January 2019: Rare Determination

tags: Neurology Program Kabuki Syndrome Services at Kennedy Krieger

Dr. Jacqueline Stone:  Today I am joined by Dr. Jacqueline Harris, a pediatric neurologist at Kennedy Krieger Institute.

Dr. Jacqueline Harris: Imagine being a mother to an 18th month toddler and being told that your child would never be able to walk or talk. Imagine hearing that she has an intellectual disability and there isn’t anything to be done and the why doesn’t matter. This is what Joella heard about her daughter Kristin. Joella was a special education teacher and continued to work with Kristin and to pursue a diagnosis. Kristin continued to make great progress and actually enjoyed and did well in school. Kristin did notice that specific things were incredibly difficult for her, especially tasks like navigating spaces or drawing, but that she was much better at other things, like reading and socializing with other people.

A photo of Dr. Jacqueline Harris

Kristin’s parents continued to pursue a diagnostic workup and eventually received a clinical diagnosis of Kabuki syndrome at age 11. This led them to Kennedy Krieger. Kabuki syndrome is a rare genetic disease characterized by specific facial features and cognitive challenges, along with many other problems in other organ system, which Kristin faced. Additionally, people with Kabuki syndrome tend to have significant issues with spatial understanding, like puzzles and navigating, like Kristin. Receiving a diagnosis allowed Kristin to connect with other individuals who face similar issues and to understand why she had struggles with the things that she did.

She was able to graduate from Stevenson University. She is independent for most of her activities of daily living, although, she still struggles with things that require navigating or doing puzzles. She has worked as a classroom aid and a camp counselor. Now, among these other things, Kristin participates in research to discover therapies for Kabuki syndrome at Kenned Krieger and is very involved in the community. As a young adult in her 30s, she is a frequent speaker at Kabuki syndrome meetings and is an inspiration to other young people with this disorder and support to families with young children with Kabuki syndrome as well.

Dr. Jacqueline Stone: Inspiring moments is produced for WYPR by Kennedy Krieger Institute. I am Dr. Jacqueline Stone.