough to pinpoint an SDS patient. Not even close. We have tried it ourselves and even consulted with a biotech company to try to find meaningful data and make it work. So the researcher cannot answer any such research question related to SDS, without an SDS-specific code. Now imagine how this will play out in the near future once the ICD-10 code for SDS (D61.02) goes into effect on October 1st, 2023, and gets wide-ranging use in the healthcare setting. More on this below. The researcher will easily be able to find data for their research on things like: How often do SDS patients use the ER? How often do they get cellulitis from mosquito bites? How were they treated? What was the outcome? Admission rate? Associated conditions or correlations with other symptoms? Where were they seen? And so on. The ICD-code resource by the Everylife Foundation further explains: “As described by the WHO, maintenance and use of this standard classification systems allows for: Easy storage, retrieval and analysis of health information for evidenced-based decision-making Sharing and comparing health information between hospitals, regions, settings and countries Data comparisons in the same location across different time periods. Consider the power of understanding which types of medical specialties are diagnosing a particular rare disease or having the ability to track changes in patients’ health outcomes after a new therapy is approved for their disease. A payer’s medical policy decisions for a new therapy might be based on an assessment of how many individuals covered by their plans have a particular diagnostic code in their record. These are the types of queries made possible through ICD codes. They are also the types of assessments that can be distorted by imprecise or out-of-date codes.” And that is why we need YOUR help! Please read on. What can YOU do to help? To achieve the benefits described above, it is critical that doctors, other healthcare providers, and their teams use the SDS code (D61.02) every time they see an SDS patient. We have developed a tool kit (below) to help you spread the word. Patients can help by telling all their healthcare providers about the new code, and encouraging other SDS families to do the same. We developed a toolbox to make it easy: Share this webpage (www.sdsalliance.org/icd) with all healthcare providers who encounter SDS patients, or print this flyer and hand it to them. This includes the patient's primary care doctors, specialists, and other important healthcare providers such as nutritionists, PT, OT, SLPs. Order your FREE promo toolkit including sticky notes (here ) and hand them to all your healthcare providers at all upcoming appointments. Share this information with all US SDS families, for example, by sharing our social media posts and this webpage. Ask your healthcare providers to spread the word to their colleagues, too. Fill out this emergency form (coming soon) and carry it with you in case of emergency. It is designed to help you all relevant information about the patient, plus the new code. Healthcare providers can help by: using the code for their SDS patients at every healthcare encounter sharing this information with their networks using the sticky notes available free of charge (here ) to notify their coding team New T-shirts for ICD-10! Here is an extra fun way to share the news and spread the word. And it supports research at the same time. Do you need a new fun shirt for your upcoming doctors appointments of SDS meetup? Look no further! Exclusive at www.bonfire.com/icd-10 and at our Bonfire store . How did the SDS Alliance and its collaborators make this happen? First, it is important to acknowledge that given the importance of ICD codes, the process for updating codes – by design – is evidence-based, deliberative and thorough. Those who oversee the coding system must balance the needs of individuals and organizations seeking to revise codes with the integrity of the coding system as a whole. The path to obtaining a new code for a previously unclassified disorder involves a long and challenging process. In the US, the CDC’s ICD-10 Coordination and Maintenance Committee selects proposals for live presentations either at its headquarters in Baltimore or virtually twice a year. In December 2021, the SDS Alliance, aided by Medical Advisory Board member and NICER consortium director Dr. Kelly Walkovich, University of Michigan, C.S. Mott Children's Hospital, along with collaborator Dr. Alison Bertuch, Texas Children's Hospital and Baylor College of Medicine, submitted a proposal for a new code. Their proposal was then selected for presentation at the March 2022 meeting. During the public comment period that followed, major organizations such as the NIH iBMF study, the American Society of Hematology, the Leukemia and Lymphoma Society, AA/MDS, and The American Society of Pediatric Hematology/Oncology, submitted letters of support. The new code was officially accepted in July 2023 and will be active starting October 1st, 2023. The SDS Alliance credits Dr. Terry Jo Bichell from COMBINEDBrain for her guidance and support throughout the effort. More information on our partners and collaborators and the impact of the ICD-10 code are availab le in this press release . What does the letter and number of the code mean? The ICD-10-CM is highly structured and specific codes must conform to tightly managed classification conventions and go through a rigorous system to make any changes or additions. The diagnosis coding system itself is divided into two parts: Alphabetic Index: An alphabetical list of terms and their corresponding code. In the case of SDS, the code is under Chapter 3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89). This is where the D in D61.02 comes from. Tabular List: A structured list of codes divided into chapters based on a body system or condition that contain categories, subcategories and codes that use a combination of letters and numerals to create unique identifiers. The ICD-10-CM uses an indented format for ease of reference. Categories: Three characters – a letter followed by two numerals. If there is no further subdivision of a category, it is equivalent to a code. SDS got more. For SDS, it is Category: Aplastic and other anemias and other bone marrow failure syndromes (D60-D64). This is where D61 in D61.02 comes from. Subcategories: The category (a letter plus two numerals), followed by a decimal point and then a subcategory (letter(s) or numeral(s)) for a total of either 4 or 5 characters. For SDS, these are the last two numbers or .02 in D61.02 to define the complete code. Codes: May be a total of 3 to 7 characters. The 6th and 7th characters are generally used to provide additional context, for instance, with regard to timing or treatment status (controlled or uncontrolled), and are not used for SDS. As you know by now, the complete, unique, and specific code for SDS is D61.02. Frequently Asked Questions (FAQ) Does the new ICD-10 code for SDS (D61.02) replace all other codes my provider used in the past? No! The new diagnostic code is to be used in addition to all the other codes your provider needs to use in order to describe the current issues they are treating to get your insurance to cover the cost. The new code for SDS indicates the underlying cause . In the future, it may help you get coverage for services by letting the insurance company know that it makes sense to cover specific services due to SDS, whereas otherwise, they would not. For example, because SDS is known to be a genetic disorder, insurance companies may be more likely to cover genetic testing if there is a clear indication, such as an SDS diagnosis (based on symptoms alone). How is SDS defined for the ICD-10 code? The ICD-10 code system does not include a set of symptoms or diagnostic criteria. It is simply a code to reflect in the medical record system that a patient is diagnosed with SDS. Making a diagnosis is under the treating physician's or specialists' purview, usually based upon published diagnostic guidelines, such as those listed on our publications and guidelines page . Where can I learn more? Le arn more ab out ICD-10 codes at the ICD-code resource by the Everylife Foundation

