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Genetic Disorder Services

Newborn Screening

Children’s Hospital of Michigan at is home to a lifelong follow-up and treatment program for individuals diagnosed with an inborn error of metabolism following a positive newborn screen. In Michigan, newborns are screened for approximately 50 different genetic disorders. Blood samples taken from the newborns shortly after birth are sent to the State of Michigan’s Newborn Screening Laboratory in Lansing for testing. Newborns that test positive for an inborn error of metabolism are referred to the Children’s Hospital of Michigan Metabolic Clinic, located within the Division of Genetic, Genomic and Metabolic Disorders, for confirmatory testing and, if needed, diagnosis and lifelong management.  Patients are seen at the Children’s Hospital of Michigan as well as at satellite locations in Southfield and Grand Rapids. A multidisciplinary team composed of physicians, metabolic dietitians, a genetic counselor, specially trained nurses and nurse practitioners, a social worker and psychologist work together to manage infants, children and adults with metabolic diseases.  Treatments are individualized for each metabolic disorder and may involve dietary management and/or medications.

Lysosomal Storage Disease Treatment Program (Enzyme Replacement Therapy)

The Lysosomal Storage Disease Treatment Program is housed in the Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan.  The team of geneticists, nurse practitioner and genetic counselors work closely with pediatric cardiologists, ophthalmologists, orthopaedists, pulmonologists and other subspecialists to evaluate and treat children with lysosomal storage diseases.  Affected children typically lack an enzyme responsible for metabolizing or breaking down substances in the body.  If these substances accumulate to toxic levels, multi-organ damage occurs.   If left untreated, many lysosomal storage diseases result in serious medical complications and can be fatal. Enzyme replacement therapy (ERT) involves replacing the missing enzyme through intravenous infusions.  ERT is particularly effective if started early; many symptoms can be prevented, improved and/or eliminated.  Thus, early diagnosis and treatment of lysosomal storage diseases is critical.  A comprehensive evaluation is the initial step in diagnosis and subsequent treatment.

Fetal Alcohol Syndrome Clinic

The Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan has developed a Fetal Alcohol Syndrome Clinic.  Fetal alcohol syndrome (FAS) is caused by maternal consumption of alcohol during pregnancy.   FAS is characterized by pre and postnatal growth deficiency, a distinctive constellation of facial features, and developmental and behavioral problems. Not every child exposed to alcohol during the prenatal period will have FAS, but all children who have been exposed to alcohol in-uteroare at risk to have FAS or other developmental or behavioral problems. Any child who is suspected or known to have fetal alcohol syndrome can be referred to the clinic for in-depth evaluation, counseling and follow-up care.  Prior to the initial evaluation, the caregivers are asked to complete a questionnaire about the child’s medical and developmental histories. They are also asked to send copies of previous school and/or psychological evaluations to the clinic.  During the visit the Genetics team reviews the detailed medical and developmental histories, and performs a thorough physical examination on the child to determine if he/she has the features of FAS.   Based on the outcome of the initial visit, the clinic refers families to other ancillary services and treatment and provides follow-up care as needed.

Cystic Fibrosis Newborn Screening

Cystic fibrosis has been included in the State of Michigan’s newborn screening program since October 2007.  Once an infant screens positive for cystic fibrosis on newborn screening, they are referred to one of a few sites designated by the State of Michigan, of which the Children’s Hospital of Michigan is one, to provide confirmatory diagnosis and follow-up.  At the Children’s Hospital of Michigan, every infant with a positive newborn screen has access to the appropriate diagnostic testing and genetic counseling services, which are typically offered as coordinated appointments on the same day.  If an infant is diagnosed with cystic fibrosis, the Division provides comprehensive genetic counseling services to these families to help them understand the genetics of cystic fibrosis and what it means for their children, themselves and their extended families.

Hemophilia Clinic

The Division also works with the Division of Hematology/Oncology to provide genetic services for families with hemophilia or other inherited clotting disorders.   The department works with the Hemophilia Clinic team to provide genetic evaluation and counseling services, an essential component of the comprehensive services they receive.  Extensive genetic counseling and the option of genetic testing for all newly diagnosed families is offered.  Genetic counseling services to anyone regularly followed through the Hemophilia Clinic who has specific questions regarding the genetics of hemophilia or their specific diagnosis is also provided.