Contact Us! 404-793-7800

 info@vmpgenetics.com

VMP Logo
  • Direct Patient Care
    • Testimonials
    • Services
    • Resources
      • Remote Second Opinions
      • Patient Assistance
      • Forms
    • Contributions
  • Physician Support Services
  • Education Services
    • Upcoming and Past Events
    • Event Details & Schedule
      • Recorded Elective: Metabolic Causes of Encephalopathy
      • Recorded Elective: Metabolic Causes of Stroke
      • 2023.01 Organic Acidemias Online Course
      • 2023.02 Hyperammonemia (Urea cycle disorders PLUS) Online Course
      • 2023.05 Organic Acidemias Online Course
    • 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
  • Direct Patient Care
    • Testimonials
    • Services
    • Resources
      • Remote Second Opinions
      • Patient Assistance
      • Forms
    • Contributions
  • Physician Support Services
  • Education Services
    • Upcoming and Past Events
    • Event Details & Schedule
      • Recorded Elective: Metabolic Causes of Encephalopathy
      • Recorded Elective: Metabolic Causes of Stroke
      • 2023.01 Organic Acidemias Online Course
      • 2023.02 Hyperammonemia (Urea cycle disorders PLUS) Online Course
      • 2023.05 Organic Acidemias Online Course
    • 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
small microscope

Patient Video Link Catalog

Tags

Disease Class

Disease

Newborn Screening Not Always Enough for Detecting Tyrosinemia Type 1.

Amino acid disorders / Tyrosinemia type I

Patient/family experienceSymptoms

In this video, the mother of Evan (born with tyrosinemia type I) details her family’s experience in the newborn period. Evan was very ill and the journey to a diagnosis included advocacy and good luck. The particular issue with the negative newborn screen is unclear (e.g., false negative?, inadequate testing method?). It is a reminder that newborn screening is not infallible; even if a disease was tested for through newborn screening and found to be negative, medical providers should repeat testing if clinically indicated.

View Video

Alkaptonuria (AKU) a rare disease affecting joints - Denise.

Organic acidemias / Alkaptonuria

Patient/family experienceSymptomsGenetics/genetic testing

In this short video clip, an adult with alkaptonuria describes her symptoms and urges others who are affected to network to learn more about the disease.

View Video

Noah & Ruby’s story – living with GA1.

Organic acidemias / Glutaric acidemia type I

Patient/family experienceGeneral disease overview SymptomsNewborn screening BiochemistryPathophysiologyDiet/treatmentPrognosis

Ruby and Noah are two children with glutaric aciduria type 1; Noah, the older child, presented clinically with an episode of severe clinical decompensation, resulting in long-term neurologic sequelae. His younger sister, Ruby, was identified shortly after birth and treated immediately; she is growing and developing normally. The parents describe their experience of raising two children with this disease, highlighting the importance of being positive and setting goals. Three metabolic experts, two physicians and one dietitian, explain the disease, the treatment approach, and the benefit from an early identification through newborn screening and onset of therapy. Viewers can observe some of Noah’s dystonic posturing and movements.

View Video

Amirah’s Story - Living with IVA.

Organic acidemias / Isovaleric Acidemia

Patient/family experienceSymptomsDiet/treatmentPrognosis

In this video, we learn about the neonatal presentation of a patient with isovaleric acidemia. The video focuses heavily on the importance of dietary therapy and how the mother and family adjusted, developing confidence in their management over time. The importance of a multidisciplinary approach to care is evident.

View Video

BabySeq: Partial Biotinidase Deficiency

Vitamin & cofactor metabolism defects / Biotinidase Deficiency

Patient/family experienceNewborn screening Diet/treatment

The patient’s mother describes her experience in encountering her daughter’s diagnosis through newborn screening and a clinical diagnostic research study. She also mentions the treatment.

View Video

Growing Up With Galactosemia.

Carbohydrate disorders / Glut-1 deficiency

Patient/family experienceSymptoms

Nico is a young boy with GLUT1 deficiency. The video focuses on the epilepsy that Nico experienced from infancy, the parents’ emotional struggles around seeing their son suffer, and their struggle to find answers about Nico’s condition. The benefit of a proper diagnosis and treatment is obvious. This video includes some striking videos of Nico experiencing seizures in infancy and childhood.

View Video

Late-onset Pompe disease - An 18-Month Diagnostic Odyssey.

Carbohydrate disorders / Pompe disease

Patient/family experienceSymptomsGenetics/genetic testing Diet/treatment

In this video, the patient walks the viewer through her journey to find out her diagnosis of Pompe disease. She describes her symptoms, some of her diagnostic tests, and her treatment plan; she concludes by noting the impact of her treatment.

View Video

Late-onset Pompe Disease - Patient’s Story.

Carbohydrate disorders / Pompe disease

Patient/family experienceSymptomsDiet/treatmentPrognosis

The patient outlines his diagnostic journey and how he overlooked the early symptoms of the disease. He also describes the treatment he receives for Pompe disease and its impact on his functioning.

View Video
  • ← Previous
  • 1
  • 2
  • 3 (current)
  • 4
  • 5
  • Next →
VMP Genetics Dark

mailing address listed below
5579 Chamblee Dunwoody Rd
Suite 110
Atlanta, GA 30338

© 2023 VMP, LLC. All rights reserved.

www.vmpgenetics.com - website does not provide medical advice, diagnosis, or treatment
See Terms of Use and Privacy Policy