Rare Diseases for Children

No matter what your age, if you or a loved one live with or are at risk for congenital, heritable, familial or rare conditions, you benefit from access to a wide range of OU Health specialties that target rare and undiagnosed diseases. Services include diagnostic evaluation, testing, education and clinical services throughout your life. That means your OU Health genetics team helps you or your loved ones make a smooth transition from newborn and pediatric care to adult care.

Treatments for Rare Diseases and Conditions

Because genetic diseases make up a large portion of rare diseases, the OU Health genetics team, working with our internal medicine, nephrology, urology, neurology, cardiology, gastrointestinal, endocrinology and pediatric teams, offers you consultation in person (inpatient, outpatient) or via telemedicine for birth defects, genetic conditions and metabolic conditions, as well as newborn screening. And with multiple onsite scientific laboratories at OU Health, you can count on receiving accurate results that support your personalized plan for care and treatment.

You or your loved ones may receive consultation, care and treatment from OU Health genetics professionals for a variety of conditions, including but not limited to:

• Apicomplexan guanylate cyclase

• Ataxia, including spinocerebellar ataxia 34

• Bronchopulmonary dysplasia

• Congenital eye abnormalities

• Cystic fibrosis

• Down syndrome

• Fragile X

• Hemophilia and other hereditary coagulopathies

• Hereditary retinal degeneration

• Hypophosphatasia

• Hypoplastic left heart syndrome (HLHS)

• Inborn errors of metabolism

• Lysosomal enzyme replacement

• Muscular dystrophy

• Neurofibromatosis 1 and 2

• Neuro-ichthyotic disorders

• Phenylketonuria

• Prader-Willi syndrome

• Sickle cell anemia

• Sjögren syndrome

• Tourette syndrome

• Turner syndrome

OU Health Resources for Genetics and Rare Diseases

At OU Health, you or your loved ones living with genetic conditions and rare diseases gain access to many community-based education programs and other types of information through the HRSA-funded Heartland Genetic Services Network, pioneered by OU Health and one of seven Regional Genetics Networks in the nation. You also benefit from OU Health participation in:

• Oklahoma Birth Defects Registry, a national and local source for care and research, and other national rare disease registries

• Native American Research Center for Health (NARCH), a partnership with several Native American nations in Oklahoma

• Newborn Screening Translational Research Network that identifies, treats and follows children with rare genetic conditions

• Multidisciplinary clinics (Turner Clinic, Neurogenics Clinic, Neurocutanous/Neurofibromatosis clinic)

• OU Health infusion services