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

Shwachman-Diamond Syndrome event from around the globe! SDS Community and Scientific Events Calendar March 2026 Today Sun Mon Tue Wed Thu Fri Sat 1 2 3 4 5 6 7 8 3:00 PM Global SDS Family Coffee Chat 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 1 2 3 4 5 6 7 8 9 10 11 Upcoming Events Multiple Dates Global SDS Family Coffee Chat Mar 08, 2026, 3:00 PM – 5:00 PM Virtual event Monthly virtual get-together to build community and support. Share Register Now SDS PFDD Meeting (Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome) Jun 04, 2025, 10:00 AM – 3:30 PM Location is TBD The SDS PFDD meeting is a very special and unique opportunity for patients and families to come together and share our voices and stories with the purpose of accelerating research and improving care. The meeting is part of our "100 Voices to #CureSDS" campaign. Don't miss it! Share Details Community Webinar/Q&A about the SDS PFDD meeting planned for this summer Jan 23, 2025, 4:00 PM – 5:00 PM Zoom Share Details SDS POPS 2024: Patient AdvOcacy and Partnering Summit Oct 20, 2024, 1:00 PM – 5:00 PM https://www.sdsalliance.org/sds-pops The only 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. Share Details Ask an Expert: Dr. Lisa McReynolds on Clones, Germline, and Somatic Mutations, and why they matter for SDS May 19, 2024, 2:00 PM – 3:00 PM EDT Virtual. Register at sdsalliance.org/cce Share Details SickKids 8th National Marrow Failure & Myelodysplasia (MFM) Patient and Family Virtual Conference Apr 13, 2024, 1:00 PM – 7:00 PM EDT free virtual event This meeting is for patients and families with bone marrow failure disorders and myelodysplastic syndrome, physicians, other health-care workers, fellows, residents and all others who are interested in the field. Children and adult patients are welcome. Share Details POPS: Global Patient Advocacy and Partnering Summit May 20, 2023, 10:00 AM – 3:00 PM EDT Virtual event The first global, virtual, meeting of its kind to provide patients, caregivers, scientist, physicians, and all other stakeholders access to the latest information on all things Shwachman-Diamond Syndrome. Share Details 10th International Congress on Shwachman-Diamond Syndrome Apr 18, 2023, 9:00 AM EDT – Apr 21, 2023, 1:00 PM EDT Robinson College, Cambridge, UK, Grange Rd, Cambridge CB3 9AN, UK This Congress is held every other year in different locations throughout Europe and North America. It is the only scientific congress dedicated to Shwachman-Diamond Syndrome. Due to the global Covid-19 pandemic, the event was postponed several times. Now scheduled for April 18-21, 2023! Share Details 4e journées des neutropénies (4th French National Neutropenia Days) Mar 24, 2023, 9:00 AM – 4:00 PM GMT+1 Paris, Paris, France Nous vous invitons aux 4e journées des neutropénies qui se tiendront les vendredi 24 et samedi 25 mars prochain. Share Details SickKids Canada - National MFM Virtual Patient and Family Conference Apr 30, 2022, 12:00 PM – 6:00 PM EDT Virtual The National Marrow Failure & Myelodysplasia program at SickKids Canada is pleased to invite you to this interactive meeting. It is an ideal opportunity to learn, network with other families and meet experts in the field. Share Details Fun-Run-Walk October 2020 Oct 24, 2020, 7:00 AM EDT – Nov 01, 2020, 11:00 PM EST Virtual run/walk, location of your choice It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! www.SDSAlliance.org/steps Share Details Postponed. New Date TBD. SDSF Family Conference at Camp Sunshine (ME, USA) Jul 12, 2020, 2:00 PM EDT – Jul 16, 2020, 10:00 AM EDT Camp Sunshine, Cosco, ME, USA, Cosco, ME SDSF (SDS Foundation) hosts a 6-day session at Camp Sunshine every other summer for SDS families to meet with each other and meet and learn from the top SDS experts in North America. Share Details Paint with us! Rare Disease Day Fundraiser for SDS, Metro Boston Feb 29, 2020, 2:00 PM – 5:00 PM EST Painting with a Twist, North Andover, MA, 10 High St, North Andover, MA 01845, USA SDS Alliance partnered with Painting with a Twist in North Andover to host a painting event as a fundraiser. Share Details SDS Registry Family Day in Boston, MA, US Sep 15, 2019, 8:00 AM – 4:00 PM EDT Boston, MA, Harvard Medical School Joseph B Martin Center 77 Avenue Louis Pasteur NRB 133 Boston, MA 02155 Celebrating the SDS Registry's 10th anniversary! Please join us for a complimentary day of education, connection, and