Join the global campaign to amplify 100 VOICES to #CureSDS and be part of a group of patients and caregivers that helps accelerate research and therapy development by sharing their SDS story and their lived experience with Shwachman-Diamond Syndrome. The Voice of the Patient matters. 100 VOICES to #CureSDS Share your story to make a difference! Share your story. Make an impact. Make it count. Be part of this global movement to show strength in numbers . Show researchers and regulators that we are ready for therapies and cures for SDS. How YOU can make a difference: ... and earn a FREE T-shirt (like above) along the way... Be part of the first 100 participants in SDS-GPS Power the impact of the Patient Voice in research. Make your voice count. NEW: Join by March 15th and earn a FREE T-shirt! Explore SDS-GPS & Be part of the biggest and most impactful patient voice meeting ever: SDS PFDD In-person OR virtual . Your voice matters. Join the meeting and be part of the Voice of the Patient Report for a long-lasting impact. NEW: Register by March 15th and earn a FREE T-shirt! Register Now Learn More

Access no-cost genetic testing and other diagnostic tools, here. Get Tested for SDS Timely and accurate diagnosis of SDS is critical for patients to access optimal care, education, and community support. We have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are. This page is dedicated to our Probably Genetic sponsored genetic testing program, available to people in the United States, in all states except New York. If this program doesn't work for you, please check out or other resources or email us at connect@SDSAlliance.org . We are excited to announce our new collaboration with Probably Genetic as a patient-finding partner for our community. If you or anyone you know is looking for a trusted genetic testing resource, Probably Genetic runs a no-cost, low-barrier testing program for individuals experiencing primary immunodeficiency disorders. Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access affordable genetic testing. The company has recently launched a no-cost genetic testing program for individuals with primary immunodeficiencies. Eligibility is determined by a brief, user-friendly quiz about the patient’s symptoms, and testing only requires a saliva sample collected at home. Clinical-grade whole exome sequencing reports all pathogenic, likely pathogenic, and variants of uncertain significance associated with the patient’s reported symptoms. Apply to determine if you are eligible using their symptom checker below, or use this link. To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance. How it works Go to the Symptom Checker website on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes. The Probably Genetic team will thoroughly evaluate your Symptom Checker response to assess your eligibility. This typically occurs within one to two weeks. If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. We can also assist you in scheduling a USPS pick-up. Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those that are not immuno-related. If genetic testing is offered, you will have access to post-test genetic counseling with a board-certified genetic counselor. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results. View the status of your Symptom Checker submission and/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data. Take the Symptom Checker below, or use this link. The Probably Genetic team is always open to feedback so the program is as successful as possible for this community!

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All Blogs All Posts SDS Alliance News SDS Patient Stories and News SDS Science News SDS Alliance Partner News SDS Science Snapshots In Loving Memory Log in / Sign up Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA 2 hours ago SDS Science Snapshots SDS & Science Snapshots (2024-08-25) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Aug 17 SDS Science Snapshots New Publication by the SDS Alliance Highlights SDS as a Therapeutic Target. SDS & Science Snapshots (2024-08-17) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Aug 4 SDS Science Snapshots SDS & Science Snapshots (2024-08-03) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Jul 20 SDS Science Snapshots SDS & Science Snapshots (2024-07-20) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Jul 13 SDS Science Snapshots Free Genomic Sequencing for SDS through New Collaboration with Rare Genomes Project. SDS & Science Snapshots (2024-07-13) Eszter Hars, Ph.D., President and CEO, SDS Alliance Jul 7 SDS Patient Stories and News Octavian's SDS Story: A Rare Gem with EFL1 Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Jun 8 SDS Science Snapshots SDS & Science Snapshots (2024-06-08) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Jun 1 SDS Science Snapshots SDS & Science Snapshots (2024-06-01) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA May 18 SDS Science Snapshots SDS & Science Snapshots (2024-05-18) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA May 11 SDS Science Snapshots SDS & Science Snapshots (2024-05-11) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA May 4 SDS Science Snapshots SDS & Science Snapshots (2024-05-04) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Apr 27 SDS Science Snapshots SDS & Science Snapshots (2024-04-27) Eszter Hars, Ph.D., President and CEO, SDS Alliance Apr 20 SDS Science Snapshots SDS Alliance Presents at the International INNOCHRON Scientific Meeting. SDS & Science Snapshots (2024-04-20) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Apr 13 SDS Science Snapshots SDS & Science Snapshots (2024-04-13) Eszter Hars, Ph.D., President and CEO, SDS Alliance Apr 6 SDS Science Snapshots SDS & Science Snapshots (2024-04-06) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Mar 30 SDS Science Snapshots SDS & Science Snapshots (2024-03-30) Eszter Hars, Ph.D., President and CEO, SDS Alliance Mar 24 SDS Science Snapshots SDS & Science Snapshots (2024-03-23) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Mar 16 SDS Science Snapshots SDS & Science Snapshots (2024-03-16) Ashley Thompson, MS, CGC, Genetics Project Manager @ SDSA Mar 9 SDS Science Snapshots SDS & Science Snapshots (2024-03-09) Eszter Hars, Ph.D., President and CEO, SDS Alliance Mar 3 SDS Patient Stories and News Alex's SDS Story and Diagnostic Odyssey (US)

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