Shwachman-Diamond Syndrome Alliance 2025 Impact Report: advancing patient-centered research, regulatory engagement, and therapy development for SDS. Impact Report 2025 Advancing Treatments for Shwachman-Diamond Syndrome Since its founding in 2020, the SDS Alliance has focused on a single goal: accelerating the development of therapies for people living with Shwachman-Diamond Syndrome (SDS)—so families can look forward to more birthdays to celebrate. This impact report reflects what your support has made possible: not only progress in research and regulatory readiness, but a growing, coordinated effort to ensure that future therapies are shaped by what truly matters to patients and families. Impact at a Glance FDA-facing PFDD meeting delivered In June 2025, we hosted a once-in-a-lifetime meeting for patient voices to be heard by the FDA, regulators, researchers, and doctors to focus on what matters. A comprehensive Voice of the patient report will be filed with the FDA in 2026. First SDS film documentary premiered We created a beautiful documentary film titled "Until There's a Cure" that serves to connect and impact regulators, researchers, and everyone else who can make a difference in SDS patient's lives. New Research Tools Shared Globally Research tools (cell lines, iPSCs, mouse models*) developed & shared with academia and industry worldwide. The mouse model is undergoing refinement and update are expected in 2026. 650+ patients visible via new ICD-10 code The new US ICD-10 code D61.02 for SDS went into effect in 2023, making SDS journey visible in over 650 patients in the health records. Peer-reviewed article on SDS advocacy In a first for the SDS patient community, we published an article in a peer reviewed journal on patient advocacy for research and therapy development, titled: From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. First patient via newborn screening pilot Because classic biochemical based newborn screening is not available for most rare disorder, we have advocated for SDS to be included on genomic based newborn screening pilot studies, such as project GUARDIAN and Genomics England. Recently, a pilot study in Belgium identified the first SDS patient through newborn screening, before symptoms could have led to a diagnosis. 70+ patients in 15+ countries joined SDS-GPS SDS-GPS is our Global Patient Survey Program to capture SDS patients and caregiver's experiences for research. It is IRB approved, fully consented, and meets strict regulatory guidelines. 115+ views of virtual conference SDS POPS Our annual virtual conference is making SDS research and information accessible to all. Not just the latest research, but the context, making the community clinical trial and research ready. FREE genetic testing options and resources People with SDS can only receive adequate treatment and options to participate in research with accurate diagnosis. We developed a resources to help EVRYONE who needs it access genetic testing for SDS for free. Behind each of these numbers is something harder to measure: momentum —the kind that moves a rare disease field from fragmentation toward real therapeutic opportunity. Why This Work Matters for SDS Shwachman-Diamond Syndrome is a rare, inherited bone marrow failure disorder that affects multiple systems in the body. Most critically, it carries a high lifetime risk of developing MDS and leukemia, which is often difficult to treat in SDS patients due to treatment-related toxicity and complications. That is why the SDS Alliance was created. For decades, families have lived with uncertainty: Will leukemia develop? Will treatments work? Will meaningful therapies arrive in time? This is what keeps our leadership - SDS parents themselves - up at night. Despite advances in genetics and precision medicine, there are currently no disease-modifying therapies approved specifically for SDS. Progress has been slow, not because the science lacks promise, but because rare diseases like SDS require coordination , infrastructure , and patient-centered strategy to move discoveries from the lab into the clinic. What Your Support Makes Possible All of our work is geared toward enabling and accelerating therapy development for Shwachman-Diamond Syndrome to improve and save the lives of people living with SDS. Our next big bold goal: Clinical Trials by 2030. We invest in three categories of work: Building and Sharing Research Tools Mouse models Cells and iPSCs Organoids and chips Biobanks Data and surveys Data sharing platforms Biomarkers and Endpoints Infrastructure Toward Clinical Trials FDA-facing EL-PFDD meeting Voice of the Patient report Clinical Trial Matching Patient education Genetic testing (diagnostic, prognostic, newborn screening, prenatal screening) Strategic Investment in Research Landscape and pipeline analysis Partnerships with vendors, industry, and academia Catalyst funding Rigorous research agreement to enable partnership Because of the foundational tools and infrastructure built over the past five years, the SDS Alliance is now positioned to strategically invest in translational research—including gene-based and precision therapies—with clear milestones, accountability, and patient benefit at the center. Read on for select highlights. Building and Sharing Research Tools Globally Research and Regulatory Infrastructure Advancements SDS Global Patient Survey and Collaboration Program: SDS-GPS The SDS Alliance expanded SDS-GPS, a global, IRB-approved patient-reported data platform designed to capture lived experience across the lifespan. Key features include: Patient-owned data with informed consent Validated, standardized surveys Available in multiple languages (English, Spanish, French, German, Italian) Accessible worldwide To date, 70+ patients from more than 15 countries have enrolled— creating one of the most comprehensive patient-reported datasets in SDS. This data enables: Identification of meaningful outcomes and patient priorities Better clinical trial design More accurate representation of the