Kansas City, KS- Alicia Smith, with Hunter McDonald syndrome at age seven, later discovered she had TRAF7 disorder through cardiac genetic testing. Her condition, marked by skeletal abnormalities, brain tumor risks, and heart problems, was initially misdiagnosed.
The new diagnosis has provided better treatment direction and reduced isolation, connecting her with other affected families. Dr. Mark Wiley introduced a new telecardiology service for rural Kansas, improving access to subspecialty care. Alicia's story highlights the importance of genetic testing and the emotional impact of rare disease diagnoses. The University of Kansas Health System was also recognized as a magnet hospital with distinction for its exceptional nursing care.
Alicia Smith, patient
Alicia describes her physical symptoms, including deformed feet, dislocated hips, and severe arthritis, and mentions her mother's similar health issues.
Alicia and her mother, Maureen, suspect that Alicia's grandmother and uncle also had TRAF7 disorder, with her grandmother dying from a brain tumor and her uncle passing away at 39 with heart issues.
Dr. Shannon Hoos-Thompson, Cardiologist, The University of Kansas Health System
Dr. Shannon Hoos-Thompson, Alicia's cardiologist, discusses the importance of genetic testing in understanding and managing Alicia's condition.
She discusses the importance of managing symptoms and the role of genetic testing in understanding and treating rare conditions.
Farah Ammouri, Genetic Counselor, The University of Kansas Health System
Farah explains the genetic testing process, including exome sequencing, and how it led to the discovery of TRAF7 disorder.
She highlights the role of genetic counselors in helping patients understand and process their diagnoses, both medically and emotionally.
