Kansas City, KS - For 31 years, Rachel Frank believed she knew what was behind her lifelong medical challenges. But when a new doctor questioned her childhood diagnosis, advanced genetic testing revealed something remarkable. She never had the condition doctors thought she did. Instead, Rachel has an extremely rare genetic disorder that finally explains her symptoms and brings unexpected, good news about her future.
Rachel Frank, Patient
- Rachel shares what it was like to learn at 31 that the Stickler syndrome diagnosis she had lived with since childhood was wrong.
- She explains how her new diagnosis, ZNF292-related disorder, helped connect lifelong challenges involving her joints, hearing, vision and the way she processes information.
- She discusses the relief of learning that, unlike the condition she previously believed she had, her newly diagnosed disorder is not progressive in her case.
- She shares how finally having an answer has changed the way she thinks about her health.
Ken Frank, Rachel’s Father
- Ken shares his reaction to learning that the diagnosis Rachel and her family had relied on for years was not correct.
- He discusses what it has been like to support Rachel through medical challenges and the search for better answers.
Dr. Brian Muchmore, Clinical Geneticist, The University of Kansas Health System
- Dr. Muchmore explains how whole genome sequencing can uncover genetic conditions that older tests missed.
- He breaks down ZNF292-related disorder, a condition only recently linked to disease, and how it better explains Rachel's combination of symptoms.
- He discusses how rapidly advancing genetic science can provide answers today that may not have been possible even 10 years ago.
Juliana Shapiro, Genetic Counselor, The University of Kansas Health System
- Juliana breaks down Rachel's “de novo variant” and what that means for whether the genetic change was inherited from either parent.
- She explains why families who had inconclusive or normal genetic testing years ago may want to ask whether newer testing or re-evaluation could provide answers today.