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Shwachman-Diamond Syndrome Alliance (SDS Alliance) news SDS Alliance News 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. SDS Alliance News Aug 6 Your Data, Reaching Further SDS-GPS Joins RDCA-DAP by C-Path Your SDS-GPS data just gained international reach. Learn how a new integration with RDCA-DAP is helping turn patient experience into real progress toward SDS treatments, and what it means for your privacy. SDS Alliance News Jul 23 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. SDS Alliance News Jul 9 One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. SDS Spotlight Jun 4 How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. SDS Alliance News May 30 SDS Alliance Receives Grant from RTW Foundation to Advance Prime Editing Gene Therapy for Shwachman-Diamond Syndrome SDS Alliance announces a grant from RTW Foundation supporting prime editing gene therapy research for SDS at Boston Children's Hospital. #CureSDS SDS Spotlight May 7 Your Data is Safe: What Newly Diagnosed SDS Families Need to Know About SDS-GPS Newly diagnosed with Shwachman-Diamond Syndrome? Learn how SDS-GPS protects your privacy while helping advance research and therapies for SDS. SDS Alliance News Apr 28 Living with Shwachman-Diamond Syndrome: What Lab Tests Can't Tell Us Your (or your child's) ANC came back stable. But were they really feeling okay? Discover how SDS Alliance is adding Quality of Life (PROMIS) surveys to SDS-GPS — measuring what lab tests can't capture, and building the data we need for clinical trials by 2030. SDS Spotlight Apr 2 Project PACER: Building Shwachman-Diamond Syndrome Education Together Take our 5-minute survey to shape Project PACER - a comprehensive Shwachman-Diamond Syndrome education manual and course. Co-created by patients, caregivers, and medical experts. PCORI-funded initiative. SDS Learning Resources Mar 5 2025 Impact Report: How the SDS Community Is Advancing Research Toward Therapies Read the 2025 SDS Alliance Impact Report to see how patient voice, research strategy, and collaboration are advancing therapies for Shwachman-Diamond Syndrome. SDS Alliance News Jan 9 Introducing Monthly Giving Allies: How Small Monthly Gifts Help Accelerate SDS Research and #CureSDS Learn how the SDS Alliance’s Monthly Giving Allies program helps fund research, support therapy development, and build momentum toward clinical trials for Shwachman-Diamond syndrome (SDS). Even small monthly donations make a meaningful impact. SDS Alliance News Nov 8, 2025 SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome. We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. SDS Alliance News Jul 27, 2025 FDA provides positive feedback on the SDS EL-PFDD meeting, valuing the Patient Voice Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, and other stakeholder. SDS Alliance News Jul 16, 2025 Reflections from Cincinnati 2025 and impact of the patient voice Our reflections. Cincinnati hosted two key events for SDS in June 2025: the SDS PFDD meeting and the International Scientific Congress on Shwachman-Diamond Syndrome SDS Alliance News Jun 23, 2025 SDS Patient LENS Study Now Open Apply today. SDS Alliance open a new qualitative research study -- the SDS Patient LENS Study -- to understand the unique lived experiences, SDS Alliance News Feb 1, 2025 Register for Community Webinar and Q&A to prep for SDS PFDD Meeting Join the community webinar and Q&A session to learn all about the EL-PFDD meeting on Shwachman-Diamond Syndrome and get answers about it all SDS Alliance News Jan 18, 2025 Amazing Opportunity to Share SDS Patient Perspectives with FDA: EL-PFDD Meeting Planned June 4th, 2025 Be a Speaker/Panelist! The FDA has accepted our request to hold an Externally-Led Patient Focused Drug Development Meeting for SDS on 6/4/25 SDS Learning Resources Jan 7, 2025 SDS-POPS 2024 Recordings and Resources Now Available! SDS Alliance Blog 2024-12-08 In this issue: SDS-POPS 2024 covers a wider range of topics, including SDS patient voice, stories, film, and advocacy, and SDS research and SDS Learning Resources Dec 8, 2024 SDS & Science Snapshots (2024-11-02) In this issue: The SDS Alliance team is ready for Global SDS Awareness Day and Action Week! A recap of the CZI Science in Society meeting. SDS Learning Resources Nov 3, 2024 Announcing the Winners of the 2024 Million Steps Closer to #CureSDS Challenge In this issue: The results of the 2024 Million Steps Closer to #CureSDS Challenges are in! SDS Alliance News Nov 2, 2024 Celebrating Inaugural Global SDS Awareness Day and Action Week: November 1-7 In this issue: SDS Alliance raises awareness about Shwachman-Diamond Syndrome and inspires action in the community SDS Alliance News Nov 2, 2024 SDS Alliance shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. SDS & Science Snapshots (2024-10-26) In this issue: SDS Alliance shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. SDS Learning Resources Oct 12, 2024 New Publication by the SDS Alliance Highlights SDS as a Therapeutic Target. SDS & Science Snapshots (2024-08-17) New Publication by the SDS Alliance. From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Dev SDS Learning Resources Aug 17, 2024 Free Genomic Sequencing for SDS through New Collaboration with Rare Genomes Project. SDS & Science Snapshots (2024-07-13) In this issue: New research genetic testing opportunity for individuals suspected to have SDS! SDS Learning Resources Jul 13, 2024 SDS Alliance Presents at the International INNOCHRON Scientific Meeting. SDS & Science Snapshots (2024-04-20) In this issue: SDS Alliance highlights the patient voice at the international INNOCHRON meeting in Greece! Welcome to our timely updates... SDS Learning Resources Apr 20, 2024 How Elijah inspired Hero Kids in the Making - an SDS Story from the US I wanted my son to see himself as a brave hero overcoming his reasonable fears associated with the pain and uncharted aspects of his medical SDS Patient Stories and News Feb 11, 2024 Osmosis Video on Shwachman-Diamond Syndrome Receives over 4K Views within a Month of Publication Huge SDS advocacy and awareness win: Osmosis video on Shwachman-Diamond Syndrome receives thousands of views, with millions more to follow SDS Alliance News Dec 2, 2023 2023 Annual Global Virtual Fundraiser - 4 Million Steps Closer to #CureSDS - Huge Success This October, we conducted the 4th annual global virtual fundraiser to support SDS research. The theme this year was 4 MILLION STEPS... SDS Alliance News Oct 21, 2023 SDS Community Represented at the Chan Zuckerberg Initiative's Science and Society Meeting This September, we took to opportunity to introduce the Shwachman-Diamond Syndrome community at the Chan Zuckerberg Initiative (CZI)... SDS Alliance News Oct 10, 2023 Shwachman-Diamond Syndrome Receives ICD-10 Code, Paving the Way for Improved Care and Therapies Shwachman-Diamond Syndrome receives new ICD-10 Diagnostic Code, Paving the Way For Improved Patient Care and New Treatment Options. Code... SDS Alliance News Aug 8, 2023 SDS & Science Snapshots (2023-01-14) In this issue: Comprehensive review article on bone marrow surveillance of SDS patients by Drs. Shimamura and Reilly; and a recap of ASH... SDS Alliance News Jan 15, 2023 SDS Cell Biobank Pilot Project a success! After the successful launch of the mouse model project last year and advancing it to phase two this year, we have expanded our efforts to... SDS Alliance News Dec 11, 2022 SDS Alliance Meets with the FDA Dr. Eszter Hars (SDS Alliance president and CEO) joined the FDA CBER OTAT Patient-Focused Drug Development Listening Meeting. SDS Alliance News Dec 3, 2022 2022 Annual Global Virtual Fundraiser - Three Million Steps Closer to #CureSDS - Huge Success Again This October, we conducted the third annual global virtual fundraiser to support SDS research. The theme this year was THREE MILLION... SDS Alliance News Oct 22, 2022 SDS Alliance meets with the White House Cancer Moonshot Team September 30th is Rare Cancer Day. We marked the day by taking action and meeting with the White House Cancer Moonshot initiative in... SDS