full SDS experience Click to join SDS-GPS or learn more 75+ Patients 25+ adults living with SDS self enrolled; 50+ children enrolled by parents 15 Countries Participants can join from anywhere in the world and represent all major regions 5 Languages Platform, consent forms, and surveys in English, Spanish, French, German, Italian We shared a poster on SDS-GPS at the International Scientific Congress on Shwachman-Diamond Syndrome in Cincinnati, OH, June 2025 -- and are now in active discussions with several researchers around the globe to build new collaborations to grow theimpact of the patient voice. Mouse Mouse Models: New Momentum We are pushing full steam ahead on two complementary SDS mouse models. The first is a project in collaboration with the Jackson Laboratory that seeks to "humanize" the mouse genome by introducing the human SBDS sequence and the most common SDS mutation (the "splice site mutation"). This project got off to a great start in 2021, with the genetic engineering completed in 2022. However, the biology didn't perform as hoped, as mice are not human, after all: the mice with the human SBDS mutant gene turned out to be non-viable. Based on this learning, we explored multiple strategies to overcome the lethality. We learned a lot, but it didn't result in viable mice. We shared these results at the International SDS Scientific Congress in Cincinnati in 2025, seeking feedback. Earlier this year, we partnered with new experts from industry to provide fresh ideas, which are currently being tested by the Jackson team. Results are expected in 2026. The second project applies a groundbreaking new technique called iHSC engraftment, a collaboration with The Murdoch Children's Research Institute in Australia. Patient blood cells are reprogrammed into iPSCs, expanded, and then reprogrammed into engraftable iHSCs (induced Hematopoietic Stem Cells). These cells are then engrafted into immunodeficient mice, similar to how transplants are performed in human patients. The results are mice with humanized bone marrow. If the cells come from an SDS patient, then the bone marrow would genetically reflect SDS. Watch the presentation at SDS POS ICD First ever ICD-10 Code for SDS (D61.02) The successful establishment of a U.S. ICD-10 code for SDS in 2023 made patient journeys visible within electronic health records for the first time—unlocking real-world data for over 650 patients in the first 18 months alone. This tool, while technical, is essential for: Health system research Outcomes analysis Future clinical trial planning Learn more about ICD-10 here Infrastructure Toward Clinical Trials Turning Patient Voices Into Progress Families affected by SDS are already carrying an extraordinary burden. They cannot—and should not—be expected to fund cures from start to finish or drive research strategy on their own. What families can do is make their voices heard, participate in research and research planning, and show that the community is ready for therapy development and working toward a cure. The SDS Alliance’s role is to translate that engagement into accelerated progress: Turning lived experience into structured data Turning data into research priorities Turning priorities into progress : partnerships, funding, and R&D programs Community support goes far beyond dollars. It demonstrates readiness. It builds trust. It unlocks collaboration. Elevating the Patient Voice in Regulatory and Research Decisions Therapies cannot move forward unless regulators, researchers, and developers understand what it is truly like to live with SDS—and what outcomes matter most to patients and families. Patient-Focused Drug Development (PFDD) Meeting to Bring the SDS Patient Voice the FDA In June 2025, the SDS Alliance convened an FDA-recognized Patient-Focused Drug Development (PFDD) meeting, bringing together patients, caregivers, clinicians, researchers, and regulators. Patients and families spoke about: Daily challenges of living with SDS, such as fatigue, pain, mobility, and digestive issues The emotional and physical toll of ongoing leukemia surveillance The profound fear associated with leukemia risk—and the importance of reducing that risk, even if other symptoms remain unchanged Following the meeting, FDA staff reflected on what they heard, affirming that reducing the risk of leukemia alone could represent a meaningful benefit for the SDS community. That recognition directly informs how future therapies may be evaluated. The full 5-hour PFDD meeting recording remains publicly available and continues to serve as a reference for patients, caregivers, researchers, and regulators who were unable to attend live. To date, the recording has garnered: 150+ unique viewers recording has been viewed by more than 150 unique individuals 275+ hours watched generating over 275 hours (11+ days) of cumulative viewing time perpetual resource serves as a reference for patients, caregivers, researchers, and regulators The PFDD meeting and resulting Voice of the Patient Report (coming soon) now serve as formal, citable resources to support drug development and regulatory review. Watch the PFDD recording and learn more Capturing and Sharing Lived Experience Through Film To further elevate patient voices, the SDS Alliance produced a deeply moving 30-minute documentary film, shining a light on four SDS families: Until There’s a Cure . Created to complement the PFDD meeting, the film ensures that voices unable to be speak—including patients who passed from SDS complications and individuals unable to communicate verbally—are still heard. The film: Humanizes the science Helps regulators understand what is at stake Motivates researchers and partners to engage Inspires action, not just awareness Now published as a standalone resource, the film continues to serve as a powerful tool for education, advocacy, and collaboration. Watch the film for FREE Closing the Information Gap Between Patients and Therapy Development Providing Patients and Families with the Insights into Research and Progress