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Patient Teacher Registry for Metabolic Disease

INTRODUCTION

At one time, patients were a primary source of learning. Sir William Osler wrote in the 19th century, “To study the phenomena of disease without books is to sail an uncharted sea, whilst to study books without patients is not to go to sea at all…”

Since the 1970s and with the expansion of technology, most clinical teaching moved into the conference room. This is unfortunate because patients and their family members can be highly effective teachers. They talk about symptoms, their diagnostic odysseys, about living with their diseases, and about feeling isolated. They recall the challenges of navigating a complex medical system. Whereas doctors lecture about facts and describe clinical cases, patients and families have lived an often-poignant narrative, and the research is clear - storytelling is a very effective teaching tool.  People remember stories better than they do facts.

VMP Genetics believes that clinicians are more likely to recognize a patient with a metabolic disorder if they have already seen or heard about such a case before.

A PATIENT-TEACHER REGISTRY FOR METABOLIC DISEASE

This resource is intended for educators and clinicians who want to enhance their teaching about genetic metabolic disorders by including the patient voice and perspective, whether it is a live presentation, in-person or remote (this site), or a recorded video clip (see our companion site “Patient Video Link Catalog”).

These individuals wish to participate in the teaching process. They have medically confirmed diagnoses, or they are the parents or family members of the patients. They are seasoned speakers (having spoken to medical audiences before), or they have been coached to speak in a story format to better engage an audience.

Patient-teachers do not expect payment for their presentations but reimbursement for incidental expenses (for parking, or for travel for engagements that are farther away) is appropriate.

You can find these “patient-teachers” by diagnosis or by geographical location. However, to protect their privacy in this process, we ask that you fill out a request through VMP and VMP will have the patient-teacher make the connection with you. Once that happens, it is up to you to make the arrangements around the speaking event.

Disease groupings and diseases:

Amino acid disorders:
  • Homocystinuria (HCU)
Urea cycle defects:
  • Ornithine transcarbamylase (OTC) deficiency
Organic acidemias:
  • Propionic acidemia (PA)
  • Methylmalonic acidemia (MMA)
  • L-2-hydroxyglutaric aciduria
  • D-2-hydroxyglutaric aciduria
Fatty acid oxidation defects:
  • Medium chain acyl CoA dehydrogenase (MCAD) deficiency
  • Very long chain acyl CoA dehydrogenase (VLCAD) deficiency
  • Long chain hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
  • Carnitine palmitoyltransferase (CPT) II deficiency
  • Carnitine update defect (CUD)
Carbohydrate disorders:
  • Glut-1 deficiency
Lysosomal storage diseases:
  • Metachromatic leukodystrophy (MLD)
  • Fabry disease
  • Pompe disease
Peroxisomal disorders:
  • X-linked adrenoleukodystrophy (xALD)
Disorders of vitamin metabolism
  • Hypophosphatasia (B6)
Disorders of porphyrin metabolism:
  • Acute intermittent porphyria (AIP)
Other disorders:
  • Tango II metabolic encephalopathy and arrhythmias

Click here if you are an educator and wish to request a Patient-Teacher

Click here if you wish to be listed in the Patient-Teacher Registry

Your comments are welcome. VMP takes seriously the feedback coming from our colleagues and collaborators.

VMP acknowledges the engergy and dedication of all patients and caregivers who seek to raise awareness about rare diseases.

For more information about the Patient-Teacher Registry, please go to our Contact page and send us a message. We will respond shortly.