Alliance News Oct 4, 2022 SDS Alliance is Awarded JumpStart Grant for iPSC Development We are so honored and excited to announce that we won the JumpStart Research Tools Matching Grant through The Orphan Disease Center (ODC)... SDS Alliance News Sep 8, 2022 Mouse Model Project Update: Phase I complete! We are happy to report that Jackson Laboratory has completed the first phase of the project. They have created mice in which a large segment SDS Alliance News Aug 29, 2022 Dr. Eszter Hars chosen by The Milken Institute to join FasterCures LeaderLink Program SDS Alliance’s President and CEO, Eszter Hars Ph.D., has been chosen by The Milken Institute to join the FasterCures LeadersLink Program.... SDS Alliance News Apr 23, 2022 Introducing Ribo & Somi, the RIBOSOME Superheroes The last day of February is Rare Disease Day, but for us - rare disease families and advocates - every day is rare disease day. But no... SDS Alliance News Feb 2, 2022 Our Team is Growing: Welcome Lisa Superina as our new Family and Community Engagement Ambassador. Lisa lives on Long Island, New York, with her husband and four daughters. Her two youngest daughters, Nora and Kayla, were genetically... SDS Alliance News Jan 29, 2022 SDS Alliance Awarded Chan Zuckerberg Initiative “Rare As One” Grant Woburn, MA (November 3rd, 2021) — The SDS Alliance is delighted to announce that the organization has been awarded a prestigious grant... SDS Alliance News Nov 3, 2021 2021 Annual Global Virtual Fundraiser - Two Million Steps Closer to #CureSDS - Huge Success At the end of September, we conducted the second annual global virtual fundraiser to support SDS research. The theme this year was TWO... SDS Alliance News Oct 10, 2021 Elevating Shwachman-Diamond Syndrome's Standing From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the incredible honor to be invited to speak at the 2021 Global Genes RARE... SDS Alliance News Sep 30, 2021 Bringing Shwachman-Diamond Syndrome to the Forefront From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the great honor to be invited to speak on a patient-centered panel at the NICER... SDS Alliance News Sep 25, 2021 Mouse Model Project: Meet the Scientists! From the Founder, Dr. Eszter Hars Dear SDS community, I am so excited to have been able to launch this project. To recap: This project is... SDS Alliance News Jul 7, 2021 Advocating for SDS Research at Rare Drug Development Symposium This week, I had the great honor to present at the 2021 Rare Drug Development Symposium, hosted by Global Genes and the UPenn ODC. SDS Alliance News Jun 13, 2021 The SDS Alliance Launches Mouse Model Project with The Jackson Laboratory SDS Alliance has just launched a project with The Jackson Laboratory to develop an SDS mouse model—the key first step toward a cure for SDS. SDS Alliance News May 29, 2021 A Cure for SDS: Our Mission From the Founder, Dr. Eszter Hars “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world... SDS Alliance News Jan 15, 2021

Living with Shwachman-Diamond Syndrome / SDS is hard. Find critical resources and community connections, here. This page is dedicated to parents and caregivers of SDS patients of any age. Parent & Caregiver Resources What is SDS? Talking to and Supporing Kids Parent and Caregiver Resources Financial Support Resources Connect: Peer Support & Communities The Science Behind SDS Participating in Research Podcasts about Rare Disease/SDS Talking to and supporting kids through the physical and mental challenges of SDS Talking to kids Explaining blood, bone marrow, and transplant This is an amazing education video published by our friends at the Fanconi Anemia Research Fund (FARF) about How to Talk to Children About Fanconi Anemia (FA). FA is a genetic bone marrow failure syndrome with many similarities to SDS, and most of the content of this video is directly applicable to the SDS community! It includes explanations about the blood, bone marrow, and transplant, and suggestions of HOW to talk to children about these topics. Ideas for supporting learning, cognitive, and behavioral challenges 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. Ideas for supporting children and their siblings Beads of courage Plus, check out our kids' corner with resources just for kids! Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey Toolkits by Global Genes Resources for parents and caregivers for themselves. (Put on your oxygen mask first). Parent resources Resources to deal with anticipatory grief and loss This resource sheet (PDF with links) and list with additional resources was put together by members of the Fanconi Anemia community and may be helpful to our SDS community as well. Sharing here with their permission. Inanacare : A great resource with webinars, blogs, and a podcast for caregivers. Their mission is to encourage, empower, and equip family caregivers with practical tools and supportive communities, so no caregiver does this alone. They have a free app, a podcast, and webinars as ways to support caregivers and provide practical resources. Connecting with SDS families in your area "who get it" Check out our peer-to-peer page Family planning discussions, including IVF We have a private Facebook group to support families going through IVF. Please contact us at connect@SDSAlliance.org to learn more. Financial and other support for medication and transporation Financial support Transportation Miracle Flights – Provides free domestic or international travel to U.S. facilities for medical treatment, second opinions, and follow-up for patients in need. Angel Flight – Arrange free air transportation for any legitimate, charitable, medically related need. This service is available to individuals, and healthcare organizations. Julia’s Wings – The Julia’s Wings Foundation (JWF) is a 501(c)(3) non-profit organization with the mission of providing assistance to families of children with the life threatening hematological disease General Health Well Foundation – Pedatric Assistance Fund 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. Bone Marrow/Stem Cell Transplant Be the Match (National Marrow Donor Program) – Nonprofit organizations dedicated to creating an opportunity for all patients to receive bone marrow or umbilical cord blood transplant when needed. Bone Marrow and Cancer Foundation – Patient aid program that provides coverage for many costs associated with bone marrow, stem cell or cord blood transplant. BMT InfoNet – The BMT InfoNet Patient Assistant Fund (PAF) assists patients and caregivers with living expenses during treatment. Children’s Organ Transplant Association (COTA) – Provides fundraising assistance for children & young adults needing bone marrow transplants. Also advocates for marrow, organ and tissue donation DKMS: We Delete Blood Cancer – A non-profit advocacy group that works to raise awareness of the need for donors for hematopoietic stem cell transplantation, which people with blood cancers need for treatment. Information on frequently used medication Clinical decision guide by AvoMD for physicians for pancreatic enzyme replacement therapy (PERT) - patients can point their provider to this resource to optimize their care. Provided by Mission:Cure . CREON: https://www.creoninfo.com 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] Additional resources List compiled by NORD Medication Copay Assistance Progams (US)

