Meet a Child with Kabuki

Nina, the Curious Princess

Nina sitting in a window

Nina is a curious, playful four-year-old with a great memory and imagination. She lives in Vermont with her mother, father and brother, Keenan. Her mother, Zoe, shared with us that Nina is a great talker; “She talks like an adult!” Nina can hold a conversation with her mom and dad for a half hour! “At first she can be shy and quiet,” remarks Zoe, “and then she becomes nosy and curious about everyday life.” She loves to visit neighbors and go on adventures to other people’s houses. Zoe mentioned that when Trick-or-Treating, Nina was more interested in looking in people’s houses than getting candy!

Nina with family

When asked about her medical history, Zoe notes, “She has fought a lot and done well.”

Nina’s parents knew at 18 weeks gestation that something would be different about her. There was fluid seen in her ultrasound, and the doctors thought she might have Down’s syndrome. Zoe remembers a long and confusing pregnancy. She was induced so they could have Nina in the hospital and avoid complications. Nina stayed in the NICU for two weeks and had trouble feeding. She was born with laryngomalacia, but has since grown out of it. She was also diagnosed with hip dysplasia in both hips, and has worn harnesses to correct her hips. The hospital referred them to early intervention and Nina began receiving services at four months old, which provided support to the family. Nina was later diagnosed with Kabuki Syndrome when she was just over a year old. After that, her parents felt like they had a better idea of how to manage Nina’s needs moving forward. She sees a variety of specialists to support her changing needs and healthy life.

Nina takes care of a doll at the hospital

Nina had a procedure on her heart due to a valve being too narrow. Because of this she can get tired easily, and her cardiologist recommended that she take breaks when she needs them. This is something they accommodate in the classroom at preschool. Nina does wear glasses and has one eye that turns inward. She is not tall, but Zoe remarks, neither are her parents!

After early intervention, Nina went to HeadStart. Zoe noted that this was great for Nina and helped her with a lot. She specifically remembers that Nina had difficulty with sensory activities. She would get upset if her hands got messy, like getting paint all over them. HeadStart worked on those skills and now Nina will put her hand right in some paint!

Nina with friends

Nina currently attends preschool and is part of a typical classroom. At first, Zoe and her fiancé were nervous about Nina attending preschool. The teachers have learned how to best accommodate Nina. She has her needs met in the classroom while staying included with her peers. Most of Nina’s difficulty in school is keeping her safe because of her physical differences. She wears SMOs to keep her stable, and can walk around, but cannot run or jump. Because she is unsteady, an adult supports her to play on the playground. Everyone in the classroom, including the children, need to be conscious of how she moves in the room. The whole class is being taught to walk carefully and stay in their own space. Because Nina walks slower than her peers, the teachers have Nina lead the line at school so no one gets ahead of her. Now Nina’s parents note that she has really flourished in school, and it has been great for her.

Nina with her dad

At the preschool, Nina receives occupational therapy, and physical therapy. The OT and PT support her in the classroom and let Nina’s friends participate with her, so she is never singled out. She receives speech services outside of school. Language is a definite strength for Nina, but speech works on pronunciation of her speech sounds in therapy so that she is easier to understand.

Nina playing T-ball

“She’s a daddy’s girl, and a princess,” quips Zoe. When at home, Nina’s favorite thing to do is play kitchen. She also loves Doc McStuffin, playing with babies, and playing on her Kindle. Nina gets her mom to do a lot of role-play with her. She loves pretending to be her teacher or a doctor. When she gets home from school, Nina has a great memory and can recite conversations that people had and stories from her day. Nina loves her family; she will tell her mom that she misses her brother. Zoe calls her daughter “her best friend.” She also has a great sense of humor. Recently, when her dad asked her to do something, Nina responded, “Not today, junior.” She is hesitant around other children, but loves talking to adults. At her most recent birthday party at an arcade, Nina liked the slower pace and had a lot of fun people watching. When thinking about her future Zoe imagines Nina being successful, having a family, and getting a job. Zoe wants her to follow her dreams.

Advice to Teachers:

  • Don’t make assumptions – wait it out and get to know the child.
  • Be open to letting children with Kabuki try new things.

Advice to Parents:

  • You are your child’s greatest advocate. Speak up- they need it.

Susanne, the Social Butterfly

A girl with Kabuki syndrome

Susanne is an 11-year-old girl who lives in Texas with her mom, Susan and family. “I call her my little secretary because she has a memory that won’t quit!” remarks Susan. “She remembers everyone’s birthdays and phone numbers, and you better remember if you tell her you’ll do something on a certain day because she’ll hold you to it!” Susanne is a very sociable, affectionate and outgoing girl. She likes to interview everyone she meets, and will offer up some information about herself as well – like that she’s the youngest of six children! In the morning, Susanne is very independent and will get herself dressed and ready for school, although Susan admits that she may need to spruce up her hair a bit. She takes the bus and arrives at elementary school, ready for a day of sixth grade.

Susanne with ponytail

In the mornings, she attends an adaptive dance class that she loves. Her day then consists of regular education classes of science and math, and individualized reading instruction. She also sings in the school choir. Once per week Susanne works on pronunciation speech sounds in speech therapy. In a recent parent-teacher conference, the team celebrated that Susanne has been doing very well in school and they agreed to create more challenging work with increased responsibilities in school.

Susanne with her brother

Outside of school, Susanne is very popular. The family takes bets that they will not be able to get through a visit at the grocery store or dinner at a restaurant without someone saying, “Hi, Susanne!” She is also very involved at her local church, which she attends every Sunday with her grandparents. Susan notes how much the older people adore her. She is part of a youth group at the church and goes on trips to sing at nursing homes with the youth group.

Susanne’s three oldest siblings have moved out of the house, but Susan says they dote over her, and keep in touch with her often. She has an older brother and sister who still live with her, and in contrast, have more of a typical sibling relationship with Susanne! Susan says they will argue and tell her she’s annoying – typical sibling stuff – but are sympathetic and supportive when Susan has medical flare ups.

Young Susanne
Baby Susanne next to a shoe

Susanne started life in the NICU, born just a little premature. In utero, an ultrasound showed that one kidney was bigger than the other. Other than that, the family did not know until she was born that anything was different about her. When she was born, however, she was only four pounds and it was found that she had only one kidney, a heart defect, and a tethered spinal cord. The heart defect has since resolved, and Susanne had back surgery to fix the spinal issues. Around five years of age, the neurologist suspected Kabuki Syndrome, and genetic testing was done to confirm the diagnosis. At her last appointments, her heart and kidneys have checked out as healthy. She did not have cleft palate, but she did have a high palate. The family has worked with an orthodontist with palate expanders and braces to fix this problem. She has had eye surgery for lazy eyes and ear surgery for cholesteatoma, which left her with decreased hearing in one ear. Susanne does suffer from back pain when walking and gets hip injections. A surgery is being considered for when she is done growing.

Susanne in green

Susanne has an active life at school, with her large family, and at church. She goes to birthdays with her friends, and they have come to her birthdays for a sleepover. She even has a boyfriend at school! She has attended two middle school dances this year, and did not want to leave the Valentine’s Day dance! When she grows up, Susanne says she would like to be a teacher.

Advice to Teachers:

  • Always have patience.
  • Find what the child is capable of and follow their lead.

Advice to Parents:

  • Advocate for your child to be in programs that will foster growth.
  • Nobody knows exactly what to expect with Kabuki, getting connected with other families can be helpful.