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Boston Children's Lysosomal Storage Disorder (BoLD) Program is a multidisciplinary, patient centered program for children and adults with known or suspected lysosomal storage disorders. These conditions are typically caused by missing lysosomal enzymes, leading to a build of potentially harmful substances. Symptoms may include developmental delay, intellectual disability, enlargement of the liver and spleen, joint restrictions, coarse facial features and heart problems. More than 50 lysosomal storage disorders are known to date, including mucopolysaccharidoses, Gaucher disease and Tay Sachs disease. Early diagnosis is critical to initiate timely therapy and counsel the family about recurrence risk for future pregnancies.
Boston Children's established the Lysosomal Storage Disorder Program in 2003 to focus specifically on the management and treatment of these rare disorders.
Care for lysosomal storage disorders is often fragmented, since they cause many different kinds of symptoms. We offer integrated, individualized, multidisciplinary inpatient and outpatient care for these conditions, including access to world renown specialists in Genetics, Metabolism, Cardiology, Otolaryngology, Hematology, Neurology, Orthopedics, Nephrology and Physiotherapy. We offer cutting edge diagnostic testing through a collaboration with the Department of Laboratory Medicine and Claritas Genomics Inc and access to the clinical trials of the latest drugs.
Our team maintains close ties with a number of family support groups and patient advocacy groups that provide families facing similar challenges with additional support and helpful educational information.
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”