they Deserve For many years, individuals and families affected by Shwachman-Diamond syndrome (SDS) had limited access to timely, reliable information about research and therapy development—including discovery and pre-clinical (early stage) research. We are closing this gap by ensuring that patients and caregivers have access not only to the latest research updates, but also to the context needed to understand and engage with therapy development. Through initiatives such as SDS POPS —our annual virtual conference now in its third year— we share where projects sit in the clinical trial and drug development pipeline; what steps are required to advance research toward an Investigational New Drug (IND) application; how regulatory pathways work; and what timelines and uncertainties to anticipate. We also highlight alternative and complementary pathways that may be necessary to move promising therapies forward. POPS 5+ Hours of highly engaging and relevant content 10 Experts in SDS research and therapy development 115+ Views easily accessible on YouTube + translations By increasing transparency and shared understanding, SDS Alliance supports clinical trial readiness and helps patients and families participate as informed, essential partners throughout the research lifecycle—not only as trial participants, but as contributors to research prioritization, endpoint selection, and regulatory dialogue. This approach strengthens collaboration across the patient, academic, industry, and regulatory communities, with the goal of accelerating safe and meaningful therapies for people living with SDS. Catch up on SDS POPS 2025 See Agenda and Learn More Strategic Investment in Research Looking Ahead: From Readiness to Therapies With foundational infrastructure in place, the SDS Alliance is focused on what comes next: Advancing biomarkers and endpoints that support leukemia risk reduction Supporting IND-enabling work for promising therapeutic programs Strengthening global collaboration across academia, industry, and regulators Our shared goal remains clear: enable clinical trials for SDS by 2030—not as an endpoint, but as a gateway to lasting progress. Funding Strategy: Strategic Investment With foundational infrastructure in place, the SDS Alliance is focused on what comes next: Strategic, catalytic investments Clear research agreements w/ milestones & deliverables, builds long-term partnerships and impact Partnerships designed to attract larger follow-on funding Pipeline of Therapies for Shwachman-Diamond Syndrome The Programs We Follow and Support. With foundational tools and infrastructure in place, we are ready for the next steps: Advancing biomarker and endpoint development and selection to support patient priorities, such as leukemia risk reduction Supporting IND-enabling work for promising therapeutic programs Strengthening global collaboration across patient communities, academia, industry, and regulators We are staying laser-focused on our shared goal: clinical trials for SDS by 2030—not as an endpoint, but as a gateway to lasting impact toward giving SDS families more birthdays to celebrate. Looking Ahead: From Readiness to Therapies With Gratitude The progress reflected in this report is the result of a broad, collaborative effort. We are deeply grateful to the individuals, families, experts, funders, and partners who have contributed their time, expertise, trust, and lived experience to advance therapy development for Shwachman-Diamond Syndrome. Our Patient and Caregiver Community Above all, we thank the SDS patient and caregiver community. This work would not be possible without individuals and families who chose to share their lived experiences to advance research—even when doing so meant revisiting difficult topics, while navigating the daily realities of living with or caring for someone with SDS. We are grateful to participants in the SDS-GPS registry program , contributors to community surveys, individuals and families who participated in the FDA-facing Patient-Focused Drug Development (PFDD) meeting , and those who shared their stories through our documentary film and other initiatives, such as the story section of our blog . We also thank community members who support others through peer-to-peer connection, mentoring, and quiet acts of kindness—often behind the scenes, and always with generosity. Meet our SDS Expert Advisors Meet our Strategy Advisors A heartfelt thank you to our colleagues and mentors from other patient advocacy organizations who have generously shared their experience, insights, and encouragement. In particular, we are grateful to leaders from research-focused organizations in the cancer predisposition space, including the Fanconi Research Fund and the RUNX1 Research Program , for their openness, mentorship, and willingness to make connections to advance the field. Our Staff and Volunteers We are also deeply appreciative of our staff and volunteers—a small, dedicated group whose commitment, professionalism, and persistence make this work possible every day. Their efforts ensure that community trust is honored and that resources are used responsibly and strategically in service of patients and families. Meet our Team . Our Grant Partners We are especially grateful to our major grant partners, including the Chan Zuckerberg Initiative (now bi[o]hub)'s Rare as One Program , and PCORI's Eugene Washington Engagement Award Program , for their confidence in SDS Alliance’s mission and approach. Their support enabled us to build essential research tools, infrastructure, and patient-centered programs—laying the groundwork required to advance toward patient-centered research and clinical trials. These partnerships represent more than financial support; they are a strong endorsement of a strategy rooted in coordination, rigor, and long-term impact. Our Advisors, Mentors, and Scientific Partners We extend our sincere thanks to the members of our SDS Medical and Scientific Advisory Board and Strategy & Therapy Development Advisory Board , whose