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There are many ways you can help children and their families get the care they need.
The Metabolism Program at Boston Children’s Hospital provides multidisciplinary support to individuals with metabolic disorders. A nutritionist, nurse practitioner, genetic counselor, psychologist, social worker, and team of dedicated physicians work together to develop care plans that meet the medical and emotional needs of each child as well as the family’s need for support and information.
Diagnosis for metabolic disorders is based on a comprehensive review of medical, developmental, and family history, physical evaluation, as well as specific biochemical testing. To avoid delays, most of the lab tests are done on-site in the Boston Children's Biochemical Diagnostic Laboratory
Metabolic disorders can often be a challenge to diagnose since physical signs and symptoms of disease may not be present at birth. Newborn Screening is a testing procedure that was developed to identify these “hard to detect” metabolic disorders in newborns.
Our comprehensive treatment focuses on all aspects of metabolic diseases, including: genetic testing,, diagnostic and carrier testing, medical management, developmental outcome, dietary management, and supporting patient and family needs.
The key factors in our approach to treatment at Boston Children's include:
We believe that all children with metabolic disorders deserve to feel empowered and be able to reach goals. Our dedicated focus on a pediatric population, along with our access to resources throughout Boston Children's Hospital, allows us to provide the highest quality treatment to children.
Newborn Screening is a critical, state-mandated testing procedure used to identify potentially life-threatening metabolic disorders in newborns before signs and symptoms of disease begin. This screening test is important because the earlier these disorders are identified, the less likely a child will have long-term problems or irreversible complications.
The Metabolism Program at Boston Children’s Hospital has access to the New England Newborn Screening Program, one of the best Newborn Screening programs in the world. Under this program, every baby born in New England is tested for more than 30 genetic, endocrine and metabolic disorders. PKU screening of the newborn, now conducted throughout the world, began in this program in 1962.
Although screening tests are mandatory in all states, not all states screen for the same disorders. To find a comprehensive list of what disorders your state screens for, visit the National Newborn and Genetics Resource Center.
When the baby is about 2 days old, a small sample of blood is taken from the baby’s heel. This blood sample is put on a special piece of paper and sent to the New England Newborn Screening Program for analysis. If the test results are positive, the baby will be sent to the proper treatment center.
The majority of babies who test positive in New England are sent to the Metabolism Program here at Boston Children’s Hospital. To confirm the diagnosis, we obtain a fresh sample of blood and a urine specimen and send them to our Boston Children's Metabolic Laboratory. When a positive diagnosis is confirmed, our entire medical team will immediately begin comprehensive treatment.
Read "Follow-up to Newborn Screening Guide: For Parents" for more information on newborn screening and metabolic disorders.
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