We are actively working on growing our medical and scientific advisory board. If you have expertise in hematology, data science, genomics, gene and cell therapy, drug development, and related fields, we would love to talk. Meet the Team SDS Alliance Leadership, Staff, and Key Volunteers SDS Medical and Scienctific Advisory Board Strategy and Therapy Development Advisory Board SDS Alliance Leadership, Staff, and Key Volunteers Ashley Thompson Eszter Hars, Ph.D. Founder and CEO, SDS Alliance Dr. Hars holds a Ph.D. in Molecular Biology from the University of Medicine and Dentistry of New Jersey, where she studied cancer and leukemia. She has over 20 years of experience in scientific research and the biotech industry. As VP of Regulatory Affairs at CytoVera Inc., a lab equipment developer for hematopoietic stem cell banking, Dr. Hars was in charge of regulatory approval of medical devices by the U.S. Food and Drug Administration. Dr. Hars has also managed business development as well as customer relationships at Quosa Inc., an information technology company, which was acquired in 2012 by Elsevier, the largest scientific publisher in the world. Dr. Hars has been engaged in SDS community building and volunteering wherever possible since her daughter was diagnosed with Shwachman-Diamond Syndrome (SDS) in 2015. In 2020, Dr. Hars founded the SDS Alliance, a 501(c)(3) nonprofit organization serving the global SDS community. Through the SDS Alliance, Dr. Hars is dedicated to accelerating the development of new therapies for SDS. Her new publication - From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development - highlights recent advances in the SDS field. New: Schedule a call with me here. Ashley Ferreira Ashley Thompson, MS, CGC Genetic Project Manager, SDS Alliance Ashley Thompson, MS, CGC is a board-certified genetic counselor who received her Master of Science in Genetic Counseling from Bay Path University (Longmeadow, Massachusetts) in 2023 and now works in variant interpretation. She received her B.S. in Biochemistry from Converse College (Spartanburg, SC) in 2018 and graduated with honors in the field of chemistry. During her undergraduate career, Ashley was an NIH Undergraduate Scholarship Program Awardee for her efforts in biomedical research and selected for a position as a post-baccalaureate research fellow at the National Cancer Institute (NCI). From 2018 until 2023, Ashley studied the clinical genetics, epidemiology, and psychosocial impact of hereditary cancer predisposition syndromes. She was the first-author on several manuscripts including a cohort review aimed at investigating the relationship between SBDS variants and the clinical presentation of individuals with SDS participating in the NCI Natural History Study for Inherited Bone Marrow Failure Syndromes. During her fellowship at the NCI, Ashley's exposure to the critical role genetic counselors play in both research and the lives of those with a hereditary predisposition to cancer inspired her to become a genetic counselor herself. She is excited to contribute to the SDS community and enjoys volunteering with patient advocacy groups. She currently lives in the Washington, DC area and enjoys baking, trying new foods, and hiking with her dog, Julep, in her free time. Ashley Ferreira, BA, MPA Community Engagement and DEI Project Manager, SDS Alliance Ashley Ferreira started to work with us in 2023 as our consultant for DEI and Community Engagement and Education. Ashley earned a Master of Public Administration (MPA) degree from California State University in 2019 and has nearly 10 years of experience in community and patient engagement, including leading Diversity, Equity, and Inclusion initiatives and the national Walk for PI program at the Immune Deficiency Foundation. As a caregiver to several family members with chronic health issues, she is passionate about ensuring patients and caregivers have access to the resources they need to be their own best advocates, participate in research to accelerate treatments, and come together to raise awareness for their communities. She lives in Michigan with her family and several treasured rescue cats. Jacquelyn Kaufmann Poarch Chair, Adult SDS Patient Council, Clinical Education Lead, SDS Alliance Jacquelyn Poarch is an adult with SDS, who was diagnosed by Dr Harry Schwachman in 1976. She has been active in patient advocacy for over 25 years. Ms Poarch is a multi-subject certified teacher, who concentrates on science education, primarily secondary and tertiary school Biology, and Anatomy and Physiology, and Medical Terminology. She has had an eclectic career path, including as an opera singer in Europe, flying airplanes, and working in commercial aviation, as a social worker for the US Navy, and for the last 25 years, as a teacher. During the Balkan War, she formed a 501c3, and went to Bosnia, and removed 98 teens, placed them with American families, and in high schools so they could survive, and be educated. Ms Poarch has attended, and holds degrees and licenses from such diverse institutions as Universität Mozarteum, Salzburg, Austria, Manhattan School of Music (US), Columbia University (US), Stony Brook University (US), and Cambridge University (UK). She is a licensed phlebotomist, and a HIPAA educator, and speaks twelve languages. She is the mother of a daughter with an unrelated rare disease. In her role at the SDS Alliance, she manages the Adult SDS Patient Council, and finds, engages, and supports adult patients worldwide. We invite all adult SDS patients to participate and join the Adult SDS Patient Council. Joyce Fitz Youth Ambassador, SDS Alliance Joyce is a high school student living with SDS. She is a patient advocate passionate about various causes related to health, with ambitions to pursue a career in healthcare. She is also a talented singer, and a lover of horses and horse back riding. We can't wait to see where her journey will take her less, and the impact she will make with her advocacy efforts. SDS Medical and Scientific Advisory Board Lisa McReynolds Alan Warren Tim Olson Timothy S. Olson, MD, PhD Assistant Professor of Pediatrics, University of Pennsylvania (UPENN); Director of The Children’s Hospital of Philadelphia (CHOP)/UPENN Comprehensive BMF Center (CBMFC); Attending Physician in the Blood and Marrow Transplant Program at CHOP. Dr. Olson’s career is dedicated to clinical care for patients with acquired and inherited bone marrow failure syndromes (BMF) - including Shwachman-Diamond Syndrome - and conducting basic, translational, and clinical research investigating disease mechanisms and methods to improve treatment for these patients. He is an Assistant Professor of Pediatrics at the University of Pennsylvania (UPENN), a Director of The Children’s Hospital of Philadelphia (CHOP)/UPENN Comprehensive BMF Center (CBMFC), and an Attending Physician in the Blood and Marrow Transplant Program at CHOP. Dr. Olson's clinical efforts focus on pediatric hematopoietic stem cell transplantation (HSCT), with a specific emphasis on HSCT for patients with inherited and acquired bone marrow failure. Through his combined clinical activities in the Bone Marrow Failure Center within the Division of Hematology and the Blood and Marrow Transplant Section within the Division of Oncology, his goal is to facilitate outstanding care for patients with inherited bone marrow failure and acquired aplastic anemia during their transition from diagnostic evaluation to treatment through HSCT. In coordination with these clinical efforts, his clinical research program seeks to retrospectively and prospectively assess HSCT outcomes for patients with inherited and acquired bone marrow failure syndromes and other non-malignant hematologic conditions, including sickle cell disease and thalassemia major. He is the lead/site Principal Investigator of several investigator-initiated and multicenter clinical trials of HSCT for these diseases, for which the ultimate goal is to define optimal approaches to transplant timing, donor choices, and graft engineering. The goal of his laboratory research program is to improve HSCT outcomes by identifying methods to decrease the incidence of graft failure following HSCT, which is a particularly critical challenge in the setting of transplant for non-malignant conditions such as bone marrow failure. Methods are being examined to enhance donor hematopoietic stem cell engraftment efficiency following HSCT through enhancement of the functions of specialized areas of the bone marrow microenvironment, known as hematopoietic stem cell niches. Currently, therapeutic strategies are being tested that can be applied to enhance niche activity and receptivity for donor stem cells, which would in turn improve donor engraftment efficiency following clinical HSCT. Kelly Jo Walkovich, MD Associate Professor, Pediatric Hematology/Oncology; Executive Chair of NICER; Director of the Immuno-Hematology Comprehensive Clinic; University of