Rikki

Rikki is the only girl and one of only two children in the state known to have Kabuki syndrome. She has had 33 procedures in 15 years and has 50 underlying diagnoses. Like most children with Kabuki, Rikki has an incredibly happy disposition. She is friendly, only temporarily reserved with strangers, and once you're friends, you're forever friends.

Rikki loves to play Barbies, socialize, watch movies, and cook. She enjoys learning to ride her modified bicycle, camping, and talking to her Kabuki family on social media.

~Rene, Rikki’s Mom

Kabuki Syndrome

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. To date, mutation in one of two genes leads to Kabuki syndrome. The first gene is KMT2D (formerly MLL2) and the second gene, which accounts for fewer cases of Kabuki syndrome, is KDM6A. Clinical genetic testing is available for both genes.

Artist: Thea McElvy