Amino acid disorders / Phenylketonuria (PKU)
This is an historically significant and dramatic video that discusses the role of Dr. Harry Waisman at the University of Wisconsin in contributing to PKU history, as told by one of his patients (one of the first PKU patients treated in the US) and two providers in the university clinic.
Amino acid disorders / Maple syrup urine disease (MSUD)
This brief video gives a brief overview of MSUD, and the challenges to parents/patients about treatment, like maintaining a strict diet, close medical monitoring, and a disciplinary approach to health care.
Amino acid disorders / Maple syrup urine disease (MSUD)
Grayson’s parents describe well the feelings and challenges around raising a child with a rare disease, like maple syrup urine disease. A medical professional describes the basic pathophysiology of the disease, while Grayson’s parents discuss the challenges of managing his diet. Grayson was also born with a heart defect that needed surgical repair (unrelated to the MSUD); a few comments in this video refer to the heart defect (e.g., regarding the prenatal ultrasound) and not the metabolic condition.
Organic acidemias / Propionic acidemia (PA)
This video shows the story of a family who had twins born with neonatal-onset propionic acidemia. It describes their struggle and grief, but includes hope about the possibility of a new therapy for this disorder.
Organic acidemias / Propionic acidemia (PA)
This clip begins with a general overview of propionic acidemia/organic acidemias, including its symptoms and prognosis, and continues with a description of the Organic Acidemia Association. The last part of the video describes Moderna’s research efforts and collaboration with the patient community.
Amino acid disorders / Maple syrup urine disease (MSUD)
These informative videos offer a peek into the early life of Habul, a baby with maple syrup urine disease, at two different times – in early infancy and again a year later. The mother, along with a number of Habul’s providers, describe the disease severity and complexity, and portray the multi-dimensional approach needed to manage a child with a genetic metabolic disease
(address below links to first video)
Amino acid disorders / Tyrosinemia type I
This video is a talk show-style interview with the parents of a child diagnosed with tyrosinemia type I and a genetic metabolic expert. The clip showcases the family’s journey from newborn screening to the diagnosis to the creation of a disease foundation. A physician expert provides some scientific background on the disease and its treatment, and discusses the role of newborn screening in identifying patients.
Amino acid disorders / Tyrosinemia type I
This video showcases the history of several young patients with hepatorenal tyrosinemia and the impact of the disease on their families. The patients’ mothers talk about their early symptoms and struggles prior to starting therapy; a treating liver specialist provides a medical perspective on the children’s condition.