Cognitive Age: 3-4
Therapies: Speech, Occupational, Physical and Feeding therapies
Schooling: Currently in special needs preschool, will spend time in mainstream and special needs rooms for all day Kindergarten next year
Siblings: Jeffrey (9), Whitney (23), Michael (24), Austin (24)
Parents: Jayson and Serena Burks
Kabuki Symptoms: Mild/moderate hearing loss, vision impairment including extropia of the left eye, heart defects, tethered cord, cleft palate, hypotonia, duplicating system on kidney plus a cyst on one and stones on both, compromised immune system, reactive airway disease, sleep disturbance, global developmental delay
Jaxson’s Story: When Serena was pregnant with Jaxson, her quad screen came back showing Jaxson was at high risk for Trisomy 18. Additional testing was done via ultrasound, but the family decided that no additional blood work or an amniocentesis would be done because the outcome didn’t matter. Ultrasounds showed a potential problem with his heart, but there was no way to determine the severity.
Serena was scheduled to deliver Jaxson by planned C-section on July 17, 6 days prior to his actual due date. But Jaxson had other ideas. On July 1, 2012, Serena went to the hospital with contractions. Since Jaxson’s heart condition could not be determined completely on ultrasound, plans had already been made for him to be transferred to the local children’s hospital upon delivery. But on July 1, there were zero NICU beds in the entire city of Columbus, Ohio. So if labor couldn’t be stopped, mom would have to be transported to Cincinnati for delivery as moving Jaxson would have been risky. Luckily, labor was stopped. Sort of. On July 4, Jayson and Serena were back in the hospital, only now she was too dilated to stop anything. Thankfully, those three days put Jaxson at 37 weeks, so the fears of being premature lessened. Less than 2 hours after arriving at the hospital, Jaxson was born. And his laundry list of defects came through. The family could not hold Jaxson as he was sent straight to the NICU, but they did get to see him before he was transported across town.
Being stuck in the hospital for 2 days not being able to see her son was one of the hardest things Serena had dealt with at that point. Little did she know what her miracle child had in store! Upon arrival at Nationwide Children’s on July 6, Serena was the first to hold Jaxson. That weekend would prove stressful as a heart medication was removed as a test to see if he needed it. Jaxson came through with flying colors, and they thought his heart problem was essentially gone. But that wouldn’t be the relief they had hoped, as it turned out Jaxson would need several surgeries. He spent 6 weeks in the NICU before coming home with a feeding tube.
Over the next 3.5 years, Jaxson would undergo 11 additional surgeries to his gtube placement. He had three reconstructive skull surgeries due to skull sutures fusing prematurely. He had a spine de-tethering, cleft palate repair, several sets of ear tubes, and 3 heart procedures, eventually needing a mechanical valve in the mitral position. During this time, Jaxson was also in and out of the hospital with various illnesses and sedated procedures.
About a year after his valve was placed, Jaxson contracted the flu twice, pneumonia and RSV in a 6-month span. Serena reached out to fellow Kabuki moms for an immunologist recommendation, deciding to take Jaxson to Cincinnati to a doctor familiar with Kabuki. He discovered that Jaxson only made 4 pneumonia virus antibodies and zero flu antibodies. Last fall, he received the pneumovax vaccine and his flu shot, and at his follow up, it showed that his pneumonia titers were up 4-fold and he actually had influenza A antibodies! For the first time in his life, Jaxson has gone over a year without an inpatient stay at the hospital.
Like many moms, when Jaxson’s quad screen showed high risk for Trisomy 18, doctors stated that she had until she was 20 weeks to determine if she would keep the baby. While they seemed to appear to want to leave it up to the family, it was clear what their true opinions were. Trisomy 18 is a fatal diagnosis. The vast majority of T18 babies don’t make it past their first year. Jayson and Serena did not care. No way were they giving up on their baby. After Jaxson was born, doctors were at a loss. They didn’t know what disorder he had, didn’t know how long he would live or what kind of life he would have. There were no answers for 2.5 years until genetic testing showed Kabuki syndrome.
