The Rare Genetic Disease Program at Cincinnati Children’s is staffed by a specialized team of healthcare providers.
We are doctors, genetic counselors, nurses and researchers with expertise in the diagnosis and management of rare genetic diseases.
What to Expect
Families affected by rare diseases can feel very alone. You may never meet a person with the same disease that you or your loved one has.
It can be difficult to find information on the disease, and your family or local physician may not have answers to all your questions.
Our care team includes experienced providers who meet with you to share expertise on rare diseases and help you feel less alone.
Planning an Appointment
You can connect directly with our team to help schedule a visit to the Rare Genetic Disease Program. We can provide you with maps, local hotel information, and a schedule of the evaluation.
We will help coordinate appointments if you or your loved one needs to see more than one specialist.
We will work with you to obtain medical records prior to your appointment so we can review them and be prepared to meet you or your loved one at your point in the medical journey.
We will make every attempt to make your visit to Cincinnati as comfortable and simple as possible.
During an Appointment
You will meet with multiple members of the care team at a visit.
A genetic counselor or nurse will review and collect detailed information about you or your loved one’s health and take a pedigree (a medical family tree).
An expert physician will perform a physical exam, discuss your diagnosis in detail, and develop an individualized care plan for you or your loved one. See Conditions We Treat.
Your discussion with our team may include genetic testing, referrals, coordination with your local providers, clinical management options, and research opportunities.
If you or your loved one is interested in research, you will meet with or be referred to one of our skilled clinical research coordinators.
After an Appointment
Our team will remain an available resource for you and your family or local physician after we meet with you.
We can be contacted through MyChart, email and phone to align with whatever works best for your family.
We can provide printed and online resources to help better understand the rare disease that you or your loved one has.
Our team is here as a resource for both expected and unexpected concerns that impact you or your loved one.
Help with Access to Medications
If your rare disease has a medication available, the Rare Genetic Disease Program can help you get access and address barriers to treatment.
Genetic Testing for Yourself or a Family Member
The Rare Genetic Disease Program at Cincinnati Children’s uses state-of-the-art genetic testing to provide clinically relevant laboratory results. The Cincinnati Children’s Genetics and Genomics Diagnostic Laboratory is certified by the College of American Pathologists (CAP) and the Clinical Laboratory Improvement Amendments (CLIA).
The Rare Genetic Disease Program genetic counselors are available to discuss genetic testing options, potential results, limitations of testing, and insurance coverage with you.