Loretta Jo | Born July 4, 2017

On July 4, 2017 the happiest little sister and daughter was born.  Loretta Jo Shouse arrived on her due date weighing 8 pounds 9 ounces with no prenatal or birthing complications. She is the youngest of three girls. Over the course of her first year of life, we began to quickly notice that Loretta wasn’t meeting developmental milestones. At her twelve month well-baby doctor appointment, the MD referred her to Children’s Mercy (CMH) in Kansas City, MO.

Loretta’s medical journey began at CMH. For the next 4 years of her life she was diagnosed with Global Developmental Delay, Hypotonia, Dysphagia, Tachycardia, and Asthma. Loretta received Physical, Occupational, and Speech/Language therapies through Missouri’s First Steps Program and Early Childhood Special Education. By determination and with phenomenal support from therapists, teachers, and family, Loretta learned to sit, crawl, walk, eat, communicate, follow directions, scribble, and so much morel 

A DNA microarray was conducted by CMH when Loretta was 18 months old. It was used to determine whether Loretta’s overall DNA contained mutations. The results were normal. We were contacted in summer 2021 by a Genetic Counselor at Genomic Answers for Kids about studying Loretta’s DNA. We gave permission for the research, not expecting any diagnosis. On January 17, 2022, Loretta Jo was diagnosed with SYT1-c.928G>A or also referred to as Baker Gordon Syndrome (BAGOS) by CMH. Her diagnosis has provided us with a better understanding of her deficits and how to support her. We are thankful for the BAGOS network of families, researchers, and doctors. We will continue to participate in research that benefits individuals with BAGOS.