Cognitive Age: 2
Therapies: Occupational and Physical Therapy
Siblings: Cailyn (7), Mackenzie (5), Garrett (3)
Parents: Holly and Mike O’Brien
Kabuki Symptoms: left ear curl, she has the kabuki eyes, fetal pads, short stubby fingers and toes, hypotonia, hyperflexibility, blue sclera (blueness of the whites of the eyes), chronic ear infections (ended up with tubes), GERD (reflux), soft mucosal cleft pallet, and feeding issues that led to a G tube for her nutritional needs. G-tube removed September 1, 2017.
Cadence’s Story: Holly had a relatively normal pregnancy. Her glucose was tested on multiple occasions, and while it was high, it was still acceptable. It wasn’t until after Cadence was born that Holly was diagnosed with gestational diabetes. She also experienced some extra pain and had a constant nagging feeling that something wasn’t right. Cadence always had a high heart rate on ultrasound, but otherwise there was no indication that anything might be wrong.
After her water was broken, the doctors realized there was meconium in the fluid. Cadence was a big baby, weighing 11 pounds and 1 ounce
at birth, and it took several nurses “helping” (read: basically jumping on mom) Holly to push. When Cadence finally came, she was placed on Holly’s chest. Her personal account of the memory will take your breath away: “I remember looking at her as they placed her on my chest, and she wasn’t breathing. Her eyes were open, but she wasn’t breathing.”
The doctors suctioned Cadence and hooked her up to monitors. Her blood sugar was on the floor. Her breathing, finally she was breathing, was labored and fast. Holly got to place a quick kiss on Cadence’s forehead before the baby was whisked away for more tests. The doctors explained that Cadence had inhaled some o the meconium, and that she was having respiratory distress. Her blood sugars wouldn’t stabilize and they had used the maximum amount of glucose they could safely administer. The O’Brien’s were informed that Cadence would be life-flighted to the nearest hospital with a NICU.
Just before the life flight team came for Cadence, the O’Brien’s were allowed a few minutes in the nursery to visit her. Cadence looked more fragile than ever, struggling to keep her breaths and maintain her numbers. The team that came to take her was fantastic, explaining every detail, and also letting the family know they had heard a heart murmur on their assessment. Then it was time for Cadence to leave. She was packed up for transport when they brought her to Holly’s room to say good-bye. It was the first time any other family got to see her.
Holly was not going to stand for staying in the hospital any longer, and checked herself out that same day. She could not bear to be away from Cadence. The next morning, the O’Brien’s learned the extent of the problems facing Cadence. Aside from her sugar not being stable, Cadence had a heart defect that affected 4 parts of her heart called Tetrogy of Fallot. Initially, doctors thought she could wait 4-6 months for her first surgery, but Cadence had other ideas.
Three days after she was born, on Holly’s birthday, they were finally able to hold Cadence for the first time. Once her breathing was stabilized, she was transferred to a Children’s Hospital to be followed by their Endocrinology and Cardiac teams. Just 10 days into her stay at Children’s, it became apparent that Cadence wasn’t going to hold out for months for surgery. At just 14 days old, Cadence underwent her first open-heart surgery. Holly describes it as the hardest thing they’ve ever gone through, and not just the surgery itself, but the recovery. Milestones were reached and celebrated, even the smallest, and setbacks were grieved. Cadence spent over two months recovering from surgery, between fighting infections, fluid retention in her lungs and trying to manage sugars, there were a lot of things for Cadence to overcome.
But overcome, she did! To help with stabilizing sugars, the O’Brien’s decided to have a G-tube placed for Cadence. It was the last thing keeping her in the hospital, so it was a no-brainer. Three long months in the hospital, and Cadence finally got to go home on Mother’s Day weekend. Finally, their family would be complete at home.
During their months-long hospital stay, the O’Brien’s were connected with the genetics team. They wanted to look into testing for Cadence because of her multiple issues. Initially they ruled out the most common, and then decided to do Targeted Exome Sequencing. When that bloodwork came back, Cadence was officially diagnosed with Kabuki syndrome.
As with most genetics teams, the information given at the diagnosis appointment was mostly scientific and related to the test at hand. There isn’t a lot of information that can be passed out to patients diagnosed with Kabuki because many geneticists still don’t know what it is. But Holly wasn’t going to take that and lay down, so she went searching. What she found were two places of immediate support and warmth: All Things Kabuki and the Kabuki Syndrome Facebook group. She says she also relies heavily on family and friends to get through this journey, and she feels blessed to have so much support in her life!
Since leaving the hospital, Cadence has done remarkably well. She’s been taken off of all medications, except for one, for her hypothyroidism, and they are hopeful she can come off of that when Cadence turns three next year. Cadence is now walking, and while she started out with AFO and SMO braces, she now only wears the SMO braces to help with ankle strength and her feet turning out. She had ear tubes placed in 2016 after chronic ear infections. She had her g-tube removed this past September, and has done amazing at maintaining her eating habits and weight! She will have to have another heart surgery at some point, but her heart function is maintaining for now and cardiac appointments have been moved to yearly.
“We're absolutely amazed and so very proud of all she's accomplished and endured in her almost 2 years of life. She never fails to prove her doctors wrong, and manages to bring a smile to everyone's face she meets. We're so thankful we have her in our lives, and for the new perspective her journey has given us. We spend more time focused on the things that truly matter, and trying to see the world the way she does, with pure enthusiasm and joy!”
Cadence’s Favorites: “Cadence loves to listen to music and dance. She loves playing with her siblings and/or aggravating them. She loves eating (it’s new to her), and very much dislikes peas, bloodwork, and being ignored. She’s a people person and requires everyone to at the very least acknowledge her presence!”
Cadence’s Relationship With Her Siblings: “Our kids have the sweetest, strongest bond I’ve ever seen in such young children. The absolutely adore her, and she them. They love helping with her care, and spending time with her. Even our 2 year old fawns over her. It really melts my heart!”
Advice for Kabuki families: “You’re not alone. It never hurts to put yourself out there and look for others to lean on, share advice, ideas, and struggles.”
Advice for parents of “typical” children: “It’s harder than it looks at times…most of the time. Cadence is the most pleasant child, and for that I’m grateful, but it doesn’t take away of the extra needs she has. I have no idea what challenges we will face in the future, but I would hope that others would be patient with us, and understanding of what they don’t deal with on a daily basis. With Kabuki, you never know how it will affect your little one. There is so much unknown. While typical children’s parents may not understand the fear associated with that, I hope they respect our decisions in regards to our daughter and her needs, as we all just want the best for our kids!”
How Cadence has impacted the family: “It has truly opened my eyes to the struggles that special needs parents have. Cadence has an appreciation for life that is inspiring and infectious. She brings a smile to everyone’s face and no matter the circumstances manages to be the happiest, sweetest little girl. I’ve become more compassionate and considerate of other parents. You really never know someone else’s struggles. I’ve also gained a new level of faith. Faith in myself, my family and friends, our medical team and that God has a bigger plan for Cadence, and I’m glad to be along for the journey, no matter how much of a roller coaster ride is has been.”
Cadence has come a long way in just under 2 years, from a very touch and go start to a vibrant and happy toddler. She loves people, she loves music and she loves attention (Just ask Holly!). Cadence is a light in every room she enters, and I, for one, cannot wait to see what she will contribute to this world.