During the first few weeks of her life, Sadie’s parents noticed that she wasn’t meeting growth milestones. After several visits with her pediatrician and other specialists, she was ultimately admitted to a local children’s hospital where she underwent multiple tests to determine the cause. “They found an ovarian torsion that had caused a large mass in her abdomen that was removed during emergency overnight surgery,” shares Sadie’s mother, Ashley. “We hoped that surgery would be the end of the road for her medical complexities, but it turned out to be only the beginning. While she was still in the hospital, she was also diagnosed with torticollis, and upon further orthopedics follow-ups, it was realized that she had both hip dysplasia and scoliosis. Due to the number of diagnoses she had already accumulated within her first six months of life, she was referred for further genetic testing. A whole exome sequencing […]
