Thank you for your interest in rallying support to #CureSDS! As a rare disease community, our strength lies in our personal connections. When you share your family’s journey, you aren’t just asking for a donation — you are putting a face to SDS, raising important awareness, and building a community of advocates. These are all stepping stones to achieve our goals, together. Fundraise Your Way to #CureSDS Thank you for your interest in rallying support for Shwachman-Diamond Syndrome Alliance and our shared mission to #CureSDS! As a rare disease community, our strength lies in our personal connections. When you share your family’s journey, you aren’t just asking for a donation — you are putting a face to SDS, raising important awareness, and building a community of advocates. These are all stepping stones to achieve our goals, together. We know that life with SDS is incredibly busy and at times extremely challenging. Your family's health and well-being always come first. There is absolutely no pressure. The beauty of community fundraising is that every single effort, no matter how big or small, adds up to a massive impact. It’s about doing what you can, when you can, to feel connected and proactive. Every dollar raised and every conversation sparked brings us closer to: Clinical Trials by 2030 — ultimately, giving SDS families more birthdays to celebrate. Click to open the Guide Ways You Can Help Whether you want to support from home or bring your local community together, we have options to fit every family's schedule, energy, and comfort level: ① Double your Impact with Employer Matching Many companies and organizations match employee donations to nonprofits like ours — meaning your gift, or the gifts you raise from colleagues, could be doubled or even tripled at no extra cost to you. It takes about five minutes. Search for your company, then follow your employer's instructions to submit a match request. SDS Alliance is a registered 501(c)(3) nonprofit (EIN 84-4654297) and will provide any documentation your employer needs. Look up your employer ② Make Introductions Do you know someone at a company — an employer, a local business, a foundation — who may want to support your family, our shared mission, and SDS research? You don't need to make the pitch yourself. A simple introduction can open doors and lead to a big impact. SDS Alliance has a full sponsorship program with partnership opportunities at every level. Email us at gifts@sdsalliance.org to make an introduction or request our sponsorship package, and we will take it from there. ④ Send a Holiday Appeal Turn your annual holiday card mailing into an easy way to raise funds and awareness. We can help you draft a short, personalized family message to include with your cards, or we can even print and mail a beautiful, custom appeal letter directly to your friends and family list on your behalf. Whatever works best for you. Holiday Appeal ⑤ Rock Our Cause (T-Shirt Fundraisers) T-shirts are a fantastic, visual way to raise awareness and funds simultaneously. We have a selection of fun and beautiful designs ready to go in our official Bonfire store. You can use these designs as-is to launch an apparel fundraiser, or our team can help you customize them with your team name or inspiring message! If you're feeling creative, you can even design your own custom apparel to benefit the cause. ③ Pledge Your Birthday or Special Occasion Make your next milestone extra meaningful. Instead of traditional gifts, you can invite friends and family to donate to the SDS Alliance for your birthday, anniversary, or wedding. We can help you set up a simple Facebook fundraiser or a customized GiveLively digital campaign to make sharing your page with loved ones a breeze. ⑥ Low-Lift Partnership Fundraisers Consider coordinating a simple partnership campaign. Programs like hosting a virtual Pampered Chef cooking party are incredibly low-lift. While these may be lower reward than a large-scale event, they are a steady, simple way to show your support and do something positive without overwhelming your schedule. ⑦ Join Our Annual Virtual Event: Step Up to #CureSDS Launch a team for Step Up to #CureSDS (www.sdsalliance.org/steps), our annual virtual step-counting and fitness challenge. It is a wonderful, low-pressure way to connect friends, family, neighbors, and coworkers from all over the world to walk, run, or move together in honor of your loved one. ⑧ Create Your Own Local Event From a neighborhood lemonade stand, backyard bake sale, or school dress-down day to a charity golf tournament, creating your own independent event is a wonderful way to bring your immediate community together. Real Stories, Real Impact I used to feel overwhelmed thinking I had to plan a massive gala to make a difference. But when we started small, with a customized t-shirt drive and joining the Step Up to #CureSDS challenge, I realized how much our friends and family wanted to support us. They just needed a simple way to do it. It didn’t take over our lives. It gave our family a profound sense of hope and control. — Rebecca, mom to Declan (age 9, living with SDS), NJ, USA Rebecca presented her family's experience at SDS POPS 2025 — our annual virtual SDS Patient and Advocacy Summit. The video below takes you right there, to her section. Tools We Provide to Make it Easy We want to take the administrative burden off your shoulders so you can focus entirely on your community. When you partner with us for an event, the SDS Alliance can provide: Personalized Digital Fundraising Pages We will help you set up your own customized fundraising page powered by GiveLively, making it simple and secure to collect online donations AND tell you story. You just add a photo of your SDS hero and a brief note, and you're ready to share! To get started, ① click on Start a Fundraiser on any of our GiveLively fundraising pages. ② Add a photo and your brief