What types of neurometabolic disorders do we treat?
At the Neurometabolic Diagnostic Clinic, we evaluate patients with leukodystrophy, severe medically refractory seizures, neurodegeneration or developmental regression, abnormal movement, or active neurologic disease with suspicion of mitochondrial disorders, storage disorders or neurotransmitter disorders.
How are neurometabolic disorders treated?
Most neurometabolic 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 may also help to provide genetic counseling for families to help with 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 child with neurometabolic disorders?
Our multidisciplinary team is made of board-certified genetic counselors, biochemical geneticists and a pediatric neurologist. Currently, we are the only hospital in the region with the diagnostic capability and extensive experience in evaluating patients born with neurometabolic disorders.
What to expect from your visit to the Neurometabolic Diagnostic Clinic
Before your appointment, our counselors and physicians will review and summarize your child’s medical records.
During your clinic visit, you’ll meet with a genetic counselor who will review your child’s medical history with you.
Our physicians will then perform physical examinations, record additional medical history information and answer your questions. Based on the medical history and physical examinations, we’ll share our recommendations for additional testing and outline a plan for diagnosing your child.
What happens after a visit to the Neurometabolic Diagnostic Clinic?
After the clinic, you and your primary care provider will receive a detailed letter with recommendations 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 risks 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.