October is Kabuki Syndrome Awareness Month

Green was the color of October as families around the world showed their support for Kabuki Syndrome Awareness Month. A rare genetic disorder affecting approximately one in 32,000 births internationally, symptoms can include feeding difficulties, heart defects, and autistic-like behaviours.

Rene King shared her harrowing story when baby Rikki (now 20) was transferred to the neonatal intensive care unit (NICU) due to complications at birth. “We left the NICU with the understanding that our daughter would likely never have the ability to eat with her mouth, talk, or even walk. So many questions, no answers and no diagnosis.”

A few nerve-wracking months later, a geneticist was able to diagnose the baby with Kabuki syndrome. In spite of the somber prognosis, daily health challenges, and over 40 medical interventions (as of 2019), Rikki has made remarkable progress. “My child doesn't have an easy life,” shared King, “[But] she does have a good life...this beautiful girl is an inspiration to me.”

In 2013, King launched “All Things Kabuki” (ATK) - “the only U.S. patient advocacy group supporting the Kabuki community globally” - in response to the lack of available resources.

With a partnership with the Roya Kabuki Program at Boston Children’s Hospital, there have been significant advances in patient care and health outcomes. As noted by the National Organization for Rare Disorders, coordinated efforts can help Kabuki children reach their potential. 

In addition to birthday clubs and conferences, ATK is also dedicated to ‘Kabuki Warriors’ remembered for their courage. While the syndrome itself is not fatal, the associated medical issues can result in heightened vulnerability.

Montrealers Catherine and Michel are one of these “Green Star Families,” mourning the loss of their beloved Annabelle in 2015 due to heart surgery complications when she was two years old. A musically-gifted child like her drummer mom, Annabelle made friends wherever she went, lighting up the room with her bright smile and bubbly laugh.

Annabelle was a determined little girl, bravely powering through in spite of multiple health challenges. “She was nicknamed ‘Little Star’ at The Lighthouse [respite centre] and everyone there loved her as much as we did,” shared mom Catherine.

Michel and Catherine are still involved with All Things Kabuki, and tell families, “A Kabuki child will progress as any other child, even if at a slower pace and differently.”

“Kabuki is a condition...It doesn’t define a person.” Annabelle showed just that, with her indomitable spirit and ever-lasting legacy.

For more information on All Things Kabuki, visit www.allthingskabuki.org.