guidance has been essential in shaping our scientific priorities, regulatory strategy, and investment approach. Their expertise helps ensure that SDS Alliance initiatives meet the highest standards of scientific rigor while remaining grounded in patient-meaningful outcomes. We are also grateful to the researchers, clinicians, and drug development experts who have collaborated with us, presented at SDS Alliance meetings and events, and engaged thoughtfully with the SDS community. Their willingness to work in partnership with patients and caregivers strengthens the entire research ecosystem. Learn about the CZI Grant Learn about the PCORI Award Our Donors We thank the many donors who have supported SDS Alliance over the years. While some have chosen to remain private, their generosity has played an important role in demonstrating community commitment and enabling strategic partnerships and investment in research. You were instrumental in making this work possible. 15+ Expert Advisors on our boards, and many more behind the scenes lent their expertise 2 Major Grants awarded to the SDS Alliance to fuel this work with funds and resources 1008 Individual Donors showed broad community support and commitment to date since 2020 To everyone who contributed expertise, trust, time, or resources—thank you. Together, we are laying the groundwork to advance therapies and create a better future for individuals and families affected by SDS. How You Can Be Part of the Future There are many ways to move this work forward: Participate in SDS-GPS and other research efforts Share your experience to inform priorities Engage as a collaborator or partner, for example, through Project PACER Support strategic research investment through a donation , if you are able We use community contributions strategically to maximize impact—ensuring that every effort advances toward therapies for children and adults living with SDS. There are many ways to provide financial support , from a simple donation to monthly support to special event fundraising to DAF and Crypto, and more. We make it easy. Visit our Donation Page.

Brief clinical overview of Shwachman-Diamond Syndrome. What is Shwachman-Diamond Syndrome (SDS) Medical and Clinical Overview 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. Download our Flyer Request Printed Flyers Video Overview of Shwachman-Diamond Syndrome by Osmosis More info about this video in this blog post . 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. Learn More about SDS Science Protein synthesis by Ribosomes is at the core of SDS. Shwachman-Diamond Syndrome (SDS) is a genetic disorder in which the cells in the body cannot make enough protein - one of the main the building blocks of life. Virtually all our cellular and organ functions are carried out or depend on proteins, and so it is not surprising that many organ systems in the body are affected if the process of protein production is disrupted. Proteins are made by ribosomes. In SDS, there are not enough of them. Proteins are made in our cells by ribosomes, which are huge protein complexes themselves. Ribosomes make proteins by stringing together amino acids, like hands building towers of Lego blocks. The order of amino acids (Lego blocks) is specified by the genetic code in our DNA. In Shwachman-Diamond Syndrome, a genetic change in a patient’s DNA reduces the number of functional ribosomes, which in turn reduces the cells' ability to make enough protein overall. It’s like not having enough hands to meet the protein demands of the body. This can lead to an overall smaller size of the patient or some organs, but often times the impact of reduced ribosomal function is much more subtle. The impact may be invisible to the naked eye, such as stress on the bone marrow resulting in reduced blood cell production leading to fatigue and frequent infections. Overview of Shwachman-Diamond Syndrome (SDS) Shwachman-Diamond syndrome (SDS) is an inherited rare disease that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. As a bone marrow failure disorder, it puts patients at high risk of life-threatening complications such as serious infections (sepsis), aplastic anemia, myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML). There is no cure or targeted treatments for SDS thus far, and we need better treatment options, now! We estimate that about 2,000-3,000 people have SDS in the United States, and a similar number in Europe, many of them un- or misdiagnosed. Exact numbers are not available, due to the difficulties with diagnosis and tracking. This number is based on an estimated incidence of SDS of 1:70,000 live births and shortened life expectancy (median in the mid-40s). SDS Can Cause Bone Marrow & Blood Problems The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are blood cell fragments that are necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells . A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections (otitis media), and skin infections. Less commonly, bone marrow abnormalities lead to a shortage of red blood cells (anemia ), which causes fatigue and weakness, or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. People with Shwachman-Diamond syndrome have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia , which are disorders that affect blood cell production, and a cancer of blood-forming tissue (see short video about blood cancer ) known as acute myeloid leukemia (AML). Current estimates put the cumulative incidence of MDS/AML at 20 years at 18.8%, and at 30 years at 36.1%*. The only available curative treatment for these conditions is a hematopoietic stem cell (HSC) transplant (a.k.a. bone marrow transplant), but it is not an option for all SDS patients due to underlying health issues or the lack of a suitable donor. Crucially, once the disease has progressed to leukemia, it is too late. The prognosis of leukemia in SDS patients is extremely poor, despite the best efforts of modern transplant medicine. The current strategy to deal with this problem is to