Cognitive Age: Varies depending on subject matter and objectives, behind in some areas and ahead in others
Therapies: Occupational, Physical, Speech and Nutrition
Siblings: Tyler (18)
Parents: Rhiannon and George Bond
Kabuki Symptoms: Persistent fetal finger pads on both fingers and toes, blue sclerae, some clinical facial features, skeletal abnormalities (including congenitally deviated septum, 2 sets of congenitally fused ribs, scoliosis), short stature, hypotonia, high arched palate, developmental delays (language, fine and gross motor)
Symptoms which may or may not be Kabuki linked: Tetralogy of Fallot, chronic lung disease, hydronephrosis
Gavin’s Story: Halfway through the pregnancy with Gavin, Rhiannon and George learned that their baby would have some congenital defects. First, the doctor's caught his kidney issues, and later his heart defect, Tetralogy of Fallot. At that point, doctors wanted to perform an amniocentesis to determine if the baby had any genetic issues, but the Bond's opted not to do it given the risks involved. No matter how slight the risks, they did not want to take any chances with their unborn baby. Especially since Rhiannon had also developed diabetes and pre-eclampsia, which were both well controlled until the end of her pregnancy when her blood pressure began to cause problems.
Gavin was born at 37 weeks gestation. He was blue at birth and needed immediate respiratory support. Since they already knew of his heart condition, a chest X-Ray was completed, which is when they found his fused ribs. The hospital where Gavin was delivered wasn't equipped for a baby as complex as him, so at 4 days old Gavin was transferred to their local Children's hospital. There, they were able to stabilize Gavin with the help of oxygen, which enabled the Bond's to bring Gavin home, oxygen tanks and all.
Prior to discharge, the hospital ran a micro-array test to look for the most common genetic disorders, but it came back negative. The doctors were surprised as they expected Gavin to have a positive result for DiGeorge syndrome, or 22q deletion. The Bond's met with a geneticist who said that because the only issues Gavin had were his heart and kidneys, that she didn't believe anything genetic was necessarily involved. But Rhiannon didn't agree. Like any good mom, she advocated. She pointed out the rib fusion, the deviated septum and that she thought his toes looked funny. So the doctor looked and said he had persistent fetal finger pads, a trait closely associated with Kabuki syndrome. Upon closer examination, she found other features associated with Kabuki and decided to move forward with testing.
While waiting on approval for Gavin's blood tests, Rhiannon did her own research and had already connected with All Things Kabuki to learn as much as she could. In her heart, she felt this was the diagnosis they would receive, so when the testing came back negative, everyone was surprised. The doctor explained that around 30% of Kabuki diagnoses are clinical due to testing coming back negative. Just to make sure nothing else was going on, whole exome sequencing was performed. When that, too, came back with no results, Gavin was clinically diagnosed with Kabuki syndrome.
Throughout talking with the geneticist and attempting to find a diagnosis for Gavin, the Bond's were also dealing with some very serious heart issues. Shortly after being discharged from the hospital, Gavin's oxygen requirements were quickly escalating. Gavin underwent tests, observations, more tests and the Bond's had many long and hard conversations with doctors. It was determined that Gavin would need open heart surgery, which was performed at just 5 weeks old.
If you've never been through an open heart surgery, it's one of the hardest things on the planet. Placing your child in the hands of a surgeon, no matter how capable, and knowing that they have to stop the heart to work on it (this is when they put the patient on bypass) is terrifying. Gavin's doctors removed his pulmonary valve, opened up his pulmonary artery and closed his VSD. Recovery was difficult. Gavin spent 10 days in the ICU and was on a ventillator for 4 days. He had a collapsed lung, uncontrolled pain and episodes of poor oxygen saturation. But finally, on Gavin's first Christmas morning, he was transferred to the step-down unit.
