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      • Recorded Elective: Metabolic Causes of Encephalopathy
      • Recorded Elective: Metabolic Causes of Stroke
    • Lectures and Workshops Description
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    • Catalog of Metabolic Disease Video Links
      • Patient Video Link Catalog
  • Contact Us
  • Blog
  • Direct Patient Care
    • Testimonials
    • Services
    • Payments
    • Resources
      • Remote Second Opinions
      • Patient Assistance
      • Forms
    • Contributions
  • Physician Support Services
  • Education Services
    • Event Schedule
    • Event Details & Schedule
      • Recorded Elective: Metabolic Causes of Encephalopathy
      • Recorded Elective: Metabolic Causes of Stroke
    • Lectures and Workshops Description
    • Inservice Training Description
    • Patient Teacher Registry for Metabolic Disease
      • Request a Patient Teacher from Registry
      • Become a Patient-Teacher
    • Catalog of Metabolic Disease Video Links
      • Patient Video Link Catalog
  • Contact Us
  • Blog
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Patient Video Link Catalog

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Disease Class

Disease

Possible Talk: Patient Stories - Lina Rebeiz's Road to Medical School

Heme synthesis disorders / Acute intermittent porphyria (AIP)

Patient/family experienceSymptoms

This young woman, a pre-med student and the daughter of two doctors, describes her journey to find a cause for her symptoms. It is an informative, dramatic, and well organized story.

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Homocystinuria Patient Testimonial - Anagnostopoulos

Amino acid disorders / Homocystinuria

Patient/family experienceSymptomsDiet/treatment

Sofia was 30 years old when she had a stroke unexpectedly. Her husband talks about that event, the concern by doctors since she had no major medical issues, and how they have struggled since the diagnosis was made. Living in Greece has made their struggle particularly difficult. One can appreciate the asymmetry to Sophia’s face (facial drop on the left, left eye is open wider). The story is important for showing that the vascular complications of homocystinuria can be the presenting features, usually in adulthood.

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My Journey with Wilson’s Disease

Metal and trace element disorders / Wilson disease

Patient/family experienceSymptomsDiet/treatment

Danny’s first symptoms of Wilson disease began during adolescence. He recorded this video to tell his story, from the time of those early symptoms through until he underwent liver transplantation in his early 30s. He describes the symptoms, the challenges, and how he has coped with having this chronic disease.

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Living with Wilson Disease

Metal and trace element disorders / Wilson disease

Patient/family experienceGeneral disease overview SymptomsGenetics/genetic testing BiochemistryPathophysiologyDiet/treatment

Gina describes the symptoms that brought her to medical attention. Her doctor explains briefly the nature of Wilson disease - its pathophysiology, genetic basis, and an overview of treatment.

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Emilee Williams - Fighting Wilson’s Disease

Metal and trace element disorders / Wilson disease

Patient/family experienceGeneral disease overview SymptomsDiagnostic testing BiochemistryPathophysiology

This video provides a good overview of a young adult living with the neurologic complications of her Wilson disease. She and her doctor describe the symptoms; the text associated with the video is also informative. Her neurologic findings are evident to the viewer. Emilee’s spirit and drive to live well despite her medical challenges is inspiring.

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Behind the Mystery: Arginase 1 Deficiency.

Urea cycle defects / Arginase deficiency

Patient/family experienceGeneral disease overview SymptomsDiagnostic testing Newborn screening Genetics/genetic testing BiochemistryPathophysiologyDiet/treatmentPrognosis

This is a story of Isaiah and Angela. Isaiah was identified by newborn screening. As mother and advocate, Angela, sought out information about the disease to better understand it and her role in helping her son. We hear about their journey and the challenges they faced. A metabolic disease expert provides a fairly detailed overview of the disease, the phenotype, the biochemistry and diagnostic testing, and the available therapy options at that time.

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It's Hard To Be A PKU Patient - Lal, Turkey #LiveUnlimitedPKU

Amino acid disorders / Phenylketonuria (PKU)

Patient/family experienceSymptomsDiet/treatment

In this video, PKU patient Lal from Turkey describes (in English) her experiences living with the disease. She talks about difficulties her parents had with managing her disease as a child due to limited resources in Turkey. She briefly touches on management of her symptoms and her dietary restrictions.

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Living with a rare disease: A story of two siblings

Organic acidemias / Isovaleric Acidemia

Patient/family experienceNewborn screening Prognosis

This video highlights the stories of Stephen and Caroline, two siblings with IVA with dramatically different health outcomes. Their mother and a director at Children’s National describe how the drastic difference in their disease progression is largely due to diagnosis of the disease at birth, compared to just a few years later. The video is a promotion for The Rare Disease Institute at Children’s National Hospital.

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