Today is world wide Kabuki Syndrome Awareness Day! I know my Facebook and Instagram feeds have been green all month for Kabuki syndrome, but today I know I will see even more! Seeing everyone wearing green and supporting this rare disease warms my heart at the love and support we have in our community. A lot of people take the day to share their story with Kabuki, and I figured, why not? So, brace yourselves, Jaxson's story is complex, but worth reading every word!
When I was pregnant with Jaxson, there were early signs that there could be a problem. His quad screen came back at high risk for Trisomy 18, which would have been a fatal diagnosis. Extra ultrasounds were ordered, but there were no physical signs of T18 other than a heart defect that may or may not be related. We discovered this at 18 weeks, and I was told that if we wanted to terminate, I had until 20 weeks in Ohio. That was never an option. We didn't do an amniocentesis because I was concerned about our already fragile baby, and the new blood test they have wasn't covered by insurance, so we opted to wait and see. Later in the pregnancy, Jaxson wasn't growing. Or so they thought because his head was measuring small, and he wasn't moving around as much as Jeffrey had. Non-stress tests were done three times a week for the last 4 weeks of my pregnancy, until Jaxson decided he wanted to come early. That was a nightmare since we already knew he needed to go straight to the NICU at Nationwide Children's, and there were literally zero NICU beds anywhere in the city. If they couldn't stop me on 7/1/12, I would have been transported to Cincinnati to deliver. Thankfully, the labor was slowed down enough to be considered stopped and I was sent home. Three days later, we were back. This time I was already 4cm dilated and there was no stopping him. I arrived at the hospital at 1:30pm and Jaxson was delivered by C-section at 3:51pm on 7/4/12. I have never seen a hospital move so fast, at least not at that point.
They didn't raise Jaxson over the sheet for me to see him, but took him straight to the table for a once over. It felt like FOREVER before I finally heard his little cry. I sent my husband over to see him, even though he didn't want to leave my side. The neonatologist did exactly as I instructed him when we met the week before, he gave me the facts. As he told me the few things he saw off the bat, I just nodded with tears streaming down my face. I couldn't move from the drugs, so one of the nurses wiped my tears. My husband returned, but when I went to recovery, I instructed him to see to our family that was waiting. I still hadn't seen my baby. When I finally got back to my room, everyone was waiting. When they brought Jaxson by before he was transported, he was in an incubator and I was not allowed to hold him. I was so numb, I barely touched him. They gave me photos and took him away. I sent Jayson and my dad right behind them. I was stuck at the hospital for 2 days, dying inside knowing that no one was holding him, no one could comfort him the way I could. I was allowed to leave a day early because it was my second c-section and I proved that I was ready by moving around. They weren't going to keep me there any longer! My best friend's mom stayed with me and drove me straight to Jaxson. I still hadn't been home, hell, I hadn't seen Jeffrey in 2 days either.
If you've ever been in a NICU, you know how overwhelming it is to walk into the open bay. Machines beeping everywhere, lines in veins, lines in arteries, stickers on the heads and chests of babies, cannulas and respiratory devices, NG tubes and feeding pumps. Syringes, isolation clothing, incubators, tiny little babies literally on life support. It's definitely a shock to try and take it in, but the only thing I remember from that first visit is being able to see my baby, and then being told that I could hold him. They did not let anyone else pick him up until I could! The nurse helped me adjust all of the wires and I just sat there with him for hours. Until I had to leave, I did have another child after all. Jayson and I took turns going to see Jaxson over the next 6 weeks. We learned all of the things they found that would cause him problems in the future, including that he would need several major surgeries. We were hooked up with social workers who were amazing in handing over resources and helping us get things ready for home. But those first six weeks, those were so hard on everyone.