Moving to a new unit was a step in the right direction, but there were continued problems. Gavin refused to eat and vomited a lot. At one point, Rhiannon noticed when Gavin was stretching that he could only raise one arm above his head. She immediately called the nurse, who noticed some drooping in Gavin's face. And MRI confirmed that Gavin suffered a stroke, and his refusal to eat was due to aspiration. So on January 2nd, Gavin went back to the OR to have a G-tube placed. He was discharged for the second time on January 6th, and was finally beginning to heal.
There was one thing that no one could explain, though. Gavin still required oxygen, which is rare for a child with Tetralogy of Fallot. Typically, the surgery they require fixes the initial problem and they do not have to undergo further surgery for many years. Typically. But Kabuki kids are anything but typical, and they almost never follow the rules. Gavin is no different. Later that spring, his oxygen needs went up again and he began having blue spells. The Bond's took him for a heart echo, which showed stenosis in his pulmonary artery, something which had already been addressed during the first surgery. It was determined that a cath would be attempted to balloon the valve back open, but the attempt failed and a second open heart surgery was needed.
Rhiannon and George were distraught. Rhiannon explains their feelings well, "The anxiety we had sending him in for his first open heart surgery was overwhelming, and I'm usually a pretty put-together person, very logical and able to control my emotions. But the gravity of having to hand over my baby knowing that I was asking them to stop his heart was just enough to make me feel like the weight of the world was on my shoulders. But our other choice was to let him die. So as hard as the choice was, it was also very easy. But we were also reassured that this would be it for about 20 years, when they replaced the pulmonary valve. So we really thought we had some time to recover. But Gavin's sweet heart had other ideas."
The plan for Gavin's surgery was to replace the patch that was initially placed during the first surgery which held open the pulmonary artery. The patch was replaced and the surgeon began to put his chest back together, they had even taken him off of bypass. But before finishing, they did an echo. Nothing had changed and his artery was still stenotic. Gavin was put back on bypass and opened back up. They replaced the patch again. Still no change. The Bond's were notified that things were not going as expected, words that no parent wants to hear, especially during a heart procedure. They wanted to replace Gavin's pulmonary valve, for which the Bond's gave consent. Anything to save his life.
As the valve was being replaced, Gavin's aorta was nicked. This caused severe internal bleeding which required 3 draining tubes in his chest, hours and hours of draining and many blood transfusions to get him stabilized. Rhiannon said, "I felt like I was watching my son die in that ICU room. I cry now just thinking about those horrible hours."
But, like many Kabuki kids, Gavin was tougher than anyone thought. He recovered and was released just a week after that intense procedure.
Shortly after discharge, Gavin's heart was acting up yet again. But the problem was that his weight was not good. They felt like he needed another heart surgery, but he was so underweight that they weren't sure he would survive. So the thought was tabled and the focus became getting Gavin to gain weight.
The Bond's went through lots of trial and error trying to get Gavin to gain weight, but nothing worked. Then, last year Gavin had three hospitalizations including an ambulance ride with advanced life support due to lots of respiratory problems. At this point, Gavin's GI doctor decided that it was time to place a G-J Tube. They had to get weight on Gavin at any cost. And since the tube was placed last October, Gavin has gained three pounds!
Gavin saw his cardiologist in January and has been cleared for six months! Unfortunately, the brochoscope he had done shows that one of his lungs isn't profusing, which is something that typically happens with heart disease, so the Bond's are waiting to see what the next steps are in Gavin's care. In the meantime, Gavin is growing. He's learning. He's happy and his parents are constantly amazed at the strength and resiliency that Gavin displays every day.
Gavin’s Favorites: "Gavin loves books, blocks, fire trucks, animals and climbing on everything. He likes people and loves to be social and will interact with anyone and everyone when we go to a store. He likes being outdoors and enjoys nibbling on small amounts of food. He really enjoys playing with other children, especially our next door neighbor who is 6 months younger than Gavin and also has a heart defect. He has a truly sweet, curious, and loving disposition."
