Estimated read time: 7-8 minutes
AMMON, Idaho — A little boy has endured some of life's toughest challenges after undergoing multiple brain and heart surgeries.
April Judy lives in Ammon and has five kids with her husband, Merrill. Her oldest is 19 years old, and her youngest is Oliver, who is only two and a half years old.
Oliver, or "Ollie," has CDK13-related disorder.
"We don't know a lot about it. There's a Wikipedia page about it," April Judy said. "It deals with expressive language and deals with brain malformation. Some of the kids have muscle and spine issues. A couple of them have heart conditions … a lot of them have autism. The spectrum is so broad."
When Oliver was born Judy remembers when she was pregnant with Oliver