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Erin was born by C-section after a problematic pregnancy. She appeared to be a healthy baby, but had a weak cry at birth. Nurses in the neo-natal unit detected a strong heart murmur and Erin was placed on monitors. Hours after she was born, her dad, sister and I received the news that Erin most likely had DiGeorge Syndrome, and needed open-heart surgery. She was 5 days old when surgeons at University of Chicago’s Children’s Hospital repaired the large hole in her heart and her interrupted aortic arch. Definitive genetic testing confirmed the diagnosis of 22Q. We learned a lot in the first few years of Erin’s life. She required another open-heart surgery before she was 6 months old. She was fairly isolated because of her repressed immune system, another hallmark of the deletion. She received physical and occupational therapies as well as speech therapy to teach her to overcome a VPI, that impaired her ability to speak. We all learned sign language. In early childhood she needed custom-made orthotics, and later developed scoliosis. She wore a full brace 23 hours a day for years. It became severe enough that months after her 10th birthday she underwent spinal fusion surgery to correct the curvature. She continues to see a therapist to overcome psychosocial issues, ADD and some OCD behaviors. Erin is now a teenager. She has a boundless energy and vitality. She is affectionate and funny. She enjoys playing and building with Lego’s. She is a devoted fan of all things Star Wars. She also has an innate talent for playing the piano and is anxious to begin regular lessons.

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