fun! - Hear updates from the SDS Registry - Learn about exciting research - Discover cutting-edge clinical trials for SDS - Connect with other SDS families Share Details Past Events Multiple Dates Global SDS Family Coffee Chat Mar 08, 2026, 3:00 PM – 5:00 PM Virtual event Monthly virtual get-together to build community and support. Share Register Now SDS PFDD Meeting (Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome) Jun 04, 2025, 10:00 AM – 3:30 PM Location is TBD The SDS PFDD meeting is a very special and unique opportunity for patients and families to come together and share our voices and stories with the purpose of accelerating research and improving care. The meeting is part of our "100 Voices to #CureSDS" campaign. Don't miss it! Share Details Community Webinar/Q&A about the SDS PFDD meeting planned for this summer Jan 23, 2025, 4:00 PM – 5:00 PM Zoom Share Details SDS POPS 2024: Patient AdvOcacy and Partnering Summit Oct 20, 2024, 1:00 PM – 5:00 PM https://www.sdsalliance.org/sds-pops The only 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. Share Details Ask an Expert: Dr. Lisa McReynolds on Clones, Germline, and Somatic Mutations, and why they matter for SDS May 19, 2024, 2:00 PM – 3:00 PM EDT Virtual. Register at sdsalliance.org/cce Share Details SickKids 8th National Marrow Failure & Myelodysplasia (MFM) Patient and Family Virtual Conference Apr 13, 2024, 1:00 PM – 7:00 PM EDT free virtual event This meeting is for patients and families with bone marrow failure disorders and myelodysplastic syndrome, physicians, other health-care workers, fellows, residents and all others who are interested in the field. Children and adult patients are welcome. Share Details POPS: Global Patient Advocacy and Partnering Summit May 20, 2023, 10:00 AM – 3:00 PM EDT Virtual event The first global, virtual, meeting of its kind to provide patients, caregivers, scientist, physicians, and all other stakeholders access to the latest information on all things Shwachman-Diamond Syndrome. Share Details 10th International Congress on Shwachman-Diamond Syndrome Apr 18, 2023, 9:00 AM EDT – Apr 21, 2023, 1:00 PM EDT Robinson College, Cambridge, UK, Grange Rd, Cambridge CB3 9AN, UK This Congress is held every other year in different locations throughout Europe and North America. It is the only scientific congress dedicated to Shwachman-Diamond Syndrome. Due to the global Covid-19 pandemic, the event was postponed several times. Now scheduled for April 18-21, 2023! Share Details 4e journées des neutropénies (4th French National Neutropenia Days) Mar 24, 2023, 9:00 AM – 4:00 PM GMT+1 Paris, Paris, France Nous vous invitons aux 4e journées des neutropénies qui se tiendront les vendredi 24 et samedi 25 mars prochain. Share Details SickKids Canada - National MFM Virtual Patient and Family Conference Apr 30, 2022, 12:00 PM – 6:00 PM EDT Virtual The National Marrow Failure & Myelodysplasia program at SickKids Canada is pleased to invite you to this interactive meeting. It is an ideal opportunity to learn, network with other families and meet experts in the field. Share Details Fun-Run-Walk October 2020 Oct 24, 2020, 7:00 AM EDT – Nov 01, 2020, 11:00 PM EST Virtual run/walk, location of your choice It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! www.SDSAlliance.org/steps Share Details Postponed. New Date TBD. SDSF Family Conference at Camp Sunshine (ME, USA) Jul 12, 2020, 2:00 PM EDT – Jul 16, 2020, 10:00 AM EDT Camp Sunshine, Cosco, ME, USA, Cosco, ME SDSF (SDS Foundation) hosts a 6-day session at Camp Sunshine every other summer for SDS families to meet with each other and meet and learn from the top SDS experts in North America. Share Details Paint with us! Rare Disease Day Fundraiser for SDS, Metro Boston Feb 29, 2020, 2:00 PM – 5:00 PM EST Painting with a Twist, North Andover, MA, 10 High St, North Andover, MA 01845, USA SDS Alliance partnered with Painting with a Twist in North Andover to host a painting event as a fundraiser. Share Details SDS Registry Family Day in Boston, MA, US Sep 15, 2019, 8:00 AM – 4:00 PM EDT Boston, MA, Harvard Medical School Joseph B Martin Center 77 Avenue Louis Pasteur NRB 133 Boston, MA 02155 Celebrating the SDS Registry's 10th anniversary! Please join us for a complimentary day of education, connection, and fun! - Hear updates from the SDS Registry - Learn about exciting research - Discover cutting-edge clinical trials for SDS - Connect with other SDS families Share Details

