Genetics Northern California

Clinic Day Experience

Individuals with a metabolic disorder often have complex medical needs. The Regional Metabolic clinic offers coordinated care from a team of metabolic experts. During your clinic appointment, you are seen by the specialists from our Regional Metabolic team in private back-to-back appointments. The visit can last anywhere from 1 to 3 hours depending upon the number of specialists you see. Patients are weighed and measured at nearly every visit. Sometimes a physical exam is also performed.

The specialists will talk with you about:

  • Your family history

  • Your medical and nutritional history (e.g., symptoms, medications, lab results, diet records)

  • Any concerns you may have, such as: 
       - Your child's developmental progress and educational needs
       - Behavior issues
       - Social support 
       - Family dynamics
       - Keeping up with treatment or diet

At the end of your visit a summary of your treatment plan is put into your medical chart.

The Medical Specialities Available on Clinic Day
GC sessionWe have both medical geneticists and genetic counselors at the clinic to address genetic issues related to your metabolic condition. The geneticists help determine how to diagnose and treat each client's specific metabolic condition. They also discuss what to expect in the future and keep you updated on new treatments. 
Genetic counselors provide genetic counseling that may include:
– prenatal counseling and available testing options
– figuring out who might need genetic testing in the family
– counseling about the diagnosis or the inability to make a firm diagnosis

Clients with disorders that put them at risk for neurologic problems meet with a pediatric neurologist who checks for signs of nerve or muscle problems. If needed, special testing (e.g., EEGs, MRIs, CT scans, etc.) may be ordered.

At the clinic, registered nutritionists who specialize in metabolic disorders are available for face-to-face consultations.  Almost everyone with a metabolic disorder needs to be seen by a nutritionist. For many conditions, the nutritionist plays a major role in treatment. They review diet records to make sure you are getting enough of the foods you need to stay healthy and not too much of the foods that can cause problems. The nutritionists work with each person to help find a diet that fits the metabolic disorder and addresses personal preferences and lifestyle.

There is a nurse at the clinic to teach blood sugar monitoring and help with home blood testing. The nurse will also handle metabolic testing in clinic and may do other studies to check for nutritional problems caused by the restrictive metabolic diets.  Testing might include vitamin D studies, a complete blood count, and essential fat testing. The nurse also checks the development of the younger patients. This assessment helps guide the clinic team as they are developing a treatment plan. 

Social Services 
There are many emotional and social challenges that might be faced by a person with a metabolic disorder and their family members. Our social workers offer support to help you and your family as you adapt to the demands of having a metabolic disorder. Feelings, behaviors, and needs differ from person to person and can change over time. For parents, it may be hard learning how to accept a child with special needs. Sometimes a client or family will have a need for counseling with a psychologist. Other times they will need the help of a social worker to apply for special programs such as California Children's Services (CCS), Regional Center, SSI, and MediCal. Our team will help you and your family find the resources to help meet your needs.

Last reviewed: July 2015
Reviewed by: KP Regional Metabolic Coordinators