perform a HSC transplant BEFORE leukemia evolves. A central question is: when is the right time, given the high risks and toxicities associated with the procedure. It is highly recommended that SDS patients seek advice from medical centers experienced with SDS. * GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1756 About 1 in 5 SDS patients will develop MDS / AML by age 20 and 1 in 3 by age 30* AML / leukemia in SDS patients has an extremely poor prognosis , despite great advances in cancer treatment and transplant strategies. Hence the time bomb analogy. We need lifesaving prevention strategies and treatment options, now. Please support us, today! SDS Can Cause Problems with the Digestive System & Pancreas Shwachman-Diamond syndrome also affects the pancreas , which is an organ that plays an essential role in digestion. One of this organ's main functions is to produce enzymes that help break down and use the nutrients from food. In most infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of these enzymes. This condition is known as pancreatic exocrine insufficiency (PEI). Infants with pancreatic insufficiency have trouble digesting food and absorbing nutrients that are needed for growth. As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition (and a deficiency in fat soluble vitamins). Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome. Liver problems, such as enlarged liver and elevated liver enzymes are common in SDS patients, especially in the early years. It tends to improve with age, but can again cause life threatening issues later in life. The cause and long terms effects are not well understood. SDS Can Cause Problems with the Skeletal System & Rib Cage Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder. SDS Can Cause Several Additional Symptoms The complications of this condition can affect several other parts of the body, including the heart, endocrine system (which produces hormones) - such as increased risk of diabetes, growth hormone deficiency, and adrenal insufficiency - , and eyes, teeth, and skin. SDS Can Cause Developmental and Cognitive Challenges Studies suggest that Shwachman-Diamond syndrome may be associated with delayed speech and the delayed development of motor skills such as sitting, standing, and walking, as well as executive function disorders and learning difficulties. More about the Genetic Causes of SDS As a genetic (inherited) disorder, you cannot catch SDS from someone who has SDS. It is also not something a patient can outgrow or get over with, unlike a cold. Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. Researchers suspect that the SBDS protein may play a role in processing RNA (a molecule that is a chemical cousin of DNA). This protein may also be involved in building ribosomes , which are cellular structures that process the cell's genetic instructions to create proteins. It is unclear how SBDS mutations lead to the major signs and symptoms of Shwachman-Diamond syndrome. In cases where no SBDS mutation is found, the cause of this disorder is unknown. There are slightly more males diagnosed than females, and SDS is found in all ethnic groups. Over 90% of SDS is due to mutations in a gene called SBDS. There are a few other genes associated with SDS or SDS-like syndromes, but they account for only a handful of patients. The genetic cause for the remaining <10% of patients is still unknown. See details at https://www.ncbi.nlm.nih.gov/books/NBK1756/. How is SDS Inherited? SDS caused by SBDS gene mutations is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell need to have a mutation in order to cause SDS. Typically, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene (they are carriers), but they do not show signs or symptoms of the condition. Parents who are carriers of SBDS mutations have a 25% (1 in 4) chance of having a child with SDS, a 50% chance of their children being carriers (no symptoms), and a 25% chance of their children being unaffected (free of the SBDS mutations). There are also reports of some cases in which a patient inherited only one mutated copy of the SBDS gene from one parent, and acquired a new spontaneous mutation in the other copy during embryonic development. More Information about SDS on GARD by NIH/NCATS: Further reading: SDS Summary by Dr. Shimamura on Cancer Therapy Advisor SDS summary on Genetics Home Reference Our Diagnostic and Treatment Guideline page Disclaimer: The information provided on this website should NOT be used as a substitute for seeking professional medical diagnosis, treatment or care. You should not rely on any information in these pages to replace consultations with qualified health professionals. Most of the text and several illustrations on this page are courtesy of the US National Library of Medicine > Genetics Home Reference . We added updates and additional details from current scientific and medical publications. Reviewed by out Medical and Scientific Advisory Board.

Shwachman-Diamond Syndrome event from around the globe! SDS Community and Scientific Events Calendar August 2026 Today Sun Mon Tue Wed Thu Fri Sat 26 27 28 29 30 31 1 2 3 4 5 6 7 8 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 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 Details 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 Details 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