Now, at the age of 5.5, Jaxson is thriving. He plays t-ball in the summer and loves to play basketball. He loves to be outside and around other kids, he loves going to school and has had a huge developmental (and physical) growth spurt over the last year. He always has a smile on his face, even when he doesn’t feel well, and desires nothing more than to be loved. He has been through the ringer, and was almost lost a few times, but he persevered and to this day continues to prove doctors wrong!
Jaxson’s Favorites: “Jaxson loves hard rock music, WWE, several sports and playing with his brother Jeffrey. His favorite bands are Shinedown, AC/DC and Metallica. His favorite wrestlers are John Cena, Dean Ambrose, Seth Rollins, Roman Reigns, Brock Lesnar, Sting and The Big Show. He doesn’t know it yet, but we are taking them to WWE Fastlane on March 11, and I cannot wait to record their reaction! Jaxson also takes drum lessons."
Jaxson’s Relationship With His Siblings: “Jaxson’s adult siblings are half-siblings on his dad’s side. He loves them all dearly and always wants to go to West Virginia to visit! His relationship with Jeffrey is a bond like nothing I’ve ever seen. They play together really well, and even when we try to get one-on-one time with the boys, Jaxson always wants Jeffrey with him. The hardest thing I’ve ever seen them go through is when Jaxson was in the CTICU after a heart cath caused a leak and led to emergency valve placement. It was flu season and Jeffrey was only 7, so he wasn’t allowed up. It was heartbreaking to watch! Jeffrey is definitely Jaxson’s protector, and when we are out of sight, he makes sure Jax gets what he needs.”
Advice for Kabuki families: “Upon initial diagnosis, Kabuki syndrome can be scary and overwhelming. Take your child’s lead, trust what they are trying to tell you whether verbally or not. Trust your gut, too. Doctor’s are not the “be all, end all” and not all of them will have what it takes to treat your child. Don’t be afraid to get a second opinion, and don’t be afraid to reach out to the community. The Kabuki community is probably the most supportive group I’ve ever had the pleasure to be part of. Utilize it, because someone has been where you are, and we are all happy to help!”
Advice for parents of “typical” children: “Please don’t compare your child to mine. As parents, sometimes we think we need to compare our kids as if it will determine our success rate. I assure you, even with typical kids, this is not true. My son will never be a “typical” child and I do not set that expectation on him. His milestones are different, and each one is celebrated as the glorious accomplishment it is, whether it be a first step or simply tracing a letter on paper. Also, please don’t stare. Yes, he has many scars that are visible on his head from surgery. If you want to know about it, ask. We are happy to share and would much rather you come and talk to us than stare from a distance. Be careful if you do stare, I’ve been known to approach people who do! Not to yell, but to answer the questions they are too scared to come and ask. We’re just as human as you!
How Jaxson has impacted the family: “While there’s always going to be extra stress in our lives because of all Jaxson goes through, the real impact he has is completing the puzzle. He literally makes our family complete. When Jayson and I are stressed out, no matter the reason, he always has a way of lightening the mood and making everyone smile. He keeps us on our toes, and he’s changed how I live my life, but all in a positive way. He exudes happiness, even through his ailments. Without that, I’m pretty sure I’d have been sent to the psych ward long ago!"
Jaxson’s first 3-4 years of life were extremely rocky and full of stress and worry. Once his mechanical valve was placed in his heart, though, it was all over. He’s an extremely happy, vibrant and joyful child who appreciates even the smallest things. He hasn’t met an obstacle he can’t overcome, and we can’t wait to see what he has in store for the world as he gets older. He already changes lives every day, just with his smile and charming personality, so the world better watch out. Jaxson is going to make an impact, and it won’t be small. If you know Jaxson, you know he’s all about, “Go big or go home!” No matter what the situation is.
***Editors note: If you would like your child featured on the Family Spotlight, please fill out the enrollment form on the website. If you already have a questionnaire, please send it in ASAP! I enjoyed writing my own child’s story, but I find it much more fulfilling to tell yours!