Cognitive Age: 2-3
Therapies: Speech, Occupational and Physical therapies through school, others outside school as needed.
Schooling: Special Needs schooling
Siblings: Justin (11), Fisher (twin, 8.5), Kolter and Cooper (2, twins)
Parents: Hillary and Tyler Clark
Kabuki Symptoms: Hunter has the KDM6A mutation which presents with moderate/severe intellectual impairment, growth delays, low muscle tone, feeding/eating difficulties, high arched palate, delayed bone age, mild scoliosis, non-verbal/autistic behaviors, potential dental problems, wide spaced eyes, flat nose bridge, long palpebral fissures, long eyelashes, sparse outer half of eyebrows, UPJ obstruction
Hunter’s Story: Hunter and his twin, Fisher, were born early at 32 weeks and 6 days gestation. It’s common for twins to be born early, so there was no concern at it happening to the Clark’s. They boys stayed in the NICU for 24 days, where they were monitored due to their premature birth. During this time, Hunter struggled with feeding and didn’t digest formula as quickly as he should have. Both the family and doctors thought it was due to his pre-mature birth, that he would catch up, but that did not turn out to be the case. As the twins grew, Hillary noticed that while Fisher was thriving, Hunter was still struggling. His feeding difficulties continued, he didn’t sleep well and struggled to hold up his head. At 3 months of age, the Clark’s had Hunter seen by a feeding therapist who diagnosed him with slow stomach motility. A medication was prescribed, which helped a lot with his feeding issues, although he still had reflux. At 6 months, Hunter saw a neurologist who diagnosed him with low muscle tone, something the Clark’s had never heard of. They were told he could potentially grow out of it, and that’s where they set their expectations. They thought the gap between the twins would close as they aged.
By 9 months of age, Hunter was just rolling over, and the Clark’s realized that he was delayed. Still, they thought Hunter would catch up to his twin. At 13 months, Hunter was sitting, but Fisher was walking and the Clark’s realized that the gap between them was not going to close, but rather the gap would grow bigger as the boys grew. They turned to a geneticist when Hunter was two. A micro array was done and while everything came back normal, the geneticist was certain Hunter had a genetic syndrome. The problem was getting Whole Exome Sequencing approved by insurance, so they figured the chances they would ever learn anything were pretty slim. Still, the geneticist mentioned Kabuki syndrome as a possibility. After doing the research, the Clark’s determined they didn’t think he had it because he didn’t have the classic facial features. His ears were normal, his eyebrows didn’t arch. So they let it go.
Around this same time, it was discovered that Hunter’s UPJ (ureteropelvic junction) obstruction was not improving and had caused major kidney damage, which required reconstructive kidney surgery to repair. At this time, he could still only tolerate pureed food and he was no longer growing at the same rate as his twin, having just learned to crawl.
At age 3, Hunter was diagnosed with a failing lower esophageal sphincter after he began throwing up everything he ate and was losing weight. The diagnosis required another surgery, a Nissen Fundoplication. Hilary says that the surgery definitely saved his life, but it also set Hunter back physically as he had lost so much strength. But like every other Kabuki kid out there, Hunter persevered. By 3.5 years, he was pulling himself up to stand and walking along furniture. Finally, the Clark’s received a break from the nonsense as Hunter’s medical challenges seemed to stabilize.
By age 5, Hunter was tolerating some mixed textures in his food, but still ate very slowly. He was also able to walk, unassisted, for about 100 feet. He began to gain confidence in the kitchen, holding on to the island and then venturing off for a few steps. In Hillary’s words, “This was so HUGE!” And to make things even better, by his next birthday he was able to walk anywhere in the house without help. His eating was better, too! By age 7, Hunter was eating 90% of the table food the Clark’s ate as a family. That was also the year their insurance FINALLY approved Whole Exome Sequencing. They were ecstatic that the test actually showed something, and surprised that it was Kabuki syndrome, which they had initially ruled out. Hunter was officially diagnosed with the KMD6A mutation at the age of 7 years and 4 months. The Clark’s were elated to finally have a name for what made Hunter who he is! They finally had a starting point for learning as much as they could about their special boy.