Gavin’s Relationship With His Siblings: "Tyler is Gavin's older half-brother who is currently attending college at the University of Northern Michigan. Because of the distance, he doesn't have much of a relationship with his little brother. It also seems that he is fearful of Gavin's health and the potential for him to succumb to his medical problems, which could explain Tyler keeping his distance."
Advice for Kabuki families: "Get into the ATK network. It's important as a source of information and a sense of community. I have had questions that members of the ATK community has either been able to provide answers to or have been able to show me where I might be able to find answers. The best thing I did to prepare myself to be the best advocate I could be for Gavin was to educate myself on everything that came up: diagnoses, procedures that were being considered, alternatives, etc. Knowledge truly is power and I wanted to be a powerful advocate. "
Advice for parents of “typical” children: "For me, having both a healthy child and my Kabuki kid, it really is very different. From juggling appointments and bills and therapies and meds in tandem with all the normal kid things, life can become challenging. Here's what I want other parents to know:
-Special needs life can be very isolating.
-Sometimes a cup of coffee and a short conversation is enough to keep us from feeling alone.
-For the good of your children and mine, please teach your children how to compassionately interact with families that have differences. Please don't rush them away from my son. Nothing he has is contagious and to behave that way is insulting to us and a very bad lesson for your kids.
-Please ask questions if you want to know about my son, but be thoughtful in your questions and comments. I will not respond when asked "what's wrong with" my son. Rather, try something like, "Why does he have stickers on his face?"
-Please do not diminish the severity of our son's conditions, or the impact of these traumas in all of our lives. We live on a hairline trigger and we live in fight or flight mode. You don't know the entire story because we don't share every tiny detail because, frankly, it would take all week. And at some point, we want to talk about something else, so we stick to the big stuff. But that doesn't mean that it isn't there, percolating in our brain, or in our son's body. This can be a scary life. My son has almost died on several occasions, and when the weight of that is blown over, it makes me angry. We have all gone through a lot, and every time we see another kiddo with our son's condition has passed or is in surgery or has developed a complication, our hearts bleed for those children and families. Because we've been so close. And we are scared because those scenarios are not outside the realm of possibilities for us either. Many parents and children end up with PTSD because we have been through so much. Alarms make me jump and look for a source, any unusual appearance in my son's skin or increase in oxygen need prompts a call to the doctor and on several cases has almost prompted calls to 911. So please don't attempt to reduce these impacts. I realize you are likely doing it to help bring a sense of calm, but it feels like a complete lack of understanding and, in my case, creates division."
How Gavin has impacted the family: "Given the situation with Gavin's brother, it's not all positive. But we just adore Gavin and I am trying to accept that we all must take our own path. But feeling like I've lost 1 child is very hard. Hospitalizations are difficult. Gavin is scared, and it creates distance (physically, anyway) between Gavin and myself and my husband, George. I have had to quit my job and that has created some financial stress. But I love that I get to spend everyday with Gavin. And it's good, quality time. We read books, with on therapies, play, "talk", and I feel like our relationship helps Gavin cope with some hard, scary things. Personally, having Gavin has provided me patience, more compassion than I ever thought possible, and enough medical knowledge that I'm pretty sure I could pass boards. He's given me a new purpose in life, advocating for him and raise awareness for some of the battles he fights, specifically CHD and Kabuki."
Gavin Bond has had a very difficult start to his life, and his parents have done everything in their power to advocate for him and provide him with the opportunities he deserves. His journey is just beginning and he has some rocky paths to overcome, but with the help of his parents and doctors, he will overcome whatever is thrown his way, just like he's already overcome some pretty tough things. His oxygen needs have become a nighttime thing for now, and we all pray that his body continues to heal and grow so that he is strong enough to handle whatever next steps are necessary. Gavin is a sweet little boy who is loved beyond measure, and it's clear that he will fight his hardest in any battle.