Cassian's Story: 

Initially Katelyn's pregnancy progressed normally until her 23-week appointment when they learned that Cassian had heart defects; a double outlet right ventricle and a possible coarctation of the aorta. Katelyn would be induced at 39 weeks and Cassian got stuck several times during birth. " We knew going in that he was going to be born with a heart defect, but the doctors weren’t positive on the severity until he was born. Originally, he was supposed to come home after birth and then go in around 6 months to have his heart repaired. When he was born, he didn’t cry immediately and was blueish/purple and they took him immediately to try to clear his airway. I was able to see him for about 5 minutes before they rushed him to the NICU," Katelyn said. Cassian was immediately taken to the NICU and put on high flow oxygen and was then moved to the PCICU later that day at the Children's Hospital. At just six days old Cassian had open heart surgery to repair the issues with his heart, while continuing to experience complications, including several unsuccessful attempts to extubate him.

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Cassian would spend five months in the PCICU intubated and on life support. Katelyn remembers that he was diagnosed with pulmonary hypertension and developed several blood clots in his heart, liver, legs and arms. She said, "We made the decision, with the guidance of his medical team to do a tracheotomy to give him a better quality of life and remove his breathing tube; but when they attempted to do this, due to unforeseen tracheal defects they were unable to complete the surgery and he had to be reintubated."

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At 2.5 months Cassian began having seizures and it was also discovered that he had hydrocephalus. Cassian then underwent a surgery to place a VP shunt to drain the fluid from the ventricles in his brain. While in the operating room, they placed a gtube as well. Cassian had trouble tolerating any of his feeds and received most of his nutrition through TPN while he was on life support.

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It wasn't long after Cassian's VP shunt surgery that they began weening him off the ventilator and he was successfully extubated; even better he was able to go without the trach, something his medical team initially thought would be necessary. During the time Cassian was still inpatient they tested him for several genetic conditions, but all testing came back negative. It would be about three weeks after extubation that Cassian was able to go home for the first time; he was nearly 6 months old.

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Cassian was initially discharged from the PCICU in October of 2020 and saw genetics for whole genome sequencing in December 2020. By this time, Katelyn had joined a social media group for gtube families. Another parent reached out to her after seeing a picture of Cassian asking if she had heard of Kabuki Syndrome, because he had the identifying features for it.  Katelyn recalls, "I started doing a ton of research and brought it up to genetics, but we waited for the test results to come in. A few weeks after his first birthday we got the results that Cassian did have Kabuki Syndrome. He was then referred to other specialists, such as ophthalmology, to check out other things."

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At Cassian's first ophthalmology appointment they learned that he had been born with congenital cataracts, and it was pretty severe. Katelyn shared, "The doctor said he believed Cassian had little to no vision in either eye and probably only was able to see some shadows and light." A couple months later Cassian underwent surgery on both eyes to remove the cataracts and replace his lenses. It was noted that during Cassian's surgery that his eye structure was abnormal and that he has several structures missing, or in the incorrect place, which his doctor said may be attributed to Kabuki. Unfortunately, Cassian had complications with scarring after his surgeries, and he and his family are now waiting to have a revision on his left eye because his scarring is severe enough that it has covered the new lens.

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Due to his hospital stays, surgeries, and medical complications in his first 6 months of life, Cassian has significant cognitive delays. He began rolling over at 11 months, sitting up at 18 months and army crawling at 22 months. "He doesn’t talk yet, but he makes different sounds depending on if he’s upset, mad or happy," says Katelyn. Cassian receives therapies six times a week and is making improvements.  Recently, Cassian started using both hands to play with toys and pass them back and forth.

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Katelyn says about Cassian's progress, "He sees 12 specialists and doctors and goes to 4 different therapies, so our schedules are pretty full. He was able to go from j-feeds to g-feeds in March 2021, come completely off oxygen in May 2021 and we are steadily increasing the rate of his feeding pump. He has orthotics to help with support in his therapies and his stander at home."  After everything he’s been through, Cassian's mom says, "he is an extremely happy, curious little boy and is extremely stubborn and opinionated on what he will and will not do."

Cassian loves music and dancing as well as vocalizing. He enjoys playing with his piano toys. His favorite toy is his cow that sings to him and his glowie glow worm, which we call his baby. He likes watching Bluey and Cocomelon.  Katelyn recalls a favorite memory, " Our family went to North Carolina for the first time for Christmas and Cassian was so happy because it was cold and normally, he overheats easily."

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What helps your family get through the hard times?

"We take time to rest when needed. The support from our families and seeing how far Cassian has come and we get excited to see what he will accomplish next."

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What impact does having a child with Kabuki Syndrome have on your family as a whole?

"Cassian is the first member of our immediate family to have serious medical conditions or a genetic syndrome."

 

How has being a Kabuki parent changed you?

"It has changed the way we go about doing things on an everyday basis and the specialists and therapy appointments keep us very busy. Being Kabuki parents has changed the way we see the world for people with disabilities and helped to find our voice to advocate for our son. It has taught us patience, strength and compassion."

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What do you find rewarding about special needs parenting?

"What is rewarding is how exciting the little milestones are that neurotypical parents tend to take for granted; that and the happy disposition despite the trials these kids face."

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What advice do you have for other Kabuki parents?

“Kabuki Syndrome affects everyone differently. Take it one day at a time and let your child set their own bar."

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What do you want parents of neuro-typical children to know about raising a child with Kabuki Syndrome?

“I think I would want "typical" parents to know that just because Cassian is a little different and has to do things differently, doesn't mean he should be treated differently. He can still play with "typical" kids, he just might play and react differently. I would also say, for me personally, I don't like when people stare or say things like "I'm sorry he has that" because we're not sorry. He is perfect and keeps us on our toes. If you have questions about things to do with their diagnosis, or equipment, just ask. But never exclude just because they're a little different. 

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Is there anything in the area of advocacy and support that you would like to see or change?

“I would like to see more providers being educated on and aware of Kabuki Syndrome and for there to be more research studies done because there is no little known about Kabuki Syndrome."