A genetic disorder is a disease caused by an abnormality in the DNA. The disorder may be apparent immediately after birth or manifest as the child grows older. These disorders may be inherited from a single parent or the result of several inherited genes interacting and put under stress from environmental factors. There is a wide range of genetic diseases; in fact, it has been discovered that genetics play a role in most diseases a person develops.
The department participates in various multidisciplinary clinics including
the Craniofacial Clinic, the Differences in Sex Development Clinic, and
the Vascular Anomalies Clinic. In addition, the genetics team offers specialty
clinics for patients with Down syndrome, neurofibromatosis, and metabolic
disorders. Genetic counseling is also available. The department serves
as one of the referral centers for follow-up evaluations of patients who
have presumptive positive newborn screens with the Louisiana Newborn Screening
(NBS) Program.
The study of genetics is one of the most promising medical research areas, but we are still a long way from finding a cure for most genetic diseases. Treatment usually focuses on managing symptoms and preventing the manifestation of diseases. One of the rising treatments for genetic disorders is gene therapy which has recently been approved for a few specific disorders.
The Children’s Hospital Genetics Department team includes several licensed and board-certified genetic counselors who play a vital role in the care of our patients. Genetics counselors are healthcare professionals who have specialized education and training in medical genetics. Our team of genetic counselors helps educate patients and their families about genetic diseases and available testing options. The team will evaluate a patient’s risk of inherited conditions and help advise families about a child’s genetic condition and what medical treatments and services may be needed. In addition, the team offers supports for our patients and families as they are adjusting to a diagnosis of a genetic disease.
Our genetic counselors (from left): Christine Spaeth, MS, LCGC – Director, Genetics Counselor Services, Maryam Ijaz, MS, LCGC, and Kennedi Jones, MS, LCGCTo contact our Genetics office, call 504.896.9254. Please fax referrals to 504.896.3997.