It was a gathering unlike any other for a disorder unlike any other.
On Friday and Saturday, Aug. 5 and 6 at Orchard Hill Assembly of God church, people from all over the Midwest and beyond gathered in Mukwonago to talk about Kabuki Syndrome.
Kabuki Syndrome is a rare disorder affecting many parts of the body. It is associated with distinct facial features, including arched eyebrows, long eyelashes, long opening of the eyelids, a flat, broadened tip of the nose and low, protruding ears, according to the U.S. National Library of Medicine. The name for the disorder came from the resemblance to Japanese Kabuki theater makeup.
People with Kabuki Syndrome can have a variety of issues, as the disorder affects every individual differently. Some have heart issues or joint problems, and many are plagued by autoimmune issues and suffer from sinus and ear infections or pneumonia. There are similarities, however; people with Kabuki tend to have developmental delays that range from mild to severe. And problems with eyesight and hearing are common, and about half of those with Kabuki also are diagnosed with Autism.
“It can affect every cell in the body,” Patty Koscinski, of Big Bend, said.
Koscinski’s son Paul, 11, has Kabuki Syndrome. He is enrolled in the Mukwonago School District, along with Lisa Ingram’s daughter, Lily, 10. Although the two won't be in school together until high school
“It’s so rare to have two kids in the same community,” Koscinski said.
Mukwonago resident Ingram started Kabuki Karnival four years ago so kids and families with Kabuki Syndrome would be able to meet kids with the same syndrome and families can feel a sense of community and ask questions and share stories. Ingram said there are very few medical experts on Kabuki due to it's rarity, only 1 in about every 30,000 people are diagnosed with the disorder.
"It's just to help families with some of the problems we see our kids have or that we have as parents," Ingram said.
The event was expanded to two days this year, after families asked for more time together. There was a carnival with games and prizes on Friday and a line-up of speakers, including some of the foremost researchers on Kabuki, on Saturday.
“It was so amazing to see this room full of people sharing this journey and see these kids who are amazingly energetic and optimistic and full of love despite everything,” Koscinski said.
The event has grown since its first year at the church. There were even families from Florida and Alaska in attendance.
"Without the help of the church, this never would have happened," Ingram said.
Speakers were added after Ingram and others realized there weren't any medical conferences solely on Kabuki, and wanted to provide families with some of the information that was out there. The speakers came from all over the nation, including Dr. Hans Bjornsson, the world's leading Kabuki researcher from Johns Hopkins; Dr. Jacqueline Weissman, pediatric neurologist, also from Johns Hopkins; Rene King, founder of All Things Kabuki, based in Alaska; and 18-year-old Aubrey Westmaas of Ohio, who has Kabuki.
“We have some really awesome people doing great work to connect people and raise awareness,” Koscinski said.
Ingram and the group all things Kabuki are looking to start a foundation for Kabuki to continue to increase awareness and raise money for research, which has come a long way since the disorder was first clinically diagnosed in the 1980s. But Ingram said it still has a long way to go.
"There are only two types that can be tested for," Ingram said, " But it won't find every (type)."
Kabuki expresses itself differently in different individuals based on genetics. Ingram's daughter has the more common type of Kabuki, which ingram said around 75 percent of those diagnosed have. Not everyone has the mutation that causes Kabuki on the same chromosomes, which is why symptoms can vary so much between individuals.
The Speakers addressed 21 families about research and awareness of the disorder. During the sessions, the kids engaged in activities set up throughout the church, including arts and crafts and sensory rooms like the balloon room, which are designed especially for those with Kabuki, who often have issues with sensory processing. There are rooms for games, like soccer.
“We’ve got volunteers from Waukesha's top soccer program,” Koscinski said, “They play with kids and do some drills.”
Mary Stein, a librarian from the Big Bend Library read stories, and had an interactive story time with the kids. They would dress up and act out scenes from the books using stuffed animals or toys.
Both Ingram and Kocinski said that it can be hard caring for a child with Kabuki Syndrome, and there is no cure. Doctors are able to treat some of the symptoms through surgery or procedures, but kids are usually seeing many different specialists since the disorder affects their entire body. Ingram's daughter sees 15 specialists for her various medical needs.
“Doctors tend to just put Band-Aids on without fixing the cause,” Koscinski said.
But there is some research being done that could lead to better lives for those with Kabuki Syndrome, and this community that they have formed through online groups and messaging helps bring people together to help spread hope, support and help for parents, kids and families.