How are children with neurogenetic conditions treated?
Most neurogenetic disorders do not have specific treatments or cures. Making a precise diagnosis is important to understand the underlying cause so that future treatments can be offered, when they become available. In addition, knowing the diagnosis can help to counsel families about future children. Understanding the diagnosis allows doctors at Children’s Hospital Colorado to focus on ensuring the best possible quality of life for our patients.
Why choose Children’s Hospital Colorado for a neurogenetic evaluation?
Parents choose our Neurogenetics Diagnostic Clinic because of the level of expertise, professionalism and care shown by our clinicians. At Children’s Colorado, we provide leading-edge diagnostic technology alongside expert healthcare providers who are uniquely trained in caring for kids and their families.
We also offer opportunities for patients who meet specific requirements to participate in research with the goal of improving diagnosis and treatments for these complicated conditions.
About the Neurogenetics Diagnostic Clinic
The Children’s Colorado Neurogenetics Diagnostic Clinic was formed in 2011. We work with patients who have brain malformations, intractable (uncontrollable) epilepsy or progressive neurodegenerative disorders.
Our multidisciplinary team is comprised of two board-certified genetic counselors, a clinical geneticist and a pediatric neurologist.
Your visit to the Neurogenetics Diagnostic Clinic
Before your appointment, the counselors and physicians in the Neurogenetics Diagnostic Clinic will review your child’s medical records. At the start of your appointment, you will meet with a genetic counselor who will review your child’s medical history in order to confirm accuracy of information and collect other medical information.
Our physicians will then meet with you and your child to perform a physical exam, discuss additional history and answer your questions. Based on the medical history and physical examinations, our specialists will share their recommendations for additional diagnostic testing and outline a treatment plan.
What happens after a visit to the Neurogenetics Diagnostic Clinic?
After the clinic, you and your primary care provider will receive a detailed letter with recommendations for treatment, test and therapies from our providers. Our genetic counselors will work with you and your primary care physician to complete the recommendations listed, including seeking insurance approval if required.
Our genetic counselors will also discuss with you the genetics of the disease, the recurrence risk for future pregnancies and help identify other family members who may be at risk. They’ll also help to provide support to your family and help you find available resources in the community.
How to make an appointment at the Neurogenetics Clinic:
Please have your primary care provider or doctor at Children’s Hospital Colorado contact the clinic coordinator at 720-777-3697.