Michigan, C.S. Mott Children's Hospital; Ann Arbor, MI, USA Dr. Walkovich is a pediatric hematologist-oncologist for the University of Michigan Health System. She received her medical degree from the University of Michigan and completed her residency at the Children’s Hospital of Philadelphia and a fellowship in hematology/oncology at the University of Michigan Health System. She oversees the care of multiple SDS patients in her region and ensures that they receive state-of-the-art care. Dr. Walkowitch launched the North American Immuno-Hematology Clinical Education & Research (NICER) Consortium and is now the Executive Chair. Spanning over 12 member medical institutions, the mission of the NICER consortium is to provide a collaborative multidisciplinary environment to advance the education, clinical care, and research involving pediatric and adult patients with immuno-hematologic disorders, including bone marrow failure disorders such as Shwachman-Diamond Syndrome. Some of the goals of NICER include leveraging the pooled, diverse resources of the members to create a platform for clinical trials, basic science, and translational research with the development of a clinically annotated database, biorepository and network of member centers unified via a central IRB, and partner with academic societies, institutes and patient-centric nonprofit like the SDS Alliance with mutual objectives, to empower the educational initiatives and accelerate research discoveries in areas related to immuno-hematology. Lisa McReynolds, MD, PhD Assistant Clinical Investigator, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, USA Lisa J. McReynolds, M.D., Ph.D., joined the Clinical Genetics Branch of the National Cancer Institute (NCI) in 2016. She earned her M.D. and Ph.D. at Albert Einstein College of Medicine, where she studied cell signaling in a zebrafish model of hematopoiesis. Dr. McReynolds then completed a residency in pediatrics at Morgan Stanley’s Children’s Hospital of New York-Presbyterian Hospital and fellowship through the joint program of Johns Hopkins University and NCI, followed by a clinical and postdoctoral research fellowship at the National Institute of Allergy and Infectious Diseases (NIAID) focused on GATA2 deficiency, an inherited bone marrow failure and immunodeficiency disorder. As a clinical fellow under the mentorship of Sharon A. Savage, M.D., Director and senior investigator, CGB, she focused on gene discovery and genome characterization in marrow failure patients in the inherited bone marrow failure cohort. Currently, Dr. McReynolds focuses on inherited predisposition to hematopoietic malignancies, in particular Shwachman-Diamond syndrome, incorporating genomics with epidemiology to understand their causes. Her research utilizes the Inherited Bone Marrow Failure Syndrome (IBMFS) and Transplant Outcomes of Aplastic Anemia (TOAA) cohorts to investigate the effect of both germline and somatic mutations on disease and transplant outcomes. She also studies the prevalence of pathogenic germline variation and the penetrance of disease in hematological malignancy predisposition syndrome genes in the general population. Professor Alan Warren Professor of Haematology, Cambridge University Hospitals, UK NHS Foundation Trust Professor Warren obtained his undergraduate degrees in Biochemistry (1983) and Medicine (1986) at the University of Glasgow. He completed his PhD in Molecular Biology in 1995 in the laboratory of Dr. Terry Rabbitts at the MRC Laboratory of Molecular Biology where he discovered that the LIM-only protein Lmo2 is required for haematopoiesis. He is currently Professor of Haematology at the University of Cambridge, UK, Clinical Lead for Bone Marrow Failure and Myelodysplastic Syndromes at Cambridge University Hospitals, and elected Fellow of the Academy of Medical Sciences in 2005. His lab is focused on ribosome biology and the clinical impact of its defects. Ribosomes are the universally conserved macromolecular machines that decode the mRNA to make proteins. Defects in the ribosome assembly process cause the 'ribosomopathies', a fascinating new group of human developmental disorders that perturb hamatopoietic stem cell function and promote progression to bone marrow failure, myelodysplastic syndrome and acute leukaemia. Professor Warren's lab discovered that defective assembly of ribosomes, the machines in all our cells that make protein, causes Shwachman-Diamond syndrome. Alyssa Lee Kennedy, MD, PhD Principle Investigator, and Assistant Faculty Member, Department of Hematology, St. Jude Children's Research Hospital Dr. Kennedy is a pediatric oncologist who received both her MD and PhD from Drexel University College of Medicine in Pennsylvania. She then completed a residency in pediatrics at the Boston Combined Residency program under Dr. Akiko Shimamura's mentorship, followed by a pediatric hematology/oncology fellowship at the Dana-Farber Cancer Institute/Boston Children’s Hospital where she published key research on clonal hematopoiesis in Shwachman-Diamond Syndrome in collaboration with Dr. Coleman Lindsley. Dr. Kennedy is interested in understanding the mechanisms of leukemogenesis in bone marrow failure syndromes in order to better prognosticate for patients and develop novel therapies, with a focus on Shwachman-Diamond Syndrome. In addition to her research, Dr. Kennedy actively sees both bone marrow failure and hematologic malignancy patients as a member of the Department of Hematology, and is the main physician following and taking care of Shwachman-Diamond Syndrome. Kenichiro Watanabe, MD, PhD Head, Department of Hematology and Oncology, Shizuoka Children’s Hospital Vice president, Shizuoka Children’s Hospital Dr. Watanebe is the Head of the Department of Hematology and Oncology, and Vice President at Shizuoka Children’s Hospital. He received his medical degree from Kyoto University and worked in the department of Pediatrics in Kyoto for many years. He completed a research fellowship in the Department of Hematology and Oncology at the Hospital for Sick Children, Toronto, right around the time that the main gene for Shwachman-Diamond Syndrome, SBDS, was discovered by Dr. Johanna Rommens' group at Sick Kids, which sparked his interest in SDS. He holds many prestigious memberships in professional groups, including Member, Hereditary Bone Marrow Failure Study Group, Research Program on Rare and Intractable Diseases, Ministry of Health, Labour and Welfare (MHLW), Japan; Steering Committee Member, Japan Pediatric Aplastic Anemia/Myelodysplastic Syndrome Treatment Study Group; Councillor, the Japanese Society of Pediatric Hematology/Oncology; and Member, International Society of Paediatric Oncology (SIOP). Most recently, he has played a key role in supporting the blossoming SDS patient community through webinars and outreach to families and colleagues. Coleman Lindsley, MD, PhD Assistant Professor, Medicine, Harvard Medical School and Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA Dr. Coleman Lindsley, M.D., PhD. is a physician scientist at Dana-Farber Cancer Institute, specializing in research topics associated with MDS. His career has developed in conjunction with his interest in how disease evolves, and in turn, how new and existing therapies can interrupt the process of disease progression. The clinical research focus he has chosen in addressing problems with MDS has led to work in two important areas; examining how the fundamental properties of MDS change over time, and the features of MDS that cause resistance to therapy. Dr. Lindsley’s efforts include longitudinal studies of individual MDS patients over time to track how their disease progresses, as well as large studies aimed at identifying shared genetic characteristics that may indicate patients’ responsiveness or resistance to therapies offered. The primary focus of the Lindsley laboratory is the biology and treatment of myeloid malignancies. We have used detailed genetic analysis of large cohorts of patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) to define genetic pathways of disease ontogeny and to identify mutations that predict overall survival after chemotherapy and stem