Your Visit | Overview
Through a collaborative approach, the Neurometabolic Program team strives to provide a comprehensive care plan that is unique to each child’s medical and developmental needs. Each child is seen by both Irina Anselm, MD, and Gerard T. Berry, MD, as well as genetic counselors who work to find the right diagnosis and tailor a treatment plan. We work closely with a variety of specialties including cardiology, genetics, endocrinology, hematology, gastroenterology, and orthopedics.
Evaluating your child’s symptoms
Making an accurate diagnosis may require children to have a number of different tests including:
- biochemical tests on blood, urine, and/or spinal fluid
- genetic testing
- muscle or skin biopsy
- MRI of the brain and/or spine
- other specialized tests
We help to coordinate any necessary tests, and most of them can be performed here at Boston Children’s Hospital.
Prior records are very helpful to us in evaluating your child, especially if sent ahead of time. These can include:
- letters from specialists seen outside Boston Children’s Hospital
- results from any developmental assessments of the child
- results from any genetic or other testing that may have been done outside Boston Children’s Hospital
Records can be faxed to 617-730-0285, or mailed to us at:
Boston Children’s Hospital
300 Longwood Ave., Fegan 11
Boston, MA 02115
Managing your child’s condition
Because neurometabolic disorders are so varied and no child has the same symptoms, we work closely with families to develop an individualized care plan that takes both medical and developmental needs into account. This may include follow-up within the Neurometabolic Program as well as consultation and follow-up with other specialists. If at any time an inpatient stay is needed, our team will follow children during their stay.
We also work closely with Boston Children’s Hospital’s Manton Center for Orphan Disease Research, which is working to discover the genetic causes of many rare disorders. We sometimes refer patients there for whole-exome or whole-genome sequencing or offer the opportunity to join a research study.