Samantha (Sami) Kuhl

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Age: 22

Cognitive Age: Her last IEP stated she understands at a third-grade level.

Therapies: Physical, Occupational and Speech Therapies

Schooling: Sami attended mainstream school, but over half of her classes were special education with peers similiar to her.

Siblings: Steve 29, Jessie 27

Parent: Rhonda Kuhl

Kabuki Symptoms: Facial, fingers and toes, unsteady gait, cognitive delay

Sami's Story: 

Rhonda Kuhl was already a mom of two when she was expecting her third child. There wasn’t any indication of a problem besides high blood pressure throughout her pregnancy. Her newborn daughter, Samantha (Sami) failed to thrive in her early infancy.  She had an umbilical hernia and bilateral renal dysplasia which means her kidneys were small and fused together.  Her ears flopped forward, and later her poor hearing ability was identified. The family basically lived in a children’s hospital in Milwaukee for the first year of her life. Rhonda looks back at that time, “As parents during her childhood, we felt frustrated not being able to understand why all the complications were arising.”

Sami wasn’t diagnosed with Kabuki Syndrome until her teens. A late diagnosis is common for people with Kabuki syndrome born before the genetic anomaly was identified. Many parents struggled to find answers to help their children. Rhonda brought Sami to see a neurologist because she kept falling. Besides her unsteady gait, the neurologist noticed other features in her fingers and toes that indicated a possible genetic difference. She previously had genetic testing but it wasn’t until the third time they had seen a specialist that her facial features were recognized. That geneticist diagnosed her clinically and the follow-up blood work confirmed she has Kabuki Syndrome. To her mother, it was a relief to finally have an answer to all of the medical mysteries and years of her daughter being sick all the time. Sami thought this made her unique.

Prior to her late diagnosis, Sami’s parents found out she was cognitively delayed when Sami was three years old. Someone at her school bluntly called her the “R” word and told her parents that she would need an IEP. Luckily Sami had the best elementary school teacher the Kuhl’s could ever ask for by the name of Ms. Stewart. “Sami wouldn’t be who she is today without her. She’s the one who got Sami talking.  Before that, Sami was always quiet,” Rhonda explained. Thanks to Ms. Stewart, Sami loved school.  Sami was always in mainstream school, but over half of her classes would be special education. Her mother recalls, “For the most part, people were always accepting of her. Of course, you would get people who weren’t though. It was hard on us as a family when people weren’t nice. Our natural reaction was to be angry, but over the years we learned to just be there for Sami. Despite people who weren’t accepting Sami really did love school. I think her high school years were her best years. The high school she went to in Illinois had the best special education program I could have ever dreamed of. She was surrounded by people like her and people who were accepting and really cared for her. She was in the Special Olympics, which was especially cool because she never had the chance to play sports like basketball, soccer, and bowling before. I’m so happy she got to experience high school the way she did.”

The pandemic was especially hard on Sami because she is a social butterfly and likes to be around people. Luckily things are getting better. Sami was able to go to Disney World and baseball games this year. She also participated in a play through an organization called “A Special Place”. She had 8 months of rehearsals for the Little Mermaid and a memorable performance that gave her so much joy. She also likes to connect with friends on Facebook

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Sami's Favorites: “Sami absolutely loves pizza and garlic bread. I actually think bread was the first solid food she ate and was all she liked when she was really little. She loves hanging out with her siblings and going to the movies with them. She just recently got a cockapoo puppy named Lexie who keeps her busy. Sammi loves playing with her.” Sami dreams of being an artist. “She is looking forward to taking some classes in the near future. She likes to draw and paint and gifts her artwork when there is a special occasion or if anyone is sick or for a birthday”

Do you have a support network? Yes, Sami has always had a lot of support from family: grandparents, aunts, and uncles. They helped out tremendously throughout the years. I could not have done it without any of them.”

Advice for Kabuki families: “The first couple of years are going to be the hardest, but your child’s milestones will be your milestones and you’ll be okay. Your child is rare, but that makes them beautiful.”

What do you want parents of neuro-typical children to know about raising a child with Kabuki Syndrome? “On the outside, it’s easy to look at Sami my daughter, and see what she might not be able to do, but when I look at her all I see is every obstacle she overcame. It might be cheesy but she really is a superhero. So, when your kids achieve a goal no matter how small don’t take it for granted and make sure they know how proud of them you are. As parents that’s our main goal is to just support, no matter what. My only advice is to go be an advocate for your child.”

What impact has having a child with Kabuki Syndrome had on your family? “Our family doesn’t sweat the small stuff. I think it has made us a more united and stronger family. Sami’s journey and our family’s journey is one of a kind and rare.  I honestly couldn’t imagine it any other way. Sami has a great relationship with both of her siblings, Steve 29, and Jessie 27.  My non-Kabuki children are the most patient and kind people you will meet. They love to watch Marvel movies and all of their favorite shows together. They are very protective of her. Their love for Sami is a different kind of sibling love.”

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This writer had the pleasure of interviewing Sami as well, asking her the following questions:

What do you want people to know about you when they meet you? "That I'm special, unique."

What are you really good at? "I like art and cooking." Sami paints with watercolors and acrylics and she likes to cook spagehetti.

What do you like about yourself? "I am talkative and funny."

What do you want people to know about Kabuki Syndrome? "It doesn't change anything about you."

Spotlight Writer: Stacy Limperis