Cognitive Age: Unknown. Isabella is extremely bright in some areas, especially academically, but delayed in others making a determination difficult.
Therapies: Speech, Occupational and Physical therapies
Schooling: Mainstream, general education classes
Siblings: Noah (9), Lilia (5)
Parents: Nikolas and Mikaela Marty
Kabuki Symptoms: Isabella presents with many of the “typical” Kabuki symptoms. She has hypotonia, loose joints and ligaments, gross and fine motor delays, patella instability and frequent knee and hip dislocations, weakened immune system, frequent ear infections, submucosal palate, velopharyngeal insufficiency, seizures, reflux, kidney infections, sensory processing disorder, visual processing disorder, motor planning disorder, anxiety, hearing loss, speech and language delay and has many irrational fears. She has the typical features of appearance with persistent fetal finger pads, epicanthal folds, low nasal bridge, sparse outer eyebrow with interruption on the outer third, sacral dimple, preauricular ear pit, high arched palate, under bite, missing and misshapen adult teeth, low hairline on the back of her neck, second toe overlap, flat and pronated feed, mottled appearance to skin, cupped ears, depressed nasal tip, long palepbral fissures, small mouth with thin upper lip and downward pull to outer corners, ptosis and rosy cheeks.
Isabella’s Story: After a difficult pregnancy that included three hospital stays, Mikaela Marty’s water broke at 36 weeks gestation. Despite her body doing exactly what it was designed to do, Isabella wasn’t progressing as fast as her mom. After seven hours of labor, Isabella Marty joined this world via emergency C-section. She had a head full of thick black hair and very red and rosy skin. She was perfect and all seemed normal the first day except Isabella struggled to latch for nursing.
Things began to change the next day, though. Isabella began to spit up through her nose and choke after every feed. The nurses assured Mikaela that this was normal for a baby who had been born by C-section because there would be remaining mucus in her lungs that didn’t get squeezed out during the birthing process. Except that even after discharge, the episodes didn’t stop and led to a 5-day hospital stay when Isabella was just two weeks old. Every test the doctors ran came back normal, so the Marty’s were sent home with an apnea machine and Isabella was eventually put on anti-acids for reflux.
After a few weeks went by, the Marty’s could tell that Isabella was weaker than most kids her age. They rationalized the delay as being part of her prematurity, and the fact that she was always sick, even requiring hospitalization three times in her first year of life.
When Isabella was 6 months old, she began having episodes that resembled Reynaud’s syndrome and was referred to a neurologist and a rheumatologist. This is when the Marty’s got the news that every parent dreads. The neurologist said that due to her hypotonia and frequent illnesses, he believed there was something larger behind the problems. He suggested having Isabella tested for various diseases and disorders.
So the Marty’s did what any parent would do and followed up on those tests. She had several genetic tests over the next three years, including two full chromosomal analyses, micro arrays, and FISH tests. Everything came back normal. But Isabella was still sick all the time, she was still missing her milestones, she started to display sensory fears and had feeding difficulties. Mikaela knew there was an underlying disorder and had come to terms with it, knowing it was likely genetic, but not knowing what it was made things difficult. She began to research genetic syndromes in her rare moments of free time, meanwhile Isabella continued to be in and out of the hospital with various illnesses multiple times a year.
When Isabella was three, she began to have seizures, the first two lasting over 40 minutes apiece. She was transported to the local children’s hospital by ambulance where she would spend two weeks inpatient. She not only had a severe kidney infection, but she also had viral meningitis. Upon discharge, the Marty’s were referred to a neurologist who specializes in metabolic disorders because some of the labs ordered at the hospital showed that Isabella had high lactic acid levels, indicative of metabolic dysfunction. The timing could not have been worse, the Marty’s felt they were so close to getting a diagnosis, but they could be getting one that was progressive and potentially fatal. Isabella slowly recovered, but Mikaela was spiraling. She couldn’t eat, couldn’t sleep, couldn’t focus on anything except the possibility that she might be losing her daughter.
The neurologist they saw ordered more labs, and even though it was largely inconclusive, he told the Marty’s that he didn’t think Isabella had a severe metabolic disorder. He referred them to a geneticist who he felt could diagnose Isabella.
