Cognitive Age: 6
Therapies: Physical, occupational and speech therapies (will be starting counseling for anxiety)
Schooling: Mainstream schooling
Siblings: Jaina (10), Zane (4)
Parents: Joshua & Megan Reiber
Kabuki Symptoms: Speech and motor apraxia, hypermobility, hypotonia, developmental delay, left side weakness, left eye delayed slightly, sensory processing disorder, anxiety, problems with change, doesn’t like loud noises or certain smells, missing teeth, syrinx in her spine, white matter on back of brain, hair does not grow on sides of her head, hip dislocation, joint laxity, strabismus, long eyelashes
Rylee's Story: Other than measuring two weeks bigger than actual gestation, Megan had a relatively uneventful pregnancy. There were no signs that Rylee might have a genetic disorder or any other congenital problems, until she was born. Rylee was trying to get through the birth canal face-first, so Megan was rushed for an emergency C-Section. Had she pushed, doctors said she could have broken Rylee’s neck! Everything went smoothly, she was a big baby which was the reason for measuring big! However, Rylee had low blood sugar and jaundice. Her sugar regulated, but she spent about 5 days in the hospital for the jaundice.
Still, the Reiber’s had no idea that Rylee had a genetic disorder. She seemed to be relatively typical, if a little behind developmentally. She started speech therapy because she wasn’t talking by age 2. Being the second child, doctors told the Reiber’s that this was normal because the older sibling tends to talk for the younger one, but Megan knew that was not the case so Rylee’s PCP suggested speech therapy. From there she was then sent to OT and OT sent her to PT. After a couple of years Rylee switched therapists, at which time the Reiber’s were told to see a neurologist. That kick-started the process of learning that Rylee had Kabuki syndrome through genetic testing. The only surgery she’d had was for ear tubes, which can be common in any kid.
The neurologist ordered MRI’s on her brain and spine, which is when they discovered the syrinx on her spine and white matter on her brain with unknown implications. Every scan since the initial scan has been stable with the first one, so she is being monitored but requires no intervention at this time.
Rylee has only been in the hospital a handful of times, once at 6 months for RSV and a few sets of ear tubes. She never had feeding issues so a G-tube was not warranted either. The biggest challenges for the family have been understanding how to help Rylee and not knowing why she does things a certain way, struggling to understand her, and battling anxiety and SPD. Rylee’s anxiety has her constantly thinking and asking questions about things that happened weeks or even months ago. SPD causes her to chew on her clothes, hair and chewy necklaces. She doesn’t like loud noises or certain smells and can smell things others do not at times. Between her SPD and anxiety, routine is huge. Keeping things simple and the same helps her stay centered and calm, and because her memory is so good, she knows exactly what she is supposed to do and when.
Rylee is in a typical classroom at school and is cognitively on par with her peers, she just takes a little longer to get things done sometimes! She is developmentally delaye but sits at the top of her class with academics. She does have an IEP and goes to a learning support class for one hour a day. She takes sensory breaks where she walks the halls with an aide or a learning support teacher, has a chewy for oral stimulation, and a heavy animal for comfort.
One of Rylee’s struggles is crossing midline. She tends to use her left hand for anything on that side and her right hand for anything on the right side. OT has helped break down that barrier, but it’s a slow process. It’s getting better, although going to the left is hard because that side is weaker than the right.
Recently, it was discovered that Rylee's meltdowns are sometimes triggered by specific foods. Megan and Rylee are working with OT to incorporate different types of foods. They are trying salty, sour, crunchy, sweet, hot, cold and various other types to see what changes her mood, whether it causes or relieves meltdowns. They discivered that a lemon wedge was something she enjoyed! Most of us pucker our lips when we have a lemon wedge, but Rylee smacked her lips together and loved it! We'll put that in the win column!
Rylee is an incredibly smart and bright little girl, in part because of her amazing memory, she is just like most Kabuki kids in that she does things on her own time! Josh and Megan could not be prouder of their little girl, who has made leaps and bounds in her life already!
Rylee’s Favorites: "Jumping, swinging, humming, singing, reading books, princesses and doing schoolwork, but not a lot at once. She needs breaks. Loves to be outside running, riding her bike. Loves to be held and loves to scratch Velcro, her mom’s skin by the neck, dad’s beard. Loves heavy blankets and chewy necklaces.
Dislikes - loud noises, crowded areas, (has a fear she will get lost) new places until she gets used to it. New people, change in schedule/routine. Doesn’t like when we all of a sudden say let's go and she has to stop playing. She needs to have warnings. Doesn’t like when she listens and others like her siblings do not. She always wants to please and help others.”
Rylee's Relationship with her siblings: "They act like any other siblings would. They play together and still fight like normal. Rylee will get mad with them easily and sometimes squeeze them or bite herself. She likes to play with them, but would rather play by herself. Sometimes Jaina is better at teaching Rylee how to do something than an adult would be, and sometimes can calm her down too."
Advice for Kabuki families: "Take one day at a time and enjoy every moment with your child. If they are frustrated you need to stay calm or it's only going to make matters worse. Learn to know what your KK likes and have stuff on hand for them. This past Christmas we bought Rylee a mini trampoline for in the house so she could jump any time she wants, this has helped her a lot. She loves her trampoline and she also has a sensory swing. Have a schedule and try to have them stick to it, it will make your life easier."
Advice for parents of “typical” children: "She is not a typical child, she has her differences, her struggles, but she is her own little self. She knows what she wants and how she wants it. You have to have patience with her and give her sensory breaks or she will shut down and not do anything that you want her to do. She doesn’t run or jump like other children, she likes to hear she is doing well and loves to show you something that she can do that she was never able to do before. She is always happy, seems happier than other children. She is never in a bad mood or grouchy, she will get upset from a meltdown or frustration, but can come out of it quickly after being held or sitting in a quiet place with her heavy blanket.'
How Rylee has impacted the family: "Having a Kabuki child has not really impacted us in any way, it has helped us because we finally understand why Rylee acts the way she does and does certain things. She is one special little girl, all of our children are and they are all different in their own ways. However, it’s hard for my oldest daughter to realize that Rylee is different sometimes she wants her to be like the other kids. We try to explain that Rylee is Rylee in her own special way. The meltdowns are hard on all of us."
Rylee is an intelligent little girl who recently lost both of her top teeth! She is happy and loving despite sensory meltdowns. Rylee has a bright future ahead of her, especially with the amazing support of her parents, grandparents, siblings, teachers and therapists. She has already made a lot of progress and will continue to do so with her family by her side.