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Episode Info: Laurene Lambertino-Urquizo was born and raised in Chicago’s south suburbs, and had 3 children. She studied Art History at several universities & taught on the college level. She volunteered on a research project at Field Museum for many years bringing light to a very rare and unknown collection of Precolumbian Mexican ceramics.Laurene enjoyed a normal childhood & adulthood until reaching the age of 50 when my medical problems began. She initially began experiencing difficulty in climbing stairs and respiratory muscle weakness, which her doctors believed was due to sleep apnea. She was fortunate to have excellent health care available through the University of Chicago Health Clinics and genetic testing for disease was still in its formative years.Laurene was first diagnosed with Inclusion-body Myositis (IBM) by two biopsies and EMGs. IBM is a form of Muscular Dystrophy that mostly affects adults beginning at middle age. The muscles weaken and deteriorate over time but typically it is not a fatal disease. There is no treatment, nor cure for it.  Almost twenty years later, due to evolving medical research and technology, she underwent genetic testing which revealed a new diagnosis of having a Titin Myopathy. The Titin gene is the largest gene in the human body and variants (mutations) to it can cause muscle weakness (especially in the legs and upper arms), respiratory muscle weakness, and cardiac issues (such as Cardiomyopathy). There is no treatment, nor cure for this currently and it is treated much the same as IBM by providing supportive services.Today she lives in a house fitted for someone with limited mobility and sleep with BiPap. She leads a full life and she enjoys reading, politics, her cats, and cooking.What We Talked About:Laurene describes the road to from being diagnosed with Inclusion Body Myositis to finding the correct diagnosis of Limb-Girdle Muscular Dystrophy. Limb-Girdle Muscular Dystrophy is caused by mutations in the TTN gene.Limb-Girdle Muscular Dystrophy (LGMD) has affected the muscles around her hips leading to the inability to lift her legs. She cannot climb stairs, lift herself out of a bathtub, or get up and down from a sitting position using only her legs. She relies on upper body strength and a walker. In addition, LGMD has affected her heart and lungs, resulting in cardiomyopathy and weakened respiratory muscles.Laurene talks about what it’s like to live with a chronic disease, her daily routine, the details of a good day and a not so good day.She educates us about why we need to be well informed, get the best possible healthcare, and advocate for ourselves.Laurene advises us not to take anything for granted. She tells us why she feels fortunate to be here.She talks about specific ways in which it is difficult to maneuver going out in public spaces and why it can be limiting for people with disabilities.Laurene believes in “the squeaky wheel getting the oil” so much, that she championed an in...
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