Hunter is now 8 years old. He is getting better every day with his ability to eat a variety of foods, and he’s working on self-feeding and using utensils. The biggest thing they are working on with him right now is figuring out a form of communication for him. He is non-verbal, so having a way for him to tell people what he needs, wants and feels will be huge in helping him improve as a person, as well as assist with potential problems he might not otherwise be able to discuss. There is also hope that he will be toilet trained some day, but Hunter’s incontinence and inability to communicate make that process difficult.
Hunter’s Favorites: “Hunter LOVES to be outside. He loves the wind in his face and the cool air on his skin. He loves to swim, swing, ride his bike and go on walks. He enjoys camping trips with the family. He likes to stick his tongue out and shake his head back and forth in excitement when he is outside. He likes books, especially ones that make noise, and his iPad. He loves o be tickled and squeezed. He really likes kisses on his cheeks from his mom. Music makes him happy. Hunter is the happiest boy. He never gets frustrated and never cries. He is content as could be.”
Hunter’s Relationship With His Siblings: “All of Hunter’s brothers are very protective of him. They help take care of his needs. Justin and Fisher always make sure Hunter is included in all that we do. The younger brothers feed him snacks and share toys and books with him. Kolter especially likes to steal the iPad from Hunter.”
Advice for Kabuki families: “You will make it. It is a journey. Celebrate the inchstones not the milestones.”
Advice for parents of “typical” children: “Hunter is an 8 year old boy who likes and enjoys the same things your typical 8-year-old boy does. He is the happiest soul you could ever meet.”
How Hunter has impacted the family: “Having a child with special needs affects us as a family in many ways, from very rewarding to extremely challenging. The rewarding side is that we learn to have patience with each other and with life in general. We celebrate the things that make each child unique. We judge others less. We are very close and aware of each other’s needs. It can also be challenging to have a child with special needs. The biggest challenges for us are making sure that we plan family activities that everyone can participate in. We have to be creative when we go in public and are faced with hard choices. Sometimes we take 2 vehicles when we go places so that one parent can leave with Hunter if needed. Church is hard because Hunter is noisy, the grocery store is hard because he is too big to fit in the basket but is extremely slow walking, the park is hard because they don’t always have adaptive swings/toys, going outside is hard because you always have to hold Hunter’s hand so he doesn’t run, going to new places is hard because we don’t know what to expect, going in public is hard because there isn’t always a place to change his diaper. The future is hard to think about because of the unknowns.”
The Clark’s certainly have their hands full with two sets of twins alone, throw in a special needs child and the difficulty seems insurmountable. Luckily, they have an awesome support system of friends and family who step up and help out when they need it. And just look at the above photo, the smile on Hunter's face says it all.
Like almost every KK that’s been featured here and those that I’ve met in person, Hunter will not let anyone tell him what he can and can’t do. He may not do things at the same speed as other kids, and some things have taken him years to learn, but his desire to continue to learn and grow is beautiful. And, like all of our KK’s, he does it with a smile on his face while playing a beat on his own drum. No one knows what the future holds, but if someone tells you something about your child as if it’s set in stone, pull up the Kabuki syndrome Facebook page and show them that nothing is impossible!
***Editor's note*** After receiving some clarification on the genetic testing from Hillary, I feel it's important to clarify the timeline. Hunter saw the geneticist at age 2 and had the micro array done, which came back normal. They were told to come back in a year when testing would be more advanced. During this appointment, Hunter was checked for Angleman syndrome, which came back negative. When Hunter went back at age 4 for a follow up, the geneticist mentioned Kabuki syndrome and the family was given literature to read. They discussed the material with the geneticist and came to an agreement that it wasn't a fit because Hunter does not display the facial characteristics for a clinical diagnosis. When Hunter was 7, the Clark's requested Whole Exome Sequencing with their geneticist, and insurance actually approved the test pretty quickly. WES results almost always take 3-4 months to return, and that's when Hunter received his official diagnosis.
I apologize for any inconsistencies in the story above and for any inconvenience or confusion this may have caused! As always, thank you for reading!