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. Every August, families navigating Shwachman-Diamond Syndrome (SDS) face a familiar challenge: a new school year brings with it a new set of teachers, counselors, and administrators who have likely never heard of SDS. How do you help them understand — quickly, clearly, and in a way that also shows them who your child really is? This month, SDS Alliance is launching two new free resources to help. Both were built with and for the SDS community, and both are available now. In this episode of SDS Spotlight, I share brand-new resources we developed for you — patients and families living with SDS — to help you get ready for the new school year. A Personalized School Letter — Built from a Community Idea The SDS School Letter Tool was inspired by Angela, a mom in the SDS community who had already solved this problem for her own son years ago. She created a trifold she could hand to his school team — something personal, portable, and practical. That idea stuck. SDS Alliance built it into a tool that any patient or family can use. Here is how it works: you answer a few questions about the patient, select relevant accommodations from a curated list, add one or more photos, and a few details about their personality and hobbies. The tool generates a personalized, ready-to-share document — either a multi-page letter or a double-sided trifold layout — as a downloadable PDF. The letter introduces the whole person, not just the diagnosis. Teachers and school staff get the medical context they need alongside a sense of who this student actually is. The tool is published on Zenodo under an open license — if you work with another rare disease community and would like to adapt it, the files are freely available. Suggested citation: Hars E. (2026). SDS School Letter Tool. SDS Alliance. https://doi.org/10.5281/zenodo.21324915 A Comprehensive School Guide for Patients, Families, and School Teams For families and care teams who want to go deeper, SDS Alliance has also published a comprehensive school guide: Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. The guide covers: How SDS affects learning, attendance, and daily school life Navigating IEPs, 504 plans, and other formal accommodations Communicating effectively with teachers, nurses, and administrators Managing SDS-related challenges at school — neutropenia, fatigue, pain, cognitive differences, and more Transitioning from pediatric to adult care, and from school to college or work Supporting adult patients navigating workplace accommodations The guide was developed as part of Project PACER — SDS Alliance's PCORI-funded initiative to build comprehensive, community-informed resources for the SDS community. It was clinically reviewed by Dr. Thea L. Quinton, pediatric neuropsychologist at Cincinnati Children's Hospital, and her colleagues who work directly with school teams. It is written for three audiences: patients, families, and school professionals, so that a teacher can pick it up and understand SDS in the context of their classroom, while a parent can use the same document to prepare for an IEP meeting. The guide is free, open-access, and published on Zenodo with a permanent DOI — meaning it is citable, shareable, and will remain available long-term. Suggested citation: Hars E. (2026). Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. SDS Alliance. https://doi.org/10.5281/zenodo.21316992 How These Resources Came to Be Both resources were developed as part of Project PACER — SDS Alliance's initiative to build the infrastructure of knowledge and community engagement that rare disease research depends on. Funded by PCORI (Eugene Washington PCORI Engagement Award EASO-42419), PACER is creating a suite of resources that center the patient voice at every step. The school letter tool and guide reflect our belief that the best resources for the SDS community come from the community itself. Angela's trifold served as the inspiration. Dr. Quinton's clinical expertise gave the guide professional depth. The families who reviewed it and provided feedback made it come to life. This is how our community works — solving problems together and sharing the solutions with everyone who comes after. What Comes Next — and How You Can Help The Essential Guide — Living with Shwachman-Diamond Syndrome: The Essential Guide for and by Patients, Families, Clinicians, and Researchers — is the larger resource Project PACER is building. It will cover every major aspect of SDS across 29 chapters, with clinical expert overviews, research updates, and patient and family stories at the center of each one. School, work, and daily life accommodations is one of those chapters. But there are many more. We are currently collecting patient and family stories across a wide range of topics — from neutropenia and bone marrow monitoring, to dental health, cognitive development, emotional wellbeing, transplant experiences, and more. You do not need to be a writer. You do not need a dramatic story. You just need a relevant lived experience and a willingness to share it, on your own terms. If something resonates, reach out to Eszter directly at pacer@sdsalliance.org. We will figure out together whether your story is the right fit. All August Resources at a Glance School letter tool: www.sdsalliance.org/school-letter School guide: www.sdsalliance.org/school-guide DOI: https://doi.org/10.5281/zenodo.21316992 All SDS Alliance guides: www.sdsalliance.org/guides Share your story for the upcoming Essential Guide: www.sdsalliance.org/pacer-story Project PACER: www.sdsalliance.org/pacer Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Your Data, Working Harder: SDS-GPS Joins RDCA-DAP If you are participating in SDS-GPS, you've already taken an important step toward powering research and clinical trials that are being developed now. This month, that contribution of your lived experience just got bigger. SDS-GPS data is now flowing into RDCA-DAP (the Rare Disease Cures Accelerator–Data and Analytics Platform), one of the largest integrated data platforms for rare disease research in the world. RDCA-DAP is run by Critical Path Institute (C-Path), a nonprofit that works with the FDA to help researchers design better clinical trials for rare diseases. Our research program, SDS-GPS, hosted on Matrix (built by Across Healthcare), now feeds de-identified SDS-GPS data into RDCA-DAP. This is a brand new integration, and we are excited to be part of the pilot program alongside two other rare disease communities. This has been a long way coming, as we have been exploring collaboration opportunities with RDCA-DAP for several years. If you missed their introduction