Heme synthesis disorders / Acute intermittent porphyria (AIP)
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.
Amino acid disorders / Homocystinuria
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.
Metal and trace element disorders / Wilson disease
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.
Metal and trace element disorders / Wilson disease
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.
Metal and trace element disorders / Wilson disease
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.
Urea cycle defects / Arginase deficiency
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.
Amino acid disorders / Phenylketonuria (PKU)
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.
Organic acidemias / Isovaleric Acidemia
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.