Shwachman-Diamond syndrome (SDS) is a rare genetic disorder inherited in an autosomal recessive manner, primarily affecting an individual's bone marrow, pancreas, and skeleton. This condition impacts an estimated 2,000 Americans, occurring in approximately 1 in 80,000 newborns, with symptoms typically developing by 4 to 6 months of age. Due to the variable and sometimes mild nature of its signs, SDS is often underdiagnosed. Key characteristics of SDS include bone marrow dysfunction , leading to low white and red blood cell counts, which increases susceptibility to infections and the risk of blood disorders like acute myeloid leukemia. Another hallmark is pancreatic insufficiency , causing digestive problems, poor weight gain, and failure to thrive. Additionally, skeletal abnormalities are common, often resulting in short stature and orthopedic issues. While there is no cure for SDS, treatment focuses on managing symptoms and complications, such as pancreatic enzyme replacement therapy and medications to stimulate white blood cell production. Early diagnosis and multidisciplinary care are crucial for improving the quality of life for affected individuals, though the condition significantly reduces life expectancy. This resolution seeks to designate November 7 as Shwachman Diamond Syndrome Awareness Day to enhance public understanding, support those afflicted, and encourage more research into effective treatments for this challenging disease.
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Timeline
Submitted in House
Referred to the House Committee on Energy and Commerce.
Submitted in House
Referred to the House Committee on Energy and Commerce.
Designating November 7 of each year as ''Shwachman Diamond Syndrome Awareness Day''.
USA119th CongressHRES-1133| House
| Updated: 3/24/2026
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder inherited in an autosomal recessive manner, primarily affecting an individual's bone marrow, pancreas, and skeleton. This condition impacts an estimated 2,000 Americans, occurring in approximately 1 in 80,000 newborns, with symptoms typically developing by 4 to 6 months of age. Due to the variable and sometimes mild nature of its signs, SDS is often underdiagnosed. Key characteristics of SDS include bone marrow dysfunction , leading to low white and red blood cell counts, which increases susceptibility to infections and the risk of blood disorders like acute myeloid leukemia. Another hallmark is pancreatic insufficiency , causing digestive problems, poor weight gain, and failure to thrive. Additionally, skeletal abnormalities are common, often resulting in short stature and orthopedic issues. While there is no cure for SDS, treatment focuses on managing symptoms and complications, such as pancreatic enzyme replacement therapy and medications to stimulate white blood cell production. Early diagnosis and multidisciplinary care are crucial for improving the quality of life for affected individuals, though the condition significantly reduces life expectancy. This resolution seeks to designate November 7 as Shwachman Diamond Syndrome Awareness Day to enhance public understanding, support those afflicted, and encourage more research into effective treatments for this challenging disease.