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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

Our work would not be possible without your financial support. We make it simple to make a gift through our online donation tools and more. Your Donation Saves Lives Donate Securely with Credit Card, ACH, or PayPal Give One Time or Monthly Join our Monthly Giving Allies : your monthly contribution will support our work year-round — ensuring that we can maintain our ongoing efforts to make SDS research possible and efficient. To set up a regular donation, select the “Monthly” option on the form on this page, or the Monthly Giving Allies campaign page . You can cancel or make changes anytime. Click here to open the donation form in a new window in case the embedded form is not working for you. donate Double Your Impact Corporate or employer gift match Many corporations match employee donations to the SDS Alliance. It's an easy way to double your contribution to accelerate SDS research and therapy development. Just search for your company here (on the Charity Navigator employee matching search) and follow the instructions to reach out to your employer. Thank you for going the extra mile! Employer-gift-match Monthly Giving Allies is our new community-powered monthly giving circle. It brings together families, caregivers, friends, and supporters who want to help accelerate research, strengthen advocacy, and advance therapy development for Shwachman-Diamond Syndrome. Monthly giving isn’t about the amount. It’s about being counted. When many families give even a small amount each month, it shows researchers, funders, and biotech partners that the SDS community is large, united, and determined to push for progress. Every Ally strengthens our collective voice. Every gift fuels the mission to #CureSDS. Every action takes us closer to Clinical Trials by 2030. Every contribution enables us to give SDS patients more birthdays to celebrate. Why Monthly Giving Matters * Helps fund long-term, high-impact research projects * Demonstrates community strength to funders and scientific partners * Supports therapy development initiatives * Provides predictable, reliable funding * Shows unity and determination within the SDS community Small monthly gifts add up — because there is Strength in Numbers to #CureSDS. Go to Monthly Giving Allies Form Learn More Fundraise with an Event & Personalized Webpage Set up a personalized fundraising page on our GiveLively donation platform , by clicking the "Start a Fundraiser" button on any of our fundraising pages or here . All donations go into the SDS Alliance bank account, and donors receive an automatic receipt right away. You can create fundraisers for any special occasion or to increase your impact at any time of the year. Email gifts@sdsalliance.org for help. We will be happy to assist. Fundraising Tips Donate or Fundraise through Facebook We are an approved charity on Facebook. Visit our Facebook page at www.facebook.com/SDSAlliance and use the "Donate" button at the top, donate to an existing fundraiser benefiting us, or create your own personalized fundraiser. Send a Check in the Mail If possible, please give us a heads about your check and confirming the address by emailing us at gifts@sdsalliance.org., so we can keep an eye on it and ensure that you receive a receipt and heartfelt thank you in a timely manner. Make checks payable to Shwachman-Diamond Syndrome Alliance. Send to: Shwachman-Diamond Syndrome Alliance PO Box 2441, Woburn, MA 01888, USA. Wire from Your Bank Please contact us at gifts@sdsalliance.org for details. Use Your Donor Advised Funds We partnered with Every.org to process DAF donations. If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Your donation is made to Every.org, a tax-exempt US 501(c)(3) charity that grants unrestricted funds to Shwachman-Diamond Syndrome Alliance Inc on your behalf. As a legal matter, Every.org must provide any donations to Shwachman-Diamond Syndrome Alliance Inc on an unrestricted basis, regardless of any designations or restrictions made by you. FAQ How does Every.org accept my donation? Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. On a weekly basis, Every.org grants to Shwachman-Diamond Syndrome Alliance Inc. This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? We do not charge any fees to accept DAF gifts, and currently cover all the Chariot fees. Every.org does not charge any platform fee of our own, because we are a nonprofit. Instead, we rely on the generosity of donors to fund our mission of philanthropy for everyone. Will I receive a tax-deductible receipt for my donation? If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Open DAF Donation Form crypto Donate Crypto (NEW) We partnered with Every.org to process Crypto donations. Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. We then partner with PayPal Grants to grant to Shwachman-Diamond Syndrome Alliance Inc on a monthly basis (or semiannually for balance under $100). This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? Our exchanges generally charge a 1% flat fee to automatically liquidate cryptocurrency. Every.org does not charge any fees of our own. Open Crypto Donation Form Planned Legacy Gifts & Bequests You can leave a legacy while at the same time supporting the mission of the SDS Alliance. We are committed to making your gift meaningful to you. A bequest through your will allows you to designate a specific dollar amount or a percentage of your estate to SDS Alliance. A bequest may reduce the amount of your taxable estate, which may increase the actual amount available to loved ones. Please talk to your attorney or financial advisor to determine the best way to include us in your estate plans. Contact us at connect@sdsalliance.org or +1-617-329-1838. Stock and IRA Charitable Giving Gifts of Stock that have been held for more than 12 months offer two-fold tax savings: a tax deduction for the full fair market value of the stock on the date of the gift and capital gains can be avoided. Please talk to your tax or financial advisor. Individual Retirement Account (IRA) owners over age 70½ may make a transfer of up to $100,000 per year to qualified charities, including Shwachman-Diamond Syndrome Alliance. IRA charitable rollovers are tax-free and not included in adjusted gross income. An IRA charitable rollover may fulfill part or all of your required minimum distribution (RMD). For more information on making an IRA contribution please talk to your tax or financial advisor. Personalized Memorial Page Every life should be celebrated and every loved one should be remembered. Creating a personalized memorial page in loving memory of a loved one is a way to remember those who have recently passed and a way to provide a dedicated link for friends and family to make a donation. You can personalize this page with text and a photo. As long as the page remains active, you can continue to use it to invite gifts in memory of your loved one. To create a personalized memorial page, use our donation platform and click "I want to fundraise for this" as described above. Or, contact us at connect@sdsalliance.org or call us +1-617-329-1838 for assistance. For any questions or comments, please email us at gifts@sdsalliance.org

We created a beautiful documentary film "Until There's a Cure" about the SDS journeys of four wonderful families, providing a new way for researchers and regulators to relate to and understand what it's like to live with SDS. The film had a significant impact at our EL-PFDD meeting. Now, we would like to expand the film by weaving in the story of a fifth SDS family, and shed light on what we as a community can achieve when we work together. Join us. SDS Documentary Film: Until There's a Cure We created a beautiful documentary film - titled "Until There's a Cure" - about the SDS journeys of four wonderful families, providing a new way for friends, families, researchers, and regulators to relate to and understand what it's like to live with SDS. Each story is unique, yet represents common experiences in the SDS community. The film had a significant impact at our EL-PFDD meeting . Now, we would like to expand the film by weaving in the story of a fifth SDS family, and shed light on what we as a community can achieve when we work together. We invite you to invest in this communication tool to inspire more people to help us accelerate our strategy and roadmap and reach our goal of clinical trials by 2030. Together, we can move mountains. To stay in the loop, subscribe to our mailing list . To invest in this work of art and to help advance our mission of giving SDS families more birthdays to celebrate, please consider making a gift today, or join our work as a monthly supporter. Thank you for your dedication to our community. For additional donation and fundraising tools, such as DAFs, Crypto, and personalized Fundraising Pages, please visit our donation page .