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Prader-Willi Syndrome: A Caregiver's Perspective

Kelly Guillo, Board Member of the Prader-Willi Syndrome Association in Georgia, discusses Prader-Willi syndrome (PWS) from the perspective of a caregiver. PWS is a rare genetic condition that affects many parts of the body but its most dominant symptom is overwhelming hyperphagia. Infants with PWS also have severe hypotonia, feeding difficulties, slow growth, short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. As noted earlier, the most prominent and debilitating symptom of PWS is hyperphagia, a chronic, intense, and insatiable feeling of hunger. This symptom in particular causes a variety of challenges in the everyday lives of patients and their families. Some of these challenges include: Persistent talking about or seeking food Bargaining, manipulating, or sneaking behavior to obtain more food Emotional distress when denied food Foraging or stealing food Risk of extreme overeating, leading to severe and life-threatening issues like gastric rupture In addition to being a board member of the Georgia PWSA, Mrs. Guillo is also the parent of a daughter, Clementine, who has PWS. She shares how she and her family navigate life with PWS and how important it is to find a community of people who have been through similar experiences. This found community is a key element of the PWSA and their work of support and advocacy for patients with PWS and their families. Chapters: Introduction 00:00 Prader-Willi Syndrome Overview 00:54 Family Impact of Diagnosis 4:56 Advocacy Groups 6:55 Treatment Options and Clinical Trials 7:47 Measuring Hyperphagia 9:51