An overview of a wide range of research opportunities for Shwachman-Diamond Syndrome focused on advancing the knowledge of the lived experience with SDS and therapy development for Shwachman Diamond Syndrome. Opportunities to P articipate in Research & Clinical Trials Registries and Natural History Studies are critical for progress in clinical care and therapy development. We encourage all patients & families to participate in all registries available to them! See all SDS registries! SDS Alliance has been actively pursuing efforts to implement platforms and strategies to unite the existing registries and/or form collaborations collect and build a large, powerful set of genomic data to drive research add patient voices through a new, patient-driven, global patient survey and collaboration platform (data hub), and make all data more widely available to the larger research and transnational community. We are excited to announce that the program has come to live and is open for enrollment! SDS-GPS: a unique patient-powered global program Learn more about SDS-GPS All Regsitries SDS Patient LENS Study The SDS Alliance is launching an interview-based qualitative research study to learn about and document the L ived E xperiences, N eeds, and S tories of the Shwachman-Diamond Syndrome patient and caregiver community. The results of the study will help inform the focus areas of the EL-PFDD meeting with the FDA, the resulting Voice-of-the-patient report, and our research and programs priorities for years to come. Learn more about LENS

Our philosophy, commitment, and financial reports are posted here. Finances Finances Shwachman-Diamond Syndrome Alliance is a US-based nonprofit 501(3)c corporation, serving the global SDS community. Our EIN and IRS determination letter is available, here . 100% of your donation goes into an account dedicated solely to research and therapy development. We pride ourselves on maximizing the impact on SDS patients' and families' lives through running a professional, sustainable, and efficient nonprofit research organization with dedicated, passionate staff. All our operation expenses, including staff compensations, are covered by a separate account with funding from sources such as grants and private dedicated donors. Every single penny of YOUR donation — community donations and fundraisers — goes specifically towards SDS research and therapy development. Our SDS research and therapy development programs may be run in-house, by partnering with research institutions, or by engaging service providers (such as CROs), depending on which route is most efficient. The goal is always to move toward a bright future for SDS patients and their families, following our strategy and roadmap . Our leadership team works highly strategically to ensure that your donation leads to a much bigger impact — bigger than the amount of the donation itself can fund. How do we do that? We use your donation to create preliminary results, critical research tools, and infrastructure, and use them to (1) enable more research and to accelerate them, and (2) to get much bigger grants, from the governmental funding agencies, private foundations, or industry sposors. This strategy continues to supercharge our progress. Further, our leadership team has the expertise to attract world-class partners to put up their own funding for our project — the mouse model project with The Jackson Laboratory being a prime example. Documents IRS Form 990 FY 2023 Form 990 Filing FY 2022 Form 990 Filing FY 2021 Form 990 Filing FY 2020 Form 990-N Other Documents US State Registration Disclosures

