Raising Awareness for Kabuki Syndrome in Huntsville
In Huntsville, Alabama, October 23 marks a meaningful day as it is recognized as National Kabuki Syndrome Awareness Day. This special observance shines a light on a rare and often misunderstood disorder known as Kabuki Syndrome. Though it can present with unique facial features, congenital heart issues, growth complications, and varying levels of intellectual disability, it’s important to note that everyone’s experience with this condition can be quite different.
The Journey of Discovery
One local advocate for this awareness is Ryan McGarty, who works as a producer for the weeknight newscasts in the city. Ryan’s personal journey with Kabuki Syndrome has led him to share his experiences in hopes of educating others about the complexities of the disorder. At 26 years old, Ryan recalls his lengthy and often frustrating journey to a diagnosis that didn’t come until he was nearly 22. “We didn’t figure out the diagnosis until very late,” he explains. “I joke all the time that I pretty much grew up in doctors’ offices because we were seeing specialist after specialist after specialist.”
Statistics suggest that Kabuki Syndrome occurs in about 1 in every 32,000 to 86,000 children. Ryan’s story reveals that he was born with various challenges, including club feet, a kidney issue, and hearing loss. Initially, he struggled with speech development, which only added to the uncertainty surrounding his health.
Facing Misunderstandings
Ryan’s parents, Michael and Ruth Ann McGarty, have been pivotal in supporting him through these challenges. They have faced misunderstandings and hurtful assumptions about their son’s abilities due to his differences. Michael emphasizes the importance of not allowing labels to define Ryan’s potential. “Everybody just always assumes that he’s also got some intellectual deficiency. I think that’s been especially hard for us as parents,” he shares. “I can’t imagine how hard it was for him.”
While medical professionals were puzzled for years, testing Ryan for various conditions—including Down Syndrome—came back negative. Ruth Ann recalls moments of concern, especially when doctors expressed doubts about Ryan’s future. “I remember at like 17 months, they told me that Ryan would never walk, and I had one tell me he would never talk,” she says. Yet, through early intervention and therapies, Ryan defied expectations by excelling in school and pursuing journalism in college.
Breaking Barriers
Ryan’s case caught the attention of Dr. Nathaniel H. Robin, a geneticist at UAB, who diagnosed him with Kabuki Syndrome. This diagnosis shifted the narrative surrounding the disorder and highlighted Ryan’s unique situation—where he thrived intellectually, challenging the narrow definitions often associated with Kabuki. “His case was so noteworthy because he was clearly intellectually typical and doing great,” Dr. Robin explains. “As we’re talking to the parents of a new baby with Kabuki Syndrome, we can provide them reassuring insights based on Ryan’s story.”
Dr. Robin advocates for improved access to specialists for families dealing with rare genetic disorders. He believes it’s crucial for families to understand their children’s conditions as it profoundly affects their prognosis and management. “It is essential just to say this is the name of my condition because it opens a door to other people who have the same condition,” he states.
A Message of Hope
For families navigating similar paths, Ruth Ann offers heartfelt encouragement: “I would just say for parents out there, you don’t know what the future holds. Just don’t give up hope. Your child is going to have a beautiful life.” Michael echoes this sentiment, urging acceptance and pride in each child’s unique journey. “It comes down to acceptance. Let’s just everybody be accepting of everybody,” he says.
Ryan wants those battling undiagnosed disabilities to find strength in his story, reminding them that they are not alone. “This is important to share my story because I know how that can be. People look at you and think, ‘Oh, you’re not as smart as I am,’” he reflects. “My story is one of fighting; people can do anything they put their minds to.”
In Huntsville, the conversation around Kabuki Syndrome is evolving, and with advocates like Ryan leading the charge, there’s hope for greater understanding and acceptance for all who face similar challenges.
