Kansas City, KS-Dr. Steve Stites, Chief Medical Officer at the University of Kansas Health System, discussed the designation of the University of Kansas Health System, Children's Mercy, and the University of Kansas Medical Center as Nord Rare Disease Center of Excellence.
This designation emphasizes multi-disciplinary care, expertise, patient and family engagement, and institutional commitment to rare diseases.
Alicia Smith, diagnosed with Hunter McDonald syndrome as a child, later discovered she had TRAF7, a condition defined in 2019. The Nord designation aims to expedite accurate diagnoses and improve treatment options for rare disease patients. The conversation also touched on the importance of genetic testing and the impact of new gene discoveries on patient care.
Alicia Smith, patient
- Alicia Smith, diagnosed with Hunter McDonald syndrome as a child, recently learned she actually has TRAF7.
- She reflects on the emotional impact of learning her diagnosis was incorrect and the life-changing nature of the new diagnosis.
Dr Steve Stites, Chief Medical Officer, The University of Kansas Health System
- Dr. Steve Stites explains the significance of rare diseases, noting that 25 to 30 million Americans live with a rare disease, defined as affecting fewer than 200,000 people.
- He emphasizes the importance of early diagnosis and treatment, linking the right gene to the right therapy.
Shobana Kubendran, Genetic Counselor and Manager of Genetic Counseling, The University of Kansas Health System.
- Shobana Kubendran discusses the evolution of genetic testing from single gene testing to whole genome analysis, which can identify multiple genetic conditions.
- She explains the scientific advantage of redoing genomic sequencing as new gene discoveries are made.
Dr. Jean-Baptiste Le Pichon, Interim Division Director for Neurology, Children’s Mercy Hospital
- Dr. Jean-Baptiste Le Pichon explains the criteria for becoming a Nord Center of Excellence, including multi-disciplinary coordinated care, expertise in rare diseases, patient and family engagement, education and training, and institutional commitment.
Thursday, December 11th is All Things Heart
A Rare Diagnosis That Saved His Life: Manuel’s Story of Loss, Survival, and a Second Chance
Manuel Romo lost his twin brother, sister, and mother to a genetic condition no one knew they had. Years later, a new diagnosis the true cause and prompted life-saving surgery. Manuel joins specialists from The University of Kansas Health System to discuss Loeys-Dietz syndrome, monitoring hidden heart risks, and the importance of speaking up, getting checked, and listening to the people who love you.