A comprehensive resource for SDS Patients and Families to learn all about Shwachman-Diamond Syndrome, science, research, drug development, and more, in a variety of formats to facilitate learning. Knowledge is power. The Science Behind SDS SDS Science Spotlight Series 10-minute videos on key concepts in SDS and research SDS Science Spotlight: The Genetics of Shwachan-Diamond Syndrome (SDS) This spotlight video on the genetics of SDS summarizes all the basics you need to know about the genetics and inheritance of Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: Clones and Clonal Hematopoiesis in Shwachan-Diamond Syndrome (SDS). This spotlight video on clones in SDS introduces the concept of clonal hematopoiesis, as relevant to Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: What are Ribosomes and what is their Role in Shwachan-Diamond Syndrome (SDS)? This spotlight video on Ribosomes and SDS explains what Ribosomes are and how they relate to Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: What are Humanized Mouse Models and why are they important for Shwachan-Diamond Syndrome (SDS) therapy development? This spotlight video on Humanized Mouse Models for SDS explains what mouse models are, what new models are needed, and insights into the SDS Alliance and The Jackson Laboratory collaboration to move Shwachman-Diamond Syndrome therapy development. Register Ask an Expert - Community Chat Online Monthy Webi nar Series Posted recordings Ask an Expert: Dr. Valentino Bezzerri on Ataluren and Progress in Shwachan-Diamond Syndrome (SDS) This video on Ataluren and SDS explains how this nonsense suppressor drug works and the status of research as it relates to Shwachman-Diamond Syndrome. Ask an Expert: Dr. Lisa McReynolds on Clones, Germline and Somatic Mutations, and why they matter for Shwachan-Diamond Syndrome (SDS) This video on Clones and Somatic Mutations in SDS explains the concept of clonal hematopoiesis and why it is so important in Shwachman-Diamond Syndrome. Ask an Expert: Dr. Jean Donadieu on the New French National Protocol for Shwachan-Diamond Syndrome (SDS) This video on the new French national protocol for SDS explains what it is, how it came to be, and its benefits to the care of Shwachman-Diamond Syndrome patients. SDS & Science Snapshot The blog to keep you in the loop about the latest developments 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. Understanding Your Genetic Testing Report: Key Elements for the Shwachman-Diamond Syndrome (SDS) Community and Why it Matters Learn why a genetic diagnosis is essential for confirming Shwachman-Diamond Syndrome (SDS). Understand your test report, SBDS gene results, and how to join SDS-GPS. 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, 1 2 3 4 5 From around the web: Science & Medicine for Kids and Adults Insightful resources about the basics, relevant to SDS and research Also check out our Kids' Corner for additional resources for children! Genes and Inheritance Genetic Testing (Applications and Techniques) Cell and Gene Therapy and CRISPR The American Society of Gene & Cell Therapy has some fantastic resources to help patients understand what cell and gene therapy is. Check out their recourses (videos, graphics, etc) on the Gene Therapy 101 page. The Immune System Cell Biology and Ribosomes Blood, MDS, and Blood Cancer / Leukemia Bone Marrow / Haematopoetic Stem Cell Transplant Neutropenia (Impact) Neutrophils (Science) Pancreas and Digestion Therapy Development process