Fast forward a bit, Jaxson has regular PT, OT and speech therapies, regular specialist visits and has undergone 9 surgeries. He's 2.5 now, and after years of research and tests and countless doctors shrugging their shoulders, Jaxson received his diagnosis of Kabuki Syndrome. Excuse me, what was that? No, the doctor didn't sneeze. Kabuki syndrome is a rare genetic disorder, he did not inherit it from us, but it was a new mutation in his genes. At this moment, we should have been sent to immunology given the issues Kabuki can cause, but we weren't. And I didn't have time to even figure out that we needed to go, because around this same time, Jaxson contracted aspiration pneumonia after a routine MRI. Upon admission, one of the drs recommended that we get a heart echo because he hadn't had one for awhile, but it was the weekend and we figured we could do it outpatient. Two days after discharge, we were right back, the pneumonia wasn't going away. I requested the echo and that is when the extent of Jaxson's heart issue was discovered. He had severe mitral stenosis, so bad that they scheduled and did the surgery in 3 months. It almost didn't happen then because he had such a hard time fighting the pneumonia and it could have been dangerous, but I convinced the doctors (by threatening to take him elsewhere) to get it done. His first open heart surgery was in June 2015. We were told after the surgery that he would need a mechanical valve, but the doctor was hoping to give him more time to grow first. But Jaxson, as usual, had other ideas, and by September his numbers were back up. In December 2015, a cath was attempted, but caused a severe leak (which we knew was a risk), leading to emergency open-heart surgery the following day to have the mechanical valve placed. That surgery was at least seven agonizing hours, but I knew they had to be careful because Jaxson had coded in the CTICU twice that morning. Finally, the surgeon came out and let us know it was a success. Jaxson would be kept sedated and paralyzed for awhile to let his body recover, and he spent three weeks in the hospital that time. He made it home three days before Christmas.
It's been almost two years since then, and Jaxson has managed to mostly stay away from the hospital. Last year, though, he had the flue twice, RSV and pneumonia in a six month span, causing me to seek out an immunologist. Since we hadn't seen one yet, I opted to see a doctor in Cincinnati who specializes in Kabuki. Earlier this year, we learned that Jaxson indeed has a compromised immune system. He does not make any antibodies for the flu, so the flu shot is essential for his winter survival, and he only makes antibodies for 4 of the pneumonia viruses. He received the stronger pneumonia vaccine almost 2 weeks ago and we will have his numbers re-checked when we visit the doctor next month. But for now, Jaxson is seeing his regular therapists and specialists, and there are no surgeries planned. The last two years have seen Jaxson grow, and I mean actually grow to where he needs new clothes for once! The years have improved his speech one hundredfold, his fine and gross motor skills are catching up and he has emerged with his own vibrant personality that infects everyone he meets! He's happy, he loves life and he is a true joy. I would not change him or anything about him!
Some of you haven't followed Jaxson from the beginning, so I want to lay out his surgeries for you:
Feeding tube placement at 5 weeks
Craniovault Reconstruction (skull) at 4 months
Ear tubes placed
Tethered cord release at 8 months
Distraction surgery 1 (skull) 15 months
Distraction surgery 2 at 18 months
Cleft palate repair at 18 months (surgeries were not at the same time)
Ear tubes placed
Endoscopic Third Ventriculostomy (brain surgery) at 25 months
Open heart surgery at 35 months
Heart cath at 29 months
Mechanical Valve placement at 29 months
Keep in mind, that in between all of these, Jaxson likely spent some time inpatient with some sort of virus or illness. Until his heart was fixed, he couldn't fight anything. Now, while he still has a compromised immune system, he is bigger and has been able to fight off colds with a little extra help from breathing treatments. But if that's what it takes to keep him healthy, then that's exactly what we will do!
Kabuki Syndrome is not a fatal diagnosis, but there are issues it causes that can lead to a premature death. So far, Jaxson is living life as a happy 5 year old and I believe that he will continue to do so for a long time! We don't let possibilities dictate us or dictate what Jaxson is and isn't allowed to do. Sure, we have to be careful, he's going to be on a blood thinner for the rest of his life, but that doesn't mean that life stops or that we have to keep him in a bubble. No, he's a five year old boy who loves to play and be silly and dance and jump and run around like a chicken. He's so perfect, I couldn't imagine trying to keep him bottled up away from the rest of the world! The world needs his smile, it needs his laughter and it needs him to remind us that life is too short. Time to enjoy it while we can!
~"Life is not the way it's supposed to be, it is the way it is. It's how you cope with it that makes the different." -Unknown
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