cell transplantation. We use mouse and cell line models to dissect the mechanistic basis of genetic cooperation during myeloid disease progression, with a specific focus on mutations that cause epigenetic alterations. Christian Brendel, PhD Assistant Professor of Pediatrics at Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA Dr. Christian Brendel is Assistant Professor of Pediatrics at Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Harvard Medical School. Dr. Brendel’s research focuses on gene therapy for inherited diseases of the blood system. He contributed to the development and clinical translation of lentiviral gene therapies for X-CGD and Sickle Cell Disease, and his current research includes genome editing and the design of new delivery tools to make future gene therapies safer, more effective, and accessible, with the current focus on developing therapeutic options for Shwachman-Diamond Syndrome. He has been a wonderful partner and advisor to us, sharing his insights into possible strategies and roadblocks for gene therapy for SDS, as well as sharing his insights with patients at meetings. He works in close collaboration with Dr. David Williams' laboratory, the SDS registry, and multiple investigators in the area. Johnson Liu, MD Professor of Medicine, Hematology & Medical Oncology; Section Head Hematology, Division of Hematology & Medical Oncology. Mount Sinai, New York, USA Johnson M. Liu, MD, is Professor of Medicine (Hematology and Medical Oncology) and Section Head for Hematology within the Division of Hematology and Medical Oncology. Prior to joining Mount Sinai, Dr. Liu was at Maine Medical Center, where he held the Conley Family Endowed Chair in Hematology and served as Division Director of Hematology. His career has taken him to the National Heart, Lung, and Blood Institute; Albert Einstein College of Medicine; and the Zucker School of Medicine at Hofstra/Northwell, where he held the Les Nelkin Endowed Chair in Pediatric Oncology. He also was Associate Professor of Medicine and Director of Research with the Stem Cell Transplantation Program at Mount Sinai from 2002 to 2005. Dr. Liu's research interests include molecular hematopoiesis and development, gene and cell therapy, bone marrow failure syndromes, genetic blood disorders, and transition of patients from pediatric to adult medicine. Dr. Liu joined Maine Medical Center and MaineHealth Cancer Care in Portland in 2019, Maine, after serving as an attending physician at Monter Cancer Center, Long Island Jewish Medical Center, New York, for many years. He taught at the Zucker School of Medicine at Hofstra/Northwell, leading the hematology curriculum. He earned his MD degree from the University of Michigan Medical School and completed his residency at the Medical University of South Carolina and the National Institutes of Health. Dr. Liu was also a medical and hematology fellow and investigator at the National Institutes of Health, Bethesda, Maryland. His clinical interests include general hematology (anemia, thrombocytopenia, disorders of coagulation), bone marrow failure syndromes, myelodysplastic syndromes, acute and chronic leukemia, and multiple myeloma. He has played an instrumental role in the 2011 International SDS Congress and publishing the consensus guidelines for the diagnosis and treatment of Shwachman-Diamond Syndrome (see here), and has been caring for multiple adult SDS patients while practicing in NY. Yigal Dror, MD Head of the Haematology & Director of the Marrow Failure and Myelodysplasia Program at Sick Children, Toronto, Canada Dr. Yigal Dror is the Head of the Haematology Section and Director of the Marrow Failure and Myelodysplasia Program, senior scientist at the Genetics and Genome Biology Program at The Hospital for Sick Children, Toronto, and a member of the Institute of Medical Sciences at the University of Toronto. Dr. Dror graduated from the Hadassah Medical School of the Hebrew University in Jerusalem, and completed pediatric residency in Kaplan Hospital, Rehovot, Israel. He completed clinical fellowship in pediatric hematology/oncology and a post-doctoral research fellowship in the field of hematopoiesis and marrow failure syndromes/myelodysplasia at SickKids hospital, Toronto. In 2000 Dr. Dror assumed his current position as a clinician scientist at SickKids. His main clinical interests are in the area of bone marrow failure and myelodysplastic syndrome, in particular Shwachman-Diamond Syndrome (SDS). His research focuses on characterization of stem cells and blood cells in these conditions, genetic etiologies and clinical outcome. He heads the Canadian Inherited Marrow Failure Registry. Dr. Dror’s lab focuses on various signaling pathways in SDS and other inherited bone marrow failure syndromes (IBMFs), including originating from ribosomal and telomere defects. The main SDS gene (SBDS) was identified by Dr. Johanna Rommens at SickKids, and Dr. Dror later also identified DNAJC21 as the second gene associated with SDS. His lab showed that IBMFS are associated with high risk (37%) of clones/MDS/AML in childhood, and found that SDS marrows are characterized by stromal dysfunction, increased angiogenesis and abnormal leukemia-gene expression in marrow progenitor cells. Professor Marc Raaijmakers Professor of Hematology, Erasmus MC Cancer Institute, the Netherlands Prof. Dr. Marc H.G.P. Raaijmakers, MD, Ph.D. is a professor of Hematology in the Department of Hematology at the Erasmus MC Cancer Institute, Rotterdam, the Netherlands. He received his MD from the University Utrecht and completed training in Internal Medicine and Hematology at the Radboud University Hospital in Nijmegen, the Netherlands. He completed postdoctoral research at the Department of Stem Cell and Regenerative Biology at Harvard University and the Harvard Stem Cell Institute, revealing a concept of niche-induced oncogenesis in the hematopoietic system. He (co)-authored papers in leading journals including Nature, Cell, Cell Stem Cell, J. Exp. Med, Blood and Leukemia, served in the editorial boards and provided numerous invited lectures at international meetings, including the European and national societies of Hematology (U.S.A., France, Germany, Spain and Japan) as well as multiple sessions of the International Shwachman-Diamond Syndrome Congress. He chairs the expertise center on Leukemia Predisposition Syndromes at the Erasmus MC Canncer institute and the EHA scientific working group on Rare Hematological Blood Cancers. His laboratory studies micro-environmental contributions to the pathogenesis of hematopoietic disease with an emphasis on the initiation and evolution of preleukemic disorders. He published several articles on Shwachman-Diamond Syndrome and lead the efforts for the development of several SDS research models. His clinical focus is in bone marrow failure syndromes and acute myeloid leukemia. Strategy & Therapy Development Advisory Board Dr. Vanessa Merker Dr. Vanessa L. Merker, PhD Director of Research, The Family Center for NF & SWM at Massachusetts General Hospital, and Assistant Professor of Neurology, Harvard Medical School Dr. Merker is a health services researcher committed to improving healthcare delivery for people with rare diseases by leveraging information collected directly from patients and their family members. Her research is focused on improving the accessibility, quality, and patient-centeredness of care for patients with rare diseases like NF and other cancer predisposition disorders. She uses qualitative and mixed methods to understand patients’ healthcare needs and experiences; develops and analyzes patient-reported outcome measures for use in clinical trials; and she engages patients as partners in the design and conduct of her research. Joe Katakowski, PhD Director of Research at the RTW Foundation Joe Katakowski, Ph.D., is responsible for leading the development strategy and internal R&D efforts for projects within the RTW Foundation portfolio. Prior to joining RTW Foundation, Joe was a staff scientist at Regeneron where he led a team focused on preclinical development of gene therapies and AAV vector engineering. Before Regeneron, Joe was a principal