Just a few months shy of Isabella’s 5th birthday, the Marty’s went to see the geneticist. At first, the doctor wasn’t sure she would be able to diagnose Isabella because her appearance and symptoms were common among a lot of different syndromes. There didn’t seem to be anything specific enough to link her to one syndrome over another. The doctor said that they were nearing the end of tests that could be run, unless the Marty’s wanted to start randomly testing her genes. Since humans have around 20,000 genes, this wasn’t an option. While the doctor was talking to Mikaela, she was examining Isabella from head to toe when she suddenly stopped at Isabella’s hands. She looked at Mikaela and said she and her assistant would be right back. Mikaela says, “[They] left me trembling in anticipation and fear. I knew she had found something.”
When the doctor returned, she held a book to her chest. She explained that Isabella had persistent fetal finger pads, which is only a symptom of two syndromes the doctor was aware of. One of those didn’t match Isabella in the least, and the other one was called Kabuki. The doctor showed Mikaela the book she brought in, and she was suddenly staring at a child she had never seen before who looked eerily similar to her daughter. Mikaela knew then that Isabella had Kabuki syndrome, a diagnosis that was confirmed with genetic testing.
Since receiving her diagnosis six years ago, Isabella has had more inpatient stays for illnesses and has undergone several surgeries (ear tubes, submucosal palate repair, velopharyngeal insufficiency), but the Marty’s have been able to coordinate and plan her medical care. They’ve also had the opportunity to connect with other families living with Kabuki syndrome and they’ve learned to let go of their fears and just enjoy Isabella for who she is.
Currently, Isabella’s biggest problems revolve around her knees. Because of her hip weakness and hypotonia, her knees began to dislocate this year. She will eventually need surgery to repair her knees in order to prevent the dislocations from recurring.
Isabella will enter the 6th grade this fall, and attends a mainstream school and takes general education courses. She maintains As, Bs and Cs with very little adaptation required. There is an aide who floats around the classroom to help kids who need it, and there is a room where Isabella can take tests and relearn material that is difficult for her. She has a few adaptive devices and allowances in her IEP for communication purposes, but she requires no modification to the curriculum that is taught to the other kids in her class. Isabella is very bright and has a great circle of friends at her school who help her with things that are difficult, like opening containers and locking the public restroom doors. She is a very sweet, and very special girl!
Isabella’s Favorites: “Isabella loves to read and write, and aspires to be a teacher or teacher’s aide some day. She loves going to church, riding her bike or scooter, eating pasta, and playing with her dollhouse and karaoke machine in her room. While she is extremely social and loves to be with family and friends, she also values her alone time, and will often sneak off to her room to read or play when things become overwhelming for her. She loves school and hates when she has to miss it for any reason. She has a really great group of friends who make her feel loved and valued, and she enjoys playing a modified version of kickball with them at recess. She is extremely sensitive to and is attuned to the emotions of others- she frequently cries during movies and while listening to music because the sadness of others becomes unbearable for her to think about. She really has very few dislikes (except for when it comes to food!) but her irrational fears can cause dislikes depending on what she is fearful of at any given time. (It used to be balloons, then it was small figurines of animals, etc.)”
Isabella’s Relationship With Her Siblings: “Isabella, like many Kabuki children, is almost always happy, joyful, and eager to please, so she gets along well with just about everybody. She has well under the normal amount of negative behaviors for a child her age, so she stays out of trouble and doesn’t often upset her siblings. That being said, her atypical behaviors can get the best of them some days, and they can get annoyed with her, or frustrated when we can’t do something as a family that they would like to do because of Isabella’s limitations. Isabella and Noah have always had a very close relationship. He understands her in a way that most children don’t, and he always explains to others in a caring way why she may seem different or unable to do certain things. He used to translate her speech for her to others when it was really difficult to understand. He is very patient with her, and with us when we have to devote more time and energy to her than to anyone else. He is always the first to cheer her up when she gets discouraged at things that she is struggling with. Our youngest, Lilia, is very different from Isabella – she is full of energy and is impulsive and carefree. While she also gets along well with Isabella, it’s an interesting relationship to watch – Lilia often seems like the big sister when they play, taking charge or instructing her on how or what to do. Lilia is very physically agile and strong, and has long ago far surpassed what Isabella is able to do. Isabella doesn’t seem to mind, but she loves it when she gets the chance to display her older sister abilities like reading books to her or teaching her math facts.”
