The Shwachman-Diamond Syndrome Registry (SDSR)

Director: Akiko Shimamura, MD, PhD              Co-Director: Kasiani Myers, MD

Shwachman-Diamond Syndrome (SDS) is a disorder characterized by low blood counts, increased risk of leukemia, and digestive problems due to malfunction of the pancreas.  The mission of the Shwachman-Diamond Syndrome Registry (SDSR) is to offer a unique resource that promotes science and discovery to improve the diagnosis, treatment and ultimately curing of children and adults with SDS. While the majority of patients present with symptoms in childhood, increasing numbers of adults are diagnosed with SDS due to improved awareness of this syndrome. The Registry serves a crucial role in finding a cure for SDS.

Typical symptoms may include frequent loose bowel movements, poor growth, frequent infections, low energy/fatigue or increased bruising or bleeding.   Some people with SDS have additional symptoms such as those involving the bones, liver, immune system, heart, eczema, and other organ systems.  However, some people with SDS may lack apparent symptoms for a long time.  Early diagnosis allows treatment prior to the development of irreversible complications.

Since SDS is a rare disorder, limited information is available to guide diagnosis, medical management, and treatment.  To address this gap and improve the health of patients with SDS, the  Registry was established in December of 2008 to collect clinical information and samples from people affected with SDS and their families.  The  SDSR was first headquartered at the Fred Hutchinson Cancer Research Center and later moved to Boston Children’s Hospital in collaboration with Cincinnati Children’s Hospital and Medical Center. Together, we can cure SDS!

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