To make an appointment, please call (404) 778-8565 or (800) 200-1524.

Scheduling the Appointment

  1. Call the Emory Lysosomal Storage Disease Center at (404) 778-8565 or (800) 200-1524 to schedule your appointment.
  2. An appointment for testing, a detailed assessment, recommendations for management and treatment, and any needed monitoring studies will be promptly scheduled for you.

What to Expect at Your First Lysosomal Storage Disease Appointment

Before the Visit

  1. The genetic counselor will request record release forms to gather your past and present medical records from your primary care physician andother specialists for review before your appointment.
  2. You will receive directions to your appointment and a questionnaire about your health to fill out.

    Please click here for directions and a map to our 2165 North Decatur Road location.
    Please click here for a copy of the questionnaire to fill out for a child.
    Please click here for a copy of the questionnaire to fill out for an adult.

  3. The Emory billing office will verify your insurance and benefits,please make sure at the time you make your appointment that correctdemographic and insurance information is conveyed to the scheduler.
  4. Make a list of the questions you would like to ask the Lysosomal Storage Disease Team.
  5. If needed, the genetic counselor will discuss with you any imaging,testing, or assessments to schedule at the time of your visit. If youare aware of any studies which you need, please mention them to the scheduler at the time you make your appointment.

During the Visit

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

After the Visit

  1. You and your physicians will receive a copy of your clinic letter andany recommendations to monitor your health and condition.
  2. Management of your condition will occur through the LysosomalStorage Disease Center and your current team of primary and specialist physicians.
  3. The Lysosomal Storage Disease Center will provide you with life-long, up-to-date care for your condition.
  4. 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.
  5. We are available to you and your physicians to answer any clinical lysosomal storage disease related questions.
  6. We will notify you of patient education opportunities and meetings sponsored by the Emory Lysosomal Storage Disease Center.