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

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

Patient stories - from the Shwachman-Diamond Syndrome community, for the Shwachman-Diamond Syndrome community Patient Stories Stories connect. This page is dedicated to our global community of patients and families who are all impacted by SDS in various ways. No matter whether your SDS is "mild or severe", your story matters! We want to paint a picture of what SDS looks like and how varied the experiences are -- so that more patients can be diagnosed sooner and benefit from community support and better treatments. We also want to show the world that the SDS community is strong and worthy of investment into new therapies and cures. Join us by sharing YOUR story. Contact the SDS Alliance on Facebook or email us at connect@SDSAlliance.org and fill out this release form . We are publishing patient stories on the SDS Alliance blog, Facebook page, Twitter, and more. You can make it as personal as you like with names, photos, and more, or keep it more private to fit your preference. We will help with editing and layout. We will work with you. 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. Octavian's SDS Story 2: A Rare Gem with EFL1, Year Two One year has passed since we have shared with you all our first year as a family of 4. In our first chapter we have discussed about our journey from noticing that something might be wrong with our Octavian and the long and intense journey of getting the right diagnosis, finding the right medical center and medical team to provide Octavian the care he needs and concluded with a strong statement of acceptance and a promise to live life the fullest despite SDS. 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. 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 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, 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-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 Octavian's SDS Story: A Rare Gem with EFL1 "We have reached the stage of acceptance and trying to live life the fullest despite SDS" Shares Octavian's dad, Raul. Read this Romanian... Alex's SDS Story and Diagnostic Odyssey (US) "My journey as a mother of a child with a rare disease began when I had my 20-week ultrasound while pregnant with my son Alex", shares... 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 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... 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... Ángel Leonardo's SDS Story from Mexico [Spanish and English] "My parents taught me that apart from receiving help, I must also help. I have a big heart and I am a teacher of life for my family, a... A Blast from the Past: Cresta's SDS Story from the US "I look forward to many more years and to support research to aid SDS patients in the fight against leukemia and Myelodysplastic... Mike's SDS Story from The Netherlands [Dutch and English] "I hope to be able to support and help people where necessary with my story." Shares Mike's mom Irma. Read this Dutch family's story,... Nora's SDS Story with a Twist: Our Quest for a Cure "I needed to push for what I thought my daughter needed. I was her voice." Shares Nora's mom Lisa. Read this US family's story, here. If... 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... 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... Betty's SDS Story and Journey through Bone Marrow Transplant "The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive." Shares Betty's mom... Whitner's SDS Story and Journey to Bone Marrow Transplant "My journey to diagnosis has been nothing short of an adventure, filled with many obstacles, hundreds of specialists, and much... Kim and Harrison's SDS Story from the UK "My son has taught me so much and through him I have grown as a person in stature, confidence and emotional stability. I have seen the... Ryker's SDS Story and Journey to Bone Marrow Transplant "Ryker has been such a strong little man throughout these past couple of years with going through so many tests, procedures and doctor... Healing Henley. An SDS Story told by Henley's mom, Jess Picture and story about Jess and daughter Henley (who suffers from Shwachman-Diamond Syndrome), preparing for bone marrow transplant. Carter and Skye's Story: A short video for Maddie Riewordt's Vision Carter and his sister Skye both have Shwachman-Diamond Syndrome (SDS) and went through stem cell transplants, recently. Gracie van Brunt – singer, songwriter, and rare disease advocate – shares her story in a podcast. Gracie van Brunt – singer, songwriter, and rare disease advocate – shares her story in a podcast. Max's Story: A short insight as part of the 2020 Jeans for Genes Max and his family are raising awareness for Shwachman-Diamond Syndrome and rare disease by participating again in the 2020 Jeans for Genes Gracie's Story: Finding my voice and insights into my BMT Gracie - a young adult SDS patient in the US, shares her story about finding her voice and her bone marrow transplant. About a mother's relentless quest for a cure for SDS By Emily Williams / Boston Children's Hospital In this post, you can learn about the passion and efforts of a mother to a young daughter... Teen author dedicates a children’s book to her twin brother with Shwachman-Diamond syndrome Boston Children's Hospital's Patient Stories section features an SDS family's story. Read the whole story, here. Sophia Namazy, 14, wrote... How families are reshaping Shwachman-Diamond syndrome research By Emily Williams / Boston Children's Hospital In this post, you can learn about the experiences of two families affected by... Share with us your SDS journey. It is a wonderful resources for new families and old friends alike. We can help you write if you like. Simply contact us at CureSDS@gmail.com. Welcome to your blog post. Use this space to connect with your... Do you have an SDS story to tell? Would you like to share your SDS journey with the SDS community? Let us help you create a blog post. Email us today at CureSDS@gmail.com. Welcome to your blog post. Use this space to connect with your... After Amazon mix-up, man becomes advocate for little boy with Shwachman-Diamond Syndrome In 2018, a wonderful friendship unfolded as a result of a mishap. Now the SDS family got an extra super advocate as a result. Read the... A mom from NZ explains how her rock ‘n roll lifestyle was turned upside down by SDS. Written for The Spinoff magazine (NZ) / By Kiki Van Newtown In this story, you can learn about this Rock 'n Roll family's journey with...

Shwachman-Diamond Syndrome - the most current, up-to-date, peer-reviewed diagnostic and treatment guidelines, for doctors and other health care providers. Publications and Diagnostic & Treatment Guidelines Key Publications Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Dror Y, Donadieu J, Koglmeier J, et al. Ann N Y Acad Sci. 2011 ;1242:40–55. doi:10.1111/j.1749-6632.2011.06349.x The purpose of this document is to provide guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management arepresented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based onthe consensus of experienced clinicians from Canada, Europe, and the United States. Shwachman-Diamond Syndrome Adam Nelson, MBBS and Kasiani Myers, MD. https://www.ncbi.nlm.nih.gov/books/NBK1756/ GeneReviews [ http://www.genereviews.org ], an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online. © 1993-2020 University of Washington Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances. Reilly CR, Shimamura A. Blood. 2023 Mar 30;141(13):1513-1523. doi: 10.1182/blood.2022017739. PMID: 36542827 Free article. [in French] Protocole National de Diagnostic et de Soins Maladie de Shwachman Diamond Mars 2023 Coordination : Centre de référence Maladies Rares : Neutropénies Chroniques Aurelia Alimi & Jean Donadieu Available at https://www.has-sante.fr/upload/docs/application/pdf/2023-04/pnds_sds_complet.pdf Free document Additional resources for physicians and researchers Up-To-Date: Shwachman-Diamond Syndrome Cancer Therapy Advisor: Shwachman-Diamond Syndrome We regret to inform you that the QUOSA's copyright-compliant platform we used will be retired in Q3 2023. While we are transitioning to a new tool, please email us at Library@SDSAlliance.org if you need assistance accessing any SDS related publications.

FREE downloadables to share awareness and knowledge about Shwachman-Diamond Syndrome! Media Kits & Downloads Rare Disease Day (Last Day of February) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post . Childhood Cancer Awareness Month (September) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post . Load More Global SDS Awareness Day and Action Week (November) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post .

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

A community resource for patients and experts in Japan for Shwachman-Diamond Syndrome (SDS). Fundraiser October 2020 SDS Community in Japan 日本のSDSコミュニティ Resources for families and professionals 家族や専門家向けのリソース 2025 年度 SDS 交流会2 暑さ厳しい季節ですが、皆様いかがお過ごしでしょうか。 4 月に初めてのシュワッハマン・ダイアモンド症候群(SDS)交流会を開催したところです が、渡邉先生・Eszter 先生のご厚意で 2 回目の交流会を開催する運びとなりました。 今回は、6 月にアメリカで行われました SDS の学会・交流会(International Congress on SDS)について渡邉先生からご報告をいただきます。また、Eszter 先生か らは、アメリカなどでの患者家族と医療スタッフとの交流の仕方についてお話いただく予定です。 お忙しい中とは存じますが、貴重な機会ですので皆様ぜひご参加いただければ嬉しいです。 日時:9 月 20 日(土) AM10:00-11:00 講師: 渡邉健一郎先生(静岡県立こども病院 血液腫瘍科 科長) Eszter Hars, Ph. D.(Shwachman-Diamond Syndrome Alliance 創設者兼 CEO) 参加者:SDS の当事者の方、ご家族の方、関係者の皆様 Zoom にて行います。参加は無料です。 お申込み ミーティング登録 - Zoom (https://zoom.us/meeting/register/-x00wKM4Rg-X-2RLQ1gXvQ ) ↑こちらにご登録ください。 Community in Japan | Shwachman-Diamond Syndrome Alliance (http://www.sdsalliance.org/japan) ↑もしくは、上記サイトの申し込みフォームから登録をお願いいたします。 締め切り:9/18(木)まで お問合せ japan@sdsalliance.org (担当:sanaki) 当事者家族のため、プライバシーの観点からニックネーム記載としております。個別のお問合せには本名 でお返事いたしますので、ご了承ください。 お申込み Join us for the first community webinar シュワッハマン・ダイヤモンド症候群（SDS） April 26, 10 AM (Zoom) 4月26日（土）AM10:00-11:00 シュワッハマン・ダイヤモンド症候群（SDS） 相談会・お話会 専門家のお二方を交え、普段気になっている治療のこと、生活のことなど、一緒にお話 この会を、日本のSDSの当事者の方・ご家族の方同士が繋がるきっかけにしたいと思っしてみませんか？ ています。 ぜひお気軽にご参加ください！ ウェビナーの講演者: 静岡県立こども病院　血液腫瘍科　科長 渡邉　健一郎先生 Shwachman-Diamond Syndrome Alliance創設者　兼　CEO Eszter Hars, Ph. D. お問い合わせアドレス: japan@sdsalliance.org 担当:Sanaki* * 当事家者族のため、プライバのシ面かーらニックネ ムの記載としておりますが、個別のお問い合わせには本名でお返事いたします。ご了承ください。 お申込み SDS Patient and Family Stories in Japan 日本のSDS患者と家族の物語 sanakiさん の物語 お子さんが生後10か月の頃にシュワッハマン・ダイアモンド症候群と診断。現在1歳8か月。 sanakiさんご自身は会社員として育休を取得中。 就園のハードルの高さ、同じ疾患を持つ方とつながることの難しさを感じている。 Sanaki のストーリーを読む Sanaki へのメール What is SDS? This information is currently available in English, but we plan to translate it to Japanese for your convenience soon. What other information would you like to access in Japanese? Please let Sanaki know at japan@sdsalliance.org . What is SDS? What is the SDS Alliance? Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a US-based 501(c)(3) nonprofit organization serving the global SDS community to improve and save the lives of people affected by SDS by focusing on research and therapy development. Roadmap Who is part of the SDS Alliance community? Patients and their families from around the world! From every continent and region. We are very happy to welcome families from Japan, too. Doctors and other healthcare providers Researchers at academic and medical institutions, biotech and pharmaceutical companies who are interested in developing treatments for us And many other stakeholders , such as testing providers, regulators, and more. Our Team