scientist at Pfizer where he developed and led multiple immuno-oncology programs from early-stage discovery up to IND application, working with a diverse array of modalities including lipid/polymeric nanoparticles, PROTACs, ADCs, antibodies, and small molecules. Prior to Pfizer, Joe was a senior scientist at Innovimmune, a biotech startup. During his PhD, Joe developed unique delivery technologies for nucleic acid-based drugs, seeking to modulate immune responses for autoimmune and oncology indications. His PhD work led to two separate first author publications in Molecular Therapy, as well as additional publications throughout his research career. Joe has a BS in human biology from Michigan State University, a MS in cellular & molecular biology from Eastern Michigan University and a PhD in immunology & biomedical sciences from the Albert Einstein College of Medicine. Cathleen (Cat) Lutz, Ph.D., M.B.A. Vice President, Rare Disease Translational Center, The Jackson Laboratory Cat Lutz, Ph.D., M.B.A. is the Vice President of the Rare Disease Translational Center at The Jackson Laboratory (JAX). With 25 years of experience in mouse genetics, Dr. Lutz has focused her research efforts on patient organizations and families diagnosed with rare diseases. The JAX Rare Disease Translational Center incorporates precision mouse models and broad-based drug efficacy testing to support IND enabling studies. She serves as the Principal Investigator of multiple NIH sponsored programs including the Center for Precision Genetics, The Somatic Cell Genome Editing Center, and Mouse Mutant Research and Resource Center. As a neuroscientist by training, Dr. Lutz has worked on models of the central nervous system such as Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis and Friedreich’s Ataxia. Dr. Lutz was recently awarded a 2021 Rare Impact Award by the National Organization for Rare Disorders. Danielle Boyce, MPH, DPA Principal Investigator, Real World Evidence at ALS Therapy Development Institute. Faculty at Johns Hopkins University, with affiliations at the University of Calgary and Emory University. Danielle Boyce, MPH, DPA, has a master’s in public health with a concentration in epidemiology and a doctorate in public administration. She is a veteran biostatistician, data scientist, and informaticist with more than 25 years of professional experience including more than a decade at Johns Hopkins University. Danielle has held advisory roles for the Food and Drug Administration, the Centers for Disease Control and Prevention, the Critical Path Institute, the Patient-Centered Research Outcomes Institute (PCORI), the International League Against Epilepsy, and dozens of patient advocacy groups and communities. Her research interests include rare and neurodegenerative diseases. Danielle Boyce, MPH, DPA, is an award-winning rare disease advocate, researcher, public speaker, and writer. Her work has appeared in dozens of scientific journals and her children’s book, Charlie’s Teacher, is used in children’s hospitals throughout the country.

It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! Fundraiser October 2020 Meet The Team It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! With this fundraising campaign, we are raising funds to accelerate therapy and cure development for Shwachman-Diamond Syndrome, a rare genetic cancer predisposition disorder that affects thousands of children and adults world wide. Shwachman-Diamond Syndrome Alliance's mission is to accelerate therapy development and a cure for SDS - in particular to eliminate the deadly leukemia risk in SDS - in a time frame that matters to our children and thousands of SDS patients world wide. Our focus is research and development: we raise funds for the most cutting edge research, build collaborations globally, and invest into critical research tools and infrastructure, now. One million steps is certainly too much for any single person. But together, the steps add up. We can get there! Register above, and you will receive an email invitation to join the challenge and track your steps through Count.it.

Welcome to the SDS community. Here, you can find resources to join the community and get empowered through action. Newly Diagnosed? Welcome to the Community! You are not alone We are a global community of patients, families, physicians, and researchers, working together to give all SDS patients more birthdays to celebrate. Action cures fear An SDS diagnosis brings with it lots of emotions and uncertainty. There is no targeted therapy for SDS, yet. We are working tirelessly to change that. It takes a village and you can make a difference. Now what? There are so many opportunities for you to make a difference for your loved-one with SDS and for the community. Check out these important steps to get started. Share your experience to drive research The SDS-GPS program is the only global patient registry that collects and structures data directly from those living with SDS (and related disorders) in order to accelerate research and therapy development and connect patients with research opportunities most relevant to them. Join today . Connect with community Connect with SDS patients and families who "get it" and have your back. Check out various connection opportunities, here . Join our mailing list and follow us on social Join our mailing list Follow us on Facebook Learn about SDS Knowledge is power. Access all relevant information right here on our website. Being informed will help you be an effective partner with your healthcare team and be able to make informed decisions regarding care for yourself or your loved-one with SDS. What is SDS? The science behind SDS and the latest research advances Resources for children We developed age-appropriate educational materials for kids to learn about SDS, science, and coping skills. Kids' Corner Get your community involved in fundraising One of the most impactful ways to raise awareness and advance research is to fundraise. Check out our resources here . Or, consider a one-time or monthly donation to keep our programs going and enable us to continue making an impact and get closer to therapies and cures.

Access no-cost genetic testing and other diagnostic tools, here. Rare Genomes Project 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 partnership with the Rare Genomes Project to provide access to Whole Genome Sequencing on a research basis, to US residents. Learn more in our announcement , including the difference between whole exome sequencing (WES) and whole genome sequencing (WGS). If this program doesn't work for you, please check out our other resources or email us at connect@SDSAlliance.org . Overview We are excited to announce our new collaboration with the Rare Genome Project. It is a free and remote research program using genomic sequencing to look for the genetic cause of rare diseases, such as Shwachman- Diamond Syndrome (SDS). Eligible families will be asked to provide a blood sample and medical information. If a result is found, we will work with your doctor to confirm the result. Note: This research process takes longer than routine genetic testing and not all families will have a result identified. Eligibility Have a clinical suspicion for Shwachman-Diamond Syndrome, including 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 neutropnia, hypocellular bone marrow, bone marrow failure, or MDS/AML Skeletal dysplasia: Rib cage/thoracic abnormality, metaphyseal dysostosis, extremity abnormalities, scoliosis, or abnormal bone density Have a suspected genetic cause that has not been identified due to prior testing being negative or inconclusive OR a lack of access to genetic testing. This means that patients who have received genetic testing previously ARE eligible to participate, as long as prior testing has not yielded a diagnosis. Live in the United States 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 or apply Contact the Rare Genomes Project team directly Phone: (855) 534-4300 Email: raregenomes@broadinstitute.org Web: www.raregenomes.org Download the IRB approved flyer (English or Spanish) below!

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.