story, and ③ share your page with your network. See our guide, linked above, for more details. Custom Graphics, QR Codes, and Text-to-Donate We can generate custom flyers, letters, or digital cards complete with a dedicated QR code or a "Text-to-Donate" code, making it incredibly easy for people to give instantly from their mobile phones -- at your event or anytime, anywhere. We can even help set up a custom T-shirt campaign for your community! SDS Alliance-Branded Materials We can supply flyers, brochures, and literature to distribute at your event. We can even ship a pop-up banner to anchor your event. Promotional Support As staff time allows, we can help you craft letters, emails, press releases, and flyers to spread the word. Official Authorization We will provide an official letter of authorization to validate the authenticity of your event and its organizers to prospective sponsors or donors. Donor Transparency When you use your customized fundraising page on GiveLively, you will be able to see who has donated to you campaign and how close you are to your fundraising goal! This will help you thank your donors and community. How Your Contributions Make a Giant Impact We don’t just throw funds at a single, isolated project. Instead, we use a smart portfolio approach. We think of it as tending a garden of cures. When you fundraise or give to the SDS Alliance, your dollars act as the water and nutrients that fuel this entire ecosystem: Nourishing the Roots: Your support builds essential research tools and infrastructure—the underlying soil that all scientists need to move SDS research forward, effectively. Tending Multiple Sprouts: We fund multiple therapy paths at the same time. By helping different ideas grow simultaneously, we ensure that if one path hits an unexpected roadblock, other treatments are already growing right behind it. Sprouting New Projects: We constantly plant new research and infrastructure seeds, tracking down fresh collaborations and expand our global community of experts. In this garden, our patients and families are the Sun . Your energy, your personal stories, and your collective participation are what draw academic researchers, biotech partners, top advisors, and major funders to our ecosystem. Together, we are keeping these budding cures growing every day —to bring clinical trials to reality by 2030 and give our families more birthdays to celebrate. Friendly Guidelines & Limitations To protect your family and ensure our community's fundraising aligns smoothly with legal and organizational policies, all independent activities (known as "Third-Party Events") just need to follow a few standard guidelines: Clear Branding: Promotional materials must make it clear that the SDS Alliance is the beneficiary of the event, not the host. For example, please use names like "The Jane Doe Golf Tournament, benefiting SDSA " rather than "The SDS Alliance Golf Tournament". Logo Approvals: Any materials featuring the SDSA logo (including flyers, custom t-shirts, and posters) must be reviewed and approved by the SDS Alliance prior to printing or online distribution. Email us at connect@SDSAlliance.org Expenses and Tax Exemption: Event organizers are fully responsible for event planning, safety, and expenses. SDS Alliance cannot advance funds, reimburse expenses, or extend its tax-exempt status for event purchases. We highly recommend securing local event sponsors or charging a registration fee to cover your overhead costs. What We Cannot Provide: Please note that legally, SDS Alliance cannot provide insurance or liability coverage for independent events, mailing lists of our existing donors or vendors, official SDS Alliance stationery, tax receipts for donations not made directly to the SDS Alliance, celebrity booking (wish we could :)), or staff attendance. For all details, please check out our Gift Acceptance Policy, linked in the footer of this website. Ready to do something special? We are so incredibly grateful to have you in our community. If you want to chat about an event idea or best practices, customize a Bonfire T-shirt design, set up a GiveLively page, or become a Monthly Giving Ally, please reach out to us at gifts@sdsalliance.org . We are in this together! current fundraisers Current & Upcoming Fundraisers Past Fundraisers

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.

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Sun, May 19 | Virtual event Global SDS Family Coffee Chat Monthly virtual get-together to build community and support. Registration is closed See other events Time & Location 19 more dates May 19, 2024, 3:00 PM – 5:00 PM EDT Virtual event Select Upcoming Date About the event Global SDS Family Coffee Chat Register at www.sdsalliance.org/coffee to receive the meeting link and details. The goal and vision for this program is to connect SDS families worldwide. Living with ultra-rare diseases like SDS can feel very isolating, and family connections are an essential source of comfort, information, knowledge, and support. This virtual meeting is for patient families by patient families. The organizers - also part of the community - are creating infrastructure and support for the community to thrive. For this meeting, the SDS family community is defined as people with a genetically confirmed diagnosis of SDS or an SDS-like syndrome (based on the genes SBDS, EIF1, SRP54, and DNAJC21) and their direct caregivers (parents, legal guardians, or partners). Please only join if you meet these criteria. If you are seeking genetic testing and need guidance, please contact genetics@SDSAlliance.org. Register at www.sdsalliance.org/coffee to receive the meeting link and details. Login and call-in information will be emailed to participants who sign-up before the meeting. If we don't already know you, we may reach out to you to welcome you to the community. We look forward to connecting soon! Show More Share this event