A four-year-old girl, initially told by doctors that she would never walk, has astonished everyone by taking her first steps. Scottie Mae Blair was diagnosed as an infant with Angelman syndrome, a rare genetic disorder that leads to significant physical and cognitive challenges. Her parents were informed that she would likely be unable to walk, talk, read, or live independently.
However, just a year later, they received surprising news from her medical team: Scottie Mae had been misdiagnosed. At two years old, she was correctly identified as having DUP15q syndrome, a related but less severe condition. This new diagnosis raised hopes that she could achieve developmental milestones sooner than expected.
Her mother, Logan from Tucson, Arizona, expressed her joy at witnessing Scottie Mae’s first steps: “Seeing her take her first steps felt so good—like seeing all the work paying off.” While the family celebrated with cheers and excitement in the background, Logan found herself in tears of happiness. “Her sisters are going crazy; they are her biggest cheerleaders and want to see her succeed.”
Scottie Mae’s journey has not been without challenges. She began experiencing seizures at just ten months old, which alerted her parents to potential health issues. Logan vividly remembers the day of Scottie Mae’s first seizure: “We went to the ER… She ended up having more than 100 just in that day.” After numerous tests and hospital visits, the family has learned to cherish small victories.
Considering their initial diagnosis, Logan recalled how overwhelming it felt: “Everything seemed dark and I had it stuck in my head that she would not be able to accomplish these milestones.” Over time, they adapted to the challenges presented by Scottie Mae’s condition and found a rhythm in managing her care.
With the new understanding of her condition, they recognized that it would take more time for Scottie Mae to develop compared to typically developing children. For the past three years, she has participated in four different types of therapy each week. Logan noted that having a supportive physical therapist who believes in Scottie Mae’s potential has made a huge difference in her progress.
Thanks to medication, Scottie Mae’s seizures have become less frequent and are now under control. With the milestone of walking achieved, new possibilities have opened up for her family. “This changes everything!” Logan exclaimed. They look forward to the day when they can confidently let Scottie Mae walk independently.