Project PACER is a program supported by PCORI to Build Capacity for Patient-Centered Comparative Effectiveness Research (CER) in Shwachman-Diamond Syndrome. Project PACER Patients & Families Researchers & HCPs Course Modules Guides Building Capacity for Patient-Centered Comparative Clinical Effectiveness Research (CER) in Shwachman-Diamond Syndrome. Read the pressrelease here Project PACER is funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (EASO-42419). Watch the Project PACER Kickoff Meeting to learn more Project PACER Opportunities for: Patients & Families Help build a comprehensive SDS education resource with YOUR voice at the center Watch Eszter's 2-minute SDS Spotlight video, introducing Project PACER , then read on to see how you can be part of it. You are the heart of Project PACER. Now it's time to help build it. We're creating the first comprehensive SDS education resource — with your priorities, your stories, and your voice at the center. Take the 5-7 Minute Survey How to Get Involved Why This Matters Informed families are powerful partners in research — and that changes outcomes for everyone with SDS. When you deeply understand SDS — the science, the research landscape, how clinical studies work — you can: Advocate more effectively with your healthcare team Help researchers design better SDS studies Make confident, informed decisions about clinical trial participation Serve on patient advisory boards Mentor and support other SDS families, including the newly diagnosed Project PACER builds that capacity across the entire SDS community — together. Our goal is clinical trials by 2030, and an informed, research-ready community is what makes that possible. What We're Creating Two core resources, built with community input from the start. Living with SDS: A Practical Guide A comprehensive manual covering every organ system — expert clinical overviews in plain language, patient and family stories, and current research updates in each chapter. Available as a full PDF, individual chapters, one-pagers, infographics, and in print. Open-access with DOI (target: 2027). An Online Course Training Built from the manual — designed to help you understand SDS deeply and participate meaningfully in research and advocacy. Delivery format shaped by your preferences. Completing the course is compensated, thanks to PCORI funding. Topics We're Covering The survey asks you to choose your top 3–5 priorities. Your input directly shapes how much depth we give each topic. ● Neutropenia & immune system ● Bone marrow failure ● Cancer risk & monitoring ● HSCT — when, how & why ● Pancreatic insufficiency ● Nutrition & growth ● Liver health ● Metabolic & diabetes risk ● Bone health & puberty ● Skeletal abnormalities ● Dental & oral health ● Cognitive development ● Attention & ADHD ● Emotional health & trauma ● Quality of life ● Fertility & family planning ● Genetic counseling ● Caregiver wellbeing ● Pediatric-to-adult transition ● Navigating healthcare ● Clinical trials ● The future of SDS treatment ● Patient-centered research ● SDS communities worldwide ● And more by request! Project PACER: For Clinicians & Researchers What You'll Be Able to Do After completing the Project PACER course, you'll be equipped to make a real difference — wherever you are. At the doctor: Speak up more clearly and confidently for yourself or your child With researchers: Help scientists design better SDS studies with your informed perspective In the community: Help and teach other SDS families — especially the newly diagnosed In clinical trials: Make decisions about participation with real confidence On advisory boards: Provide an informed patient perspective on research planning With SDS Alliance: Participate in projects and help shape what we build next How to Get Involved Choose the level of involvement that fits your life. Every role matters. * Several roles are compensated, thanks to PCORI funding. Patient Co-delevopers* Help design course content that actually prepares families for meaningful research engagement. Shape the curriculum, review materials, and guide priorities from the inside. Story Contributors Share your experience to illustrate a manual chapter. You'll tell us which topics your story speaks to, and we'll match you to the right chapter. Newly diagnosed families will benefit directly from your voice. Pilot Testers* Try the course before it launches and give feedback. Help us refine the experience so it truly works for real families. Cours Participants* Take the course when it launches. Earn a certificate that qualifies you to serve on advisory panels, advocate more effectively, and mentor others in the SDS community. The survey asks which roles interest you — you're not committing to anything yet. We'll follow up with details as we finalize next steps. Take the Survey — Your Voice Shapes What We Build The survey covers which topics matter most, what course format fits your life, what a completion certificate means to you, and how you'd use your knowledge. 5–7 minutes. Every response directly shapes what we create. Survey open through March 2026. All responses are confidential Take the 5-7 Minute Survey What the Survey Asks No surprises — here's exactly what you'll be answering. Your connection to SDS and how long you've been on this journey How you'd describe your current understanding of SDS Which topics are most important to you (pick your top 3–5 from a full list) Which participation roles interest you (co-developer, story contributor, pilot tester, or course participant) What course delivery format works best — self-paced, live, hybrid, or in-person What a course certificate would mean to you, and how you'd use what you learn How compensation affects your ability to participate in higher-effort activities Whether you'd like to join the SDS Alliance mailing list and global network What Happens Next Now – March 15, 2026: Community survey open. Take it to shape what we build. Spring–Fall 2026: Chapter writing, patient story matching, and course co-development with community contributors. Q4 2026 / Q1 2027: Manual published open-access with DOI, and online course launches — with compensation for participants. Questions? Reach out to Eszter at connect@sdsalliance.org . Help build a comprehensive SDS education resource with clinical expertise from around the world Project PACER Opportunities for: Clinicians & Researchers Help build the definitive SDS education resource Currently, there is no comprehensive, patient-centered SDS guide. We're creating one — with clinical experts from around the world. PCORI-funded Open-access publication DOI-citable chapters Free CME/CNE training Take the Professional Interest Survey How to contribute Three ways to get involved We're developing Living with Shwachman-Diamond Syndrome: A Practical Guide — a multi-chapter manual covering every organ system, each with a patient story, an expert clinical overview, and a research landscape update. Published open-access with a DOI in 2027, every chapter is a citable scholarly contribution. Expert Chapter Contributor Write one clinical overview (2,000–2,500 words, plain language) for a topic aligned with your expertise, from hematology and neutropenia to genetics, nutrition, transition to adult care, and 20+ more. What you get: Byline credit on your chapter DOI-citable publication (targeting 2027) Acknowledgment in all derivative materials Commitment: One chapter + one patient review round for clarity Clinical Reviewer Review 1–3 draft chapters for medical accuracy and currency — no writing required. Ensure the content meets clinical standards before it reaches patients and families worldwide. What you get Acknowledgment in the manual Meaningful contribution without writing commitment Early access to final chapters Commitment : Approximately 2–3 hours total Network Partner Share PACER resources with SDS patients in your care and with professional colleagues. Help the right information reach the right families at the right moment, to improve outcomes. What you get Early access to manual chapters Patient education materials for your practice Updates on PACER progress Commitment : As your time allows Why it matters for your work A stronger community benefits everyone Patient-centered funding agencies — including PCORI and NIH — increasingly require demonstrated community engagement. PACER gives researchers a concrete, documented partnership to point to in grant applications. For clinicians, an informed patient community means better research participation, more meaningful clinical conversations, and families who arrive at appointments prepared. Every chapter you contribute directly shapes that outcome. What to expect Timeline Spring 2026 — Expert recruitment & chapter assignments We'll match contributors to chapters based on expertise and interest survey responses. Spring–Fall 2026 — Writing, patient review & revisions Chapters go through an iterative review process with both clinical and patient community input. Late 2026/Early 2027 — Open-access publication & course launch Manual published with DOI; free online training for clinicians and researchers launches simultaneously. Ready to contribute? Complete our 10-minute interest survey for professionals and we'll be in touch as chapter assignments begin in Spring 2026. Questions? Email us at connect@sdsalliance.org Take the Professional Interest Survey What Project PACER has achieved so far SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. Eszter Hars, Ph.D. will lead the two-year engagement project (EASO-42419) through the SDS Alliance. Read the pressrelease here The biggest and most impactful patient voice meeting - the SDS PFDD meeting - is a key component of Project PACER. Learn all about the SDS PFDD Meeting Patient Posters As a conversation starter and to give patients and families an opportunity to share their experiences in a new, impactful way, we created a series of large posters (pop-up banners) that were displayed at the Project PACER kick-off meeting, the EL-PFDD meeting, and the International Scientific Congress in Cincinnati, OH, on June 4th, 2025. The banners are portable, and we are planning to display them at additional meetings as opportunities arise. Digital copies are available to view right here. To create these posters, patients and families were asked to fill out a simple form with all the information needed and upload photos they wanted to share. As part of Project PACER, we invited feedback about the posters, from both the patient community and other stakeholders. The feedback was overwhelmingly positive.

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

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