Kabuki syndrome is a very rare and unique genetic condition whose wide-ranging effects can touch almost every organ system in an affected person’s body. Remarkably, it shows up differently in every person, and the ramifications can spin seemingly endless and often mysterious medical challenges for individuals and their families.

On this episode of One Rare Heart, we hear about the profound ways this disease has affected one family and their daughter. We also talk with a geneticist at Boston Children’s Hospital about what makes this disease so unique, and the challenges it presents to medical teams trying to coordinate care. A celebrated theater scholar at Brooklyn College, of the City University of New York also helps us explore the connection between Kabuki syndrome and the Japanese art form after which it was named, Kabuki theater.

On a personal note, this episode is deeply meaningful to me, as our daughter Grace was diagnosed with Kabuki syndrome. The way this disease manifested itself in her, led to a long and complicated medical journey, which included the first 18 months of her life being spent in the Cardiovascular Intensive Care Unit. In spite of that, she was always unapologetically herself, and shared with us the joy and love of connection that is a staple of individuals with Kabuki syndrome.

EPISODE GUESTS:

Rene King – Founder of All Things Kabuki (non-profit, and the only US patient advocacy group focused on Kabuki syndrome), and parent of Rikki, who has been diagnosed with Kabuki syndrome.

Dr. Olaf Bodamer – Assistant Chief of Genetics & Genomics, and Director of the Roya Kabuki Program at Boston Children’s Hospital, in Boston, MA.  Also, head of Bodamer Labs, which has a research focus in Kabuki syndrome.

Dr. Samuel Leiter – Distinguished Professor Emeritus of Theater at Brooklyn College, of the City University of New York. He is also an expert on Kabuki theater, and author of over 10 books on the subject. He also actively reviews current theater productions on his blog Theater’s Leiter Side and his Kabuki-focused Kabuki Woogie.

Episode Title Note: This episode's title is a reference to Walt Whitman's poem I Sing the Body Electric, which celebrates the human body, and lifts up all different types of bodies and people as beautifully equal. I love the implications for people and bodies that are different, complex, and often overlooked and undervalued as a result. He writes, "no matter who it is, [the body] is sacred. . . Each belongs here or anywhere just as much as the well-off, just as much as you. Each has his or her place in the procession."