We are dedicated to financially supporting and advocating for research towards curative therapy for all patients.
Our worldwide mission revolves around educating and empowering individuals and their families affected by Shwachman-Diamond Syndrome. We are devoted advocates for the community, working tirelessly to raise awareness and support. Furthermore, we participate in an online platform where patients can share experiences and connect with other families.
Family Support
Whether you are going through the SDS diagnosis, are newly diagnosed or have been dealing with SDS for a while, join our SDSF family.
Need for Research
With the support of our SDS families and generous supporters, we have funded many important research projects.
Patient Registry
The more data that is available to doctors and researchers, the faster they can help with diagnosis, treatments, and hopefully a cure.
Patient Care
With a diagnosis of SDS, there are several important documents and records that should be organized to keep track of a patient’s care.
SDSF is proud to fund and support new and exciting research projects that will benefit all SDS patients.
Shwachman-Diamond Syndrome Foundation (SDSF) is a 501c3 non-profit organization.
Over 95% of all donations go directly to research and family support.
We rely on caring individuals, like you, to continue our work.
We want a future for SDS patients in which we can eliminate the primary cause of death, and improve the quality of their lives.
To do this we must fund research.
Please consider making a financial gift to SDSF. Monthly donations are greatly appreciated.
Who We Are
Shwachman-Diamond Syndrome (SDS) is an ultra-rare and highly complex bone marrow failure disease.
The exact incidence of SDS is unknown, but it is thought to be as rare as 1 in every 150,000 live births. There are about 400 SDS patients in the United States, but through social media, we are aware of over 700 patients worldwide. As with any rare disease, most patients do not have access to knowledgeable physicians, nor have they ever met someone with the same disease.
Shwachman-Diamond Syndrome Foundation (SDSF) feels it is imperative to educate and support patients so that they can optimize their health and eliminate feelings of isolation.
Making an Impact
SDSF has helped us get in contact with good doctors, given us a community where we feel like we belong. They are actively working to help researchers find treatment options for us, which helps us feel better about the future.
SDSF provides me with peace of mind knowing they have my back with information and support.
It’s a foundation that helps patients and families learn and get help, it also helps families get in contact with other families and doctors. It finances research to help families.
Ongoing SDS Research for Better Treatment and a Cure
The advancement of scientific knowledge and research is imperative to finding a cure for Shwachman-Diamond Syndrome. SDSF funds research grants in all areas affected by SDS.
Minimally Invasive Risk Assessment for People with SDS
This project seeks to enhance leukemia risk monitoring for SDS patients, who are prone to blood cancers like MDS and AML. Survival rates are low post-diagnosis. Current detection relies on painful and stressful bone marrow biopsies. Our researchers are exploring using blood genetic mutation testing for less invasive and targeted screening.
Restoring Ribosome Function
We’re urgently developing small molecules to target eIF6 protein in Shwachman-Diamond Syndrome, aiming to restore ribosome function and improve patients’ lives. Early findings suggest this approach could alleviate symptoms and reduce the risk of blood cancers. With your support, we’re hopeful about significant progress within 5 to 10 years.