Advice for Kabuki families: “It sounds cliché, but hang in there.... in our experience, and in the experience of many of the Kabuki families that I know, it really does get easier. The first three years were incredibly challenging for us... realizing our child had issues and delays, dealing with medical emergencies and frequent illnesses and hospitalizations, not knowing what we were dealing with or what to expect, searching for years for a diagnosis, coming to terms with the diagnosis when we finally got it, finding the resources our daughter needed, learning the systems and navigating the medical world, the insurance world, the therapy world, the world of disabilities... there was truly nothing easy about it. All while trying to teach our child to learn what comes naturally to most other kids- she had to be taught (and in many cases had years of therapy to learn how) to eat, to roll over, to speak, to sit, to crawl, to walk, to color. It was draining, and it was hard on our entire family. But slowly, it seemed like a cloud lifted and things got easier. We got used to our routine, she started meeting her milestones (at her own pace, but she got there!), her illnesses became less frequent and severe, medical appointments became routine, our support group grew and we figured out who to turn to when we needed certain things. It seems impossible when you are in the midst of heartbreak, but your child will surprise you and will exceed even your highest expectations of them. They have a purpose, and your own purpose becomes intertwined in them. They will teach you about life, about acceptance, about how to advocate, how to celebrate, how to bend and stretch yourself in ways you never thought possible in order to best love and care for someone else. Your child will show you that often, it’s US, the parents, that struggle most with their syndrome... they are just simply living the only life they have ever known, and they are doing it with a passion and a happiness that doesn’t even seem possible to have, given the circumstances. It WILL be ok, and in most cases, better than ok. There will be ups and downs, but the downs will make you appreciate the ups in an entirely new light. Do not despair, and make sure to call on people for help when you need it.”
Advice for parents of “typical” children: “Our children didn’t choose to have Kabuki. They didn’t choose to have the extra needs, the quirks, the inability to eat neatly, the speech that nobody can understand, the need to have everything a certain way, or the lack of social awareness that causes them to stand too close to you while they are talking. They didn’t choose to not be able to control their drooling, to always have snotty noses that they can’t independently blow or wipe at age 11, the need for help in dressing, or having to hold the entire class up when it’s their turn to do something that requires more time or effort from them than most other kids. Because they didn’t choose this life, it is our responsibility as their parents to explain to them WHY their lives are the way they are, how they can overcome their obstacles with practice, what they can do to increase their independence, how to love themselves for who they are, and how to love and be kind to even the cruelest of their peers who just don’t get it. So I would tell other parents this: please, please, PLEASE teach your children kindness and patience. Our children didn’t choose to have a cleft palate or to have to wear hearing aids just as your children didn’t choose to have flawless teeth, a great singing voice, or long piano player’s fingers. There are things we can help in life, but there are also things that we can’t, teach your children the difference, and to have grace and understanding, because that is exactly what we are teaching our children with Kabuki syndrome. Teach them not to fear those that are different from them. Teach them that they will feel better about themselves for helping and connecting with children like mine than if they did just about anything else. Teach them that children with disabilities are more than their labels- they have so much to offer to others, and so much to offer in a friendship. Teach them to ask questions, to talk to children in a genuine and caring way about their syndrome and what impact it has on them, and in what way they can offer their abilities and talents to best assist those who weren’t born with the same.”
How Isabella has impacted the family: “I honestly can’t imagine who I would be if I wasn’t a parent to a child with Kabuki syndrome. While it doesn’t define me, it does impact almost every aspect of my life. As a whole, our family is much more appreciative of our time together. We have seen (and even experienced) first hand how fragile life is and how important every second together is. We do everything as a group as much as we can, and when Isabella has surgeries or hospital stays, we all stay together with her, and sleep on hospital couches, floors, Ronald McDonald houses, etc. Our patience and compassion for others has grown and continues to grow daily. We have learned to celebrate every milestone, every accomplishment, every goal that was set and met because we realize how much each of us dedicates, prioritizes, and even sacrifices to getting Isabella where she is today. We have learned to take nothing for granted, for Isabella or any of our children, and even ourselves, because we know that what comes naturally or without thought or energy to most doesn’t come without blood, sweat and tears for others. We have learned to prioritize our lives and to slow down and enjoy the season of life we are in.”
Mikaela and Nik work very hard to keep their family close, to make sure all three of their kids know they are loved and cared for, and have done an amazing job being an advocate for Isabella. Mikaela refused to give up when it took years to get a diagnosis. She hit a dark patch of fear and bounced back with grace. If you’ve ever had the pleasure of meeting the Marty’s, especially Isabella, you will know just how amazing this family is. I had the pleasure of meeting them last November, and am very excited to see them again in 10 days! Isabella’s smile is contagious and it lights up the room just like her joyful personality. Yes, those are features of Kabuki, but they also speak to the love and support she is shown every day at home and at school.