Patient Video Link Catalog
Your Healthy Family: What is Cystinosis?
Amino acid disorders / Cystinosis
This video is a local news story that highlights the experience of three brothers living with nephropathic cystinosis. The patients’ father discusses the family’s experience. A pediatric nephrologist details the genetics of the disease, the basic pathophysiology, and the early signs of the disease.
Growing Up ‘Allergic to the Sun’ - Erythropoietic Protoporphyria.
Heme synthesis disorders / Erythropoietic protoporphyria (EPP)
This short video does not make clear the symptoms that occur with EPP but being “allergic to the sun” clearly compromises Savannah’s life. She and her mother describe the measures they take to make sure she can do what she loves and enjoy life as much as possible, despite her diagnosis of EPP.
Homocystinuria Parent Testimony - Elizabeth and Don.
Amino acid disorders / Homocystinuria
These parents discuss the late-onset presentation of their son with HCU. was diagnosed late with HCU. They describe some of the challenges associated with caring for a child with HCU (e.g., the very regimented treatment plan, and also express their fears (fear of the unknown) and hopes for their child’s future.
Krabbe disease – Tom’s story.
Lysosomal storage diseases / Krabbe disease
In this video, the parents of Tom, a child with Krabbe disease, share their experience of coping with Tom’s diagnosis and eventual demise.
Family of Boy with Krabbé Disease Takes Life a Day at a Time.
Lysosomal storage diseases / Krabbe disease
These parents describe the early signs of Krabbe disease in their son, Elias. They detail the shock of the diagnosis and the initial heartbreak they felt, as well as the gratitude they feel for the lessons that life with a medically complicated child has taught them.
Three-Year-Old Boy Living with Menkes Disease.
Metal and trace element disorders / Menkes disease
Evan has Menkes disease, diagnosed at six months of age. This video focuses on his mother’s journey of adjustment and acceptance around her son’s diagnosis/prognosis.
Menkes Disease Finding Help & Hope 5 min 2017
Metal and trace element disorders / Menkes disease
This video follows the experience of one family in which the child was diagnosed too late for effective therapy to work effectively. Throughout the video, clinicians and researchers discuss the symptoms, pathophysiology, treatment and prognosis of the disease.
It's Hard To Be A PKU Patient - Lal, Turkey.
Amino acid disorders / Phenylketonuria (PKU)
PKU patient Lal in Turkey describes (in English) her experiences living with the disease - some symptoms, coping with being different, the inner strength she gets from her PKU. She talks about the challenges PKU patients face due to the limited resources for PKU patients in Turkey.