Patient Video Link Catalog
Patients Talk about the Pain of Acute Hepatic Porphyria (AHP) - OLD
Heme synthesis disorders / Acute intermittent porphyria (AIP)
In this video, several individuals living with different types of acute hepatic porphyria (acute intermittent porphyria, hereditary coproporphyria) describe the agony of the pain that characterizes a porphyria attack.
Tracy Yelen AIP Patient Story.
Heme synthesis disorders / Acute intermittent porphyria (AIP)
In this video, the patient describes her family’s experience with AIP and her journey to diagnosis once symptoms became manifest in her, symptoms that were intermittent and both physical and psychological in nature. She discusses the benefits from therapy, the importance of social support, and having access to clinicians knowledgeable about AIP.
Desiree Lyon - AIP Patient Story.
Heme synthesis disorders / Acute intermittent porphyria (AIP)
Desiree is an adult patient with AIP who has had severe symptoms since her teenage years. Her diagnostic odyssey occurred over several years and she describes the challenges in getting to a diagnosis - clinicians would not believe her because the symptoms could be intermittent and regular testing showed no problems. She also discusses what strategies have helped her maintain as normal a life as possible.
Try, try, and try: my porphyria fight | Sue Burrell | TEDxUniversity of East Anglia
Heme synthesis disorders / Acute intermittent porphyria (AIP)
In this moving TEDx Talk, Sue describes her experience of living with a severe form of acute intermittent porphyria. She discusses the acute and chronic symptoms, some of the possible complications that have affected her and her sister, the complexity of her treatment, and the way the disease has altered the course of her personal and professional life. She also speaks about her struggles to achieve her dream of becoming a mother.
Ania (UK) - Living with Acute Intermittent Porphyria.
Heme synthesis disorders / Acute intermittent porphyria (AIP)
Ania describes her experience with AIP... her family history of AIP, the nature of her attacks, the impact on her life. She describes herself as energetic, fun and bubbly between attacks; when she is sick, she calls herself “unrecognizable.” Ania talks about the importance of social support and her hopes for the future. Some text at the beginning of the video provides a brief overview of AIP.
Mary (USA) – Living with Acute Intermittent Porphyria - OLD
Heme synthesis disorders / Acute intermittent porphyria (AIP)
In this personal story, a patient describes how acute intermittent porphyria has severely impacted the course of her life, and notes the more prominent symptoms (especially pain) and the fear that it might recur. She talks about her struggle to re-introduce meaning into her life.
Kelly Heger Discusses Aromatic L-amino Acid Decarboxylase (AADC) Deficiency.
Neurotransmitter metabolism defects / Aromatic L-amino acid decarboxylase deficiency
Kelly, the mother of a child with AADC deficiency, provides a detailed overview of the symptoms of the disease and the underlying pathobiochemistry, and describes the early course of the disease in her daughter.
9-Year Old Shares His Story of Living with Cystinosis, a Rare and Incurable Disease.
Amino acid disorders / Cystinosis
This video is a talk show-style interview featuring a young patient living with cystinosis and his father. The video provides a brief description of early symptoms and the road to diagnosis. This patient’s father gives a concise explanation of disease pathophysiology, progression, symptoms, and prognosis. The patient’s father states the cystine accumulates in the white blood cells (and measuring that is one way to make a diagnosis), though it should be noted that cystine accumulates in many different body tissues in affected patients, resulting in multi-systemic disease.