The Power of Patient No. 1 – Peggy Fahed and the BBSOA Syndrome
Our student, Peggy Fahed, participated in May 2018 in the 1st International BBSOAS (Bosch-Boonstra-Schaaf Optic Atrophy Syndrome) Family Conference in Houston – Texas, as the patient No. 1 for the BBSOAS.
Common features that were we noticed among patients who have the same genetic condition are:
1) Vision impairment which varies in severity 2) Developmental delay/intellectual disability, which also varies in severity 3) Most had low muscle tone when they were children 4) High pain tolerance 5) Love of music 6) Many individuals enjoy repetition. When extreme, this becomes obsessive-compulsive behavior 7) About 40% of individuals have seizures/epilepsy
Follow the below link to know more about Peggy’s case and how she became Patient No. 1, as presented by Prof. Dr. med. Christian P. Schaaf, Professor of Clinical Genomics at University Hospital Cologne (Germany), and visiting Professor at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute, Houston (USA):
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Lorem Ipsum has been the industry's standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum.
