Carbohydrate disorders / Pompe disease
In this video, Haley and her mother describe their experience with Pompe disease, from dealing with heart failure in infancy to embracing adolescence; it also showcases Haley’s vibrant personality. The hypernasality that occurs in this disorder is obvious. A metabolic expert describes her impression of Haley’s course and the importance of early diagnosis via newborn screen to achieve the best possible therapeutic outcome in Pompe disease.
Carbohydrate disorders / Pompe disease
Sean and Cheryl discuss their experiences in having felt some symptoms of late-onset Pompe disease, and then being diagnosed, emphasizing the importance of family testing to empower awareness and support.
Fatty acid oxidation, carnitine, ketone metabolism defects / Long chain hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
Jake’s mother describes their journey with LCHAD deficiency and the care he needs for management at home and in the outpatient clinic. She outlines several day-to-day issues like feeding/diet, taking his medications, and healthy exercise. She also explains that Jake’s autism is more visible to others around him; by contrast, his LCHAD deficiency is more “hidden.”
Fatty acid oxidation, carnitine, ketone metabolism defects / Long chain hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
In this video, Will and his mother describe a day in the life of a patient/family with LCHAD deficiency. They, along with some two experts, provide an overview of the disorder, and note the importance of newborn screening in identifying these patients.
Fatty acid oxidation, carnitine, ketone metabolism defects / Medium chain acyl CoA dehydrogenase (MCAD) deficiency
In this video, the experience of a family whose son is identified through newborn screening is portrayed. The mother and the clinic NP provide an overview of the condition’s pathophysiology and treatment.
Urea cycle defects / Ornithine transcarbamylase (OTC) deficiency
This is a highly dramatic and informative video hosted by the mother of a teenage daughter who died from an undiagnosed urea cycle disorder. Two doctors from Baylor University provide helpful medical information about hyperammonemia and urea cycle disorders. This addendum is important to note: the patient died without the final diagnosis being known. Her parents donated her organs after death. The man who received her liver and kidney died some days later in a hyperammonemic coma. Studies then performed on the transplanted liver confirmed the diagnosis of OTC deficiency.
Carbohydrate disorders / Galactosemia
This video focuses on Everett, a 4 year old boy with galactosemia, and his family. He became very ill as an infant, and the video details the importance of newborn screening in identifying the diagnosis quickly in order to begin lifesaving treatment and prevent the serious and potentially lethal effects of untreated galactosemia. Aspects of therapy are discussed, as well as the importance of social support for this chronic disease.
Carbohydrate disorders / Glycogen storage disease type I
This pair of videos focuses on Jerrod and Andrew, two patients with glycogen storage disease (GSD) type I. In video A, a metabolic expert explains the pathophysiology of GSD type I, the basis behind conventional therapy, and the potential impact of gene therapy, if effective. Jerrod, a patient, describes clearly the burden of the disease and its therapy, physically and emotionally, and expresses his hope for this new experimental (gene) therapy. In video B, Jerrod and Andrew, another GSD patient, describe the impact of the experimental intervention one year later, and the metabolic expert gives his perspective as well.
(address below links to the first video)