Makenna was first put on Hematology/ Oncology’s radar at ten weeks old when it was discovered that her hemoglobin levels were critically low. Ten months later.....Read More View Photos
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!
The Shwachman-Diamond Syndrome Registry (SDSR) is dedicated to accelerating research and treatment for SDS to improve survival and quality of life for all patients with the disease. The ultimate goal is to cure SDS!
The SDSR is centered at Boston Children’s Hospital in Boston, Massachusetts and Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio. SDSR is dedicated to sharing new knowledge with patients, families, and healthcare professionals.
Shwachman-Diamond Syndrome (SDS) is an inherited condition typically characterized by low blood counts and digestive problems. Many patients have additional symptoms such as problems with growth, bone abnormalities, and infections.
Most cases of SDS are associated with genetic changes, called mutations, in the SBDS gene. It is possible that additional genes that are not yet identified may also cause SDS. SDS is a rare disorder and our understanding of the medical complications and best treatments remains limited.
SDS, first described in 1964, is an inherited (autosomal recessive) marrow failure disorder that affects multiple organ systems. SDS can affect multiple additional organ systems. In SDS, the bone marrow (the factory that makes your blood), does not function well. The following conditions may occur:
The success of the SDS Registry critically depends on funding support.GIVE TODAY!