Metabolic Disease Service
Description of Services:
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Evaluation and testing for children with known or suspected inborn errors of metabolism
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Education about specific inborn errors of metabolism
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Comprehensive case management with referral to medical specialists, community resources, and support groups
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Family History analysis and genetic counseling to discuss reproductive options
Procedures Performed or Problems Diagnosed and Treated:
- Treatment for metabolic disorders
- Blood, urine, enzyme, and DNA analysis for diagnosis of inborn errors of metabolism
- Nutritional evaluation and counseling for children with inborn errors of metabolism
- Psychosocial assessment and counseling
Key Personnel and Their Special Interests:
Martha Barton, L.M.S.W. - Psychosocial Support
Gail Brookshire, M.S., C.G.C. - Genetic Counseling
Heather Herrmann, M.S., C.G.C - Genetic Counseling
Stacy Miller, M.S., C.G.C - Genetic Counseling
Lewis Waber, M.D., Ph.D. - Metabolic Disease, Genetics
Jennifer Yoon, RD/LD - Nutrition evaluation and counseling for children with genetic
disorders
Referral Requirements:
- Self-referral or healthcare professional referral accepted
- Pre-authorization is required by some insurance plans
- To avoid unnecessary testing, have the family bring relevant medical records, test results, and X-rays to the appointment.
- Services are provided in close cooperation with the patient's referring physician.
- Diagnosis, evaluation, and recommended treatment information is provided promptly to the referring physician.
Please provide the following when calling to schedule for a diagnostic examination:
- Patient name and date of birth
- Probable diagnosis
- Insurance/referral information
- Clinical findings or symptoms which caused the patient to visit physician
Physician Contact:
Lewis Waber, M.D., Ph.D.
Hospital Contact:
Heather Herrmann, M.S., C.G.C.
Clinic Phone Number: 214-456-2357
Clinic Fax Number: 214-456-2567
Children's Medical Center
Metabolism Clinic