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 artform 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.
Please take time to learn more about the organizations mentioned in this episode by visiting their websites, which are included below.
Here are some ways you can respond & support:
All Things Kabuki – This non-profit is the only patient advocacy group in the US focused on Kabuki syndrome. They offer many robust resources to families – education, networking, social support, and even some financial support. Please visit their website, where you can learn more about Kabuki syndrome, sign up on their mailing list, and donate to their various fundraising efforts.
Roya Kabuki Program – this initiative at Boston Children’s hospital focuses on providing expert, holistic, family-centered care to individuals with Kabuki syndrome and their families. Visit their website to learn more about their treatment and research initiatives, and take part in one of their awareness and fundraising campaigns.
Bodamer Labs – The research wing of Dr. Bodamer’s work, this group focuses on better understanding the underlying pathogenesis of Kabuki syndrome, and strives to find ever-improving therapeutic treatments for individuals with Kabuki syndrome, with an eye toward an eventual cure.
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 at Brooklyn College, of the City University of New York. Also, 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 says, “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.”