to our community at SDS POPS 2023, check it out here. Why this matters Rare disease research keeps running into the same problem: patients are hard to find, and their data is hard to align. Any single disease, including SDS, may only have a few hundred documented patients worldwide. That makes it nearly impossible for any one registry, or any one research team, to gather enough data on its own to answer the questions that matter most: how does SDS actually progress over time, and what should researchers measure to know if a treatment is working? RDCA-DAP was developed to solve exactly that problem. It standardizes data from different sources such as registries, natural history studies, patient-reported data, survey data, and clinical trials, so researchers can study it together. Once SDS data is part of that system, researchers anywhere in the world can use it to study disease progression and help identify the kind of measurable endpoints that future SDS clinical trials will need. This has always been the vision behind SDS-GPS. We don't just want to collect data, but build the infrastructure to share it responsibly, so that the information you contribute can go further and help drive real progress toward treatments, including the gene therapies and other approaches our community desperately needs. Rare disease research keeps running into the same problem: patients are hard to find, and their data is hard to align. At SDS Alliance, we've always wanted to close that gap while building the infrastructure to pool data with others, so SDS patients' contributions can go further, faster. — Eszter Hars, Ph.D., CEO of SDS Alliance What this means for you You don't need to change anything on your end. You can continue using SDS-GPS as you have so far. As always, none of your personal information is ever shared. Only de-identified data, meaning nothing that identifies you personally, moves into RDCA-DAP. If you'd like more detail on how your data is protected in SDS-GPS, check out our recent blog about data privacy here: Your Data Is Safe: SDS-GPS Privacy. What does change is the reach of what you have or will contribute. Data that once lived only in our registry is now part of a shared research infrastructure, alongside data from other rare disease communities, to turn patients' and families' lived experience into treatments. What we're working on next This integration is a meaningful step, but other challenges in the rare disease field remain: how do we connect the same patient's data across multiple, separate datasets, without sharing or exchanging identifying information? We're pursuing collaborations with other SDS data holders, and exploring privacy-preserving approaches that would let researchers analyze data across multiple datasets and across multiple time points, without ever seeing who any of it belongs to. Options include shared identifier systems already used elsewhere in rare disease research, like NIH's Global Unique Identifier (GUID) or the newer Clinical Research ID (CRID), as well as third-party tokenization tools, like those offered by Datavant, that are built specifically for this purpose in health data. SDS Alliance is committed to addressing the infrastructure gaps in order to accelerate therapy development for SDS - to give our families more birthdays to celebrate. If you're a researcher, data holder, or organization interested in exploring this work with us, we'd love to hear from you. Reach out at gps@sdsalliance.org. Haven't joined SDS-GPS yet? If quality-of-life data that reflect what SDS actually looks like day-to-day, or our upcoming survey on patients' perspectives on gene therapy, weren't reason enough, here's one more: joining now allows your data to be part of an international research infrastructure that helps move treatments forward, while safeguarding your privacy. Joining is free. It takes about 30-60 minutes to fill out the baseline surveys, and you can take breaks anytime. All you need is a device with internet access. If you have your genetics report available, please consider uploading it when prompted. No medical knowledge required. Make your voice count. Questions about this survey or SDS-GPS? Visit the information page at www.sdsalliance.org/sds-gps or contact us at gps@sdsalliance.org. 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Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month’s SDS Spotlight, Eszter Hars, Ph.D. — molecular biologist, SDS Alliance CEO, and mother of a child with SDS — shares a brand new tool we developed for patients and families to learn about gene therapy for SDS, and how their voice can help move it forward. One step closer to Clinical Trials by 2030. In this episode of SDS Spotlight, I share a brand-new tool we developed for you — patients and families living with SDS — to help you learn about the types of gene therapy being considered. How you can help move gene therapy forward for SDS Gene therapy for SDS is getting closer to reality. Research has reached a stage where your perspectives — what you hope for, what you worry about, and what you need to know — can shape what gets developed and how. This is your invitation to be part of this work. What patients and families told us they want to know A few weeks ago, we ran a quick poll in our Family Network Facebook group. We asked: What would you most want to learn about gene therapy for SDS? Nearly 40% of you wanted to know when it will be available. Another 27% wanted to know who would qualify. There was less interest in how it works and what the risks are. The key questions from the patient and family community: When and for whom. These are hard questions to answer. We don't know yet. What we do know is that the timeline depends, in part, on how well prepared the community is when trials open. And that preparation starts now. Why gene editing? Why for SDS specifically? Let's look into what makes gene editing the right approach for SDS, and why it took until now to get here. If you have watched our genetics video, you