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Schedule Your Appointment

Call 404-778-8565 or 800-200-1524.

What to Expect at Your First Lysosomal Storage Disease Appointment

Before Your Appointment

  • The genetic counselor will request record release forms to gather your past and present medical records from your primary care physician and other specialists for review before your appointment.
  • You will receive directions to your appointment and a questionnaire about your health to fill out.
    • Directions
    • Pediatric questionnaire
    • Adult questionnaire
  • The Emory billing office will verify your insurance and benefits, please make sure at the time you make your appointment that correct demographic and insurance information is conveyed to the scheduler.
  • Make a list of the questions you would like to ask the Lysosomal Storage Disease Team.
  • If needed, the genetic counselor will discuss with you any imaging, testing, or assessments to schedule at the time of your visit. If you are aware of any studies which you need, please mention them to the scheduler at the time you make your appointment.

Directions Pediatric Questionnaire Adult Questionnaire

During Your Appointment

  • You will have your weight, height, temperature, and blood pressure taken.
  • The genetic counselor will review your health history, family history, and discuss the genetics of lysosomal storage diseases with you.
  • The medical geneticist will review the information provided to the genetic counselor, do a physical exam, discuss treatment options (including the availability of enzyme replacement therapy and any other treatments), and answer any questions you have.
  • Any laboratory tests needed will be drawn at the time of appointment if insurance allows.
  • If scheduled, monitoring imaging and assessments may occur after the appointment.

After Your Appointment

  • You and your physicians will receive a copy of your clinic letter and any recommendations to monitor your health and condition.
  • Management of your condition will occur through the LysosomalStorage Disease Center and your current team of primary and specialist physicians.
  • The Lysosomal Storage Disease Center will provide you with life-long, up-to-date care for your condition.
  • If you wish to begin enzyme replacement therapy and it is available, the Lysosomal Storage Disease Center will facilitate and coordinate your infusions as needed.
  • We are available to you and your physicians to answer any clinical lysosomal storage disease-related questions.
  • We will notify you of patient education opportunities and meetings sponsored by the Emory Lysosomal Storage Disease Center.

Patient Care
  • Adult Genetics Clinic
  • Down Syndrome Clinic
    • Appointments
    • Resources for Families
    • Frequently Asked Questions
  • Fragile X
  • Genetic Clinical Trials Center
  • Genetic Counseling
  • Jscreen Jewish Genetic Testing
  • Emory Lysosomal and Peroxisomal Storage Disease Center
    • Appointments
    • Lab Testing
    • Dr. Paul M. Fernhoff Memorial Endowment VIRTUAL Duck Race
  • Newborn Screening
  • Metabolic Genetics Clinic
    • Nutrition Services
    • Educational Resources
  • Pediatric Genetic Evaluations
  • Skeletal Disorders
  • Physicians, Genetic Counselors and Metabolic Dietitians
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