ABSTRACT
This is the story of Ada Grashow—a loving, gentle soul touched by a rare genetic condition, Phelan–McDermid syndrome (PMS). This chapter gives voice to the Grashow family’s journey to their happy ever after.
It was during January 2015 that we had the pleasure of first meeting Ada Mae and her family, including Ada’s younger sister, Wilhelmina (Willa), and parents, Jon and Katie (See Figure 22.1). The family of four is a close-knit unit, sharing an infectious love with those around them. The lab instantly felt a strong attachment to the family, with time spent recalling stories from lands afar and playing “house.” One of these heartfelt moments was particularly striking, hitting a cord with our team. During one session, a member of our team, Caroline, sat quietly coloring with Willa. Caroline, who had recently returned from spending a holiday break with her family in Ireland—including sitting through multiple repeats of Disney’s latest hit, Frozen, with her 5-year-old niece—asked Willa if she had seen the film. After a brief pause, Willa stopped coloring. She responded that she had seen the film, and that her favorite princess was Elsa, before quickly returning her attention to the coloring task. Not providing the enthusiastic response to the mere mention of Frozen that many may be used to, Willa quietly went on to explain that it made her very sad. The story reminded her of Ada. To a young Willa, her sister Ada had been lost to her, paralleling the Frozen story line, but had never returned as Elsa had in the movie. The similarities were obvious to this young girl, and the film uniquely summarized the heartbreaking story of this family. Katie, overhearing the conversation from the lab room, confirmed that they had both watched the Disney hit together, struggling to hold back the tears and hugging each other close. Katie and Jon later explained that they have learned to avoid many mainstream TV shows and movies because the dramatic plots are too upsetting to be entertaining, given the family’s real-life experiences. Ada was 4½ years old when she became “frozen,” or regressed. This is their story.