already know that SDS is caused by a spelling mistake in the instruction book that tells your body how to build and run itself. One specific spelling mistake — called the splice-site mutation, or c.258+2T>C — is present in virtually all patients whose SDS is caused by changes in the SBDS gene. Because almost everyone shares this same change, researchers can focus their entire effort on correcting that one typo. That is unusual in rare diseases, and helps us tremendously in moving development forward. Are you new to the genetics of SDS? Our short video explains the basics: Not sure how SDS works at the genetic level? Start here. SDS Alliance genetics explainer video — understanding genes, mutations, and Shwachman-Diamond Syndrome But correcting a spelling mistake in a living cell, and enough of them, is not easy. Until recently, gene therapy approaches were not efficient or precise enough. Traditional gene therapy approaches added extra copies of a gene in multiple spots in the genome, which doesn't work for SDS either, because the body needs exactly the right amount of SBDS protein. Not too much, not too little. More recent CRISPR tools worked with more precision, but they cut both strands of DNA in ways that blood stem cells don't handle well. This is where the newer generation of gene editing tools comes in. Base editing and prime editing — developed by Dr. David Liu at the Broad Institute or MIT and Harvard — can find and fix a single letter in a three-billion-letter instruction manual without cutting both strands of DNA. They make smaller, more controlled changes that blood stem cells tolerate far better. And they correct the spelling mistake in its original location, which is essential for preserving the body's natural control over how much SBDS protein is made. Here is Dr. Liu explaining how these tools work, in his own words: Dr. David Liu, inventor of base and prime editing, explains how these gene editing tools work. These tools are now ready for patients. Clinical trials using these approaches are already underway for other blood disorders (not yet SDS), with early results promising and laying the groundwork for additional genetic disorders. For SDS specifically, researchers have shown these tools work in early lab studies. No clinical trials yet — but we are getting closer. We make learning about gene therapy for SDS easy for you Our brand-new interactive guide to gene therapy, specifically for SDS patients and families, is ready! Gene therapy is a complex topic. We get it. That is why we built an interactive guide specifically for SDS patients and families. No scientific background needed. The guide walks you through what gene therapy for SDS would actually look like, the three approaches being studied, who they are designed for, and what is still unknown. If you want to go deeper into the science, that option is there too, but it is completely optional. There are animations, visuals, and plain-language explanations at every step. You can go at your own pace, come back anytime, and share it with anyone in your life who wants to understand what is happening in SDS research. This is the conversation the SDS community deserves to have. Start here. What we still need to learn — and why your voice matters Here is what the science and lab research cannot tell us: What matters most to you. Researchers can design a therapy that works in a lab. They can show that it is safe in animal models. They can run a Phase 1 trial to establish safety in humans. But they cannot design a trial that works for our patients without knowing what they actually want and need. Do families want a preventive approach — something that could reduce future leukemia risk before the disease progresses — even if it means being among the first to try it? Or do they want to wait until their situation becomes more urgent? How do families think about chemotherapy as part of the process? What would it take for a family to say yes to an experimental therapy? What would make them say no? Researchers, therapy developers, and regulators (such as the FDA) need to hear from you. They cannot get this information from anywhere else but YOU. And the time to share your voice is now, before trials open, when the answers can still influence how trials are designed, who is included, and what outcomes are measured. That is exactly what we are building toward. What you can do right now This fall, SDS Alliance is launching a gene therapy survey on our patient survey and registry platform, SDS-GPS. It will ask you about your priorities, your concerns, and your perspectives on three different approaches being considered for SDS. Your responses will inform researchers and help shape how gene therapy is developed for SDS patients. The survey opens in September. But you can get ready now. We have built an interactive educational tool to help you understand the landscape before the survey opens. It includes the three approaches being studied, who they are designed for, and what we still don't know. The science behind gene editing for SDS is also explained, but it's optional. The tool is designed for patients and families, not scientists. No prior knowledge needed. And if you are not yet on SDS-GPS, now is a great time to set up your account. Onboarding takes about 30–60 minutes, and once you are set up the survey will be waiting for you in September. A note on timing We know the question families most want answered is "when". We cannot give you a an exact date. What we can tell you is that the science is advancing, the tools exist, and the SDS community is making progress. Clinical trials for other blood disorders are generating data that will pave the path for SDS. And you sharing your voice now is a critical piece of the puzzle. The question is no longer if. It is when — and how well-prepared we are when the moment arrives. Your perspective is part of that work. Join us. Questions about this survey or SDS-GPS? Contact us at gps@sdsalliance.org Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below