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Lysosomal storage diseases are inherited genetic defects caused by a lack of enzymes that normally eliminate unwanted substances in the cells, which over time can damage the body's systems and organs. The Lysosomal Storage Program at Children's Hospital Boston provides a mulitidisciplinary service for the diagnosis and management of lysosomal storage diseases, by initial referral to the Metabolism Program in the Division of Genetics.
We offer:
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- Diagnosis: The diagnosis of lysosmal storage disorders (such as MPS, Gaucher Disease, Fabry Disease, Pompe Disease, Niemann Pick Disease) is based on the clinical features of each disease, or in some cases of a family history of the disease. We see both children and adult patients. Patients who are referred for evaluation for one of these diseases will have a full history and examination and follow-up testing to confirm or establish the diagnosis.
- Genetic Counseling: The genetic and hereditary impications of the disorders is discussed with each patient and/or family. An appointment with a genetic counselor can be made to discuss the genetic risk of being a carrier of these diseases in family members who are not affected.
- Follow-up: Affected individuals are seen regularly to monitor progression of symptoms, whether or not a treatment is currently available (or whether treatment may be available in the future).
- Specialty Referral: The program has designated subspecialists from other departments to manage symptoms specific to the individual disorders. These specialists are in the departments of neurology, hematology, bone marrow transplant, pulmonology, cardiology, nephrology, orthopedics, ophthalmology, otolaryngology, dermatology and radiology. Adult patients may be referred to collaborating physicians at the Brigham and Women's Hospital, in Boston adjacent to Children's.
- Support and Information: Literature discussing the natural history and related issues of lysosmal storage disorders is available for families to take home. We maintain close ties with various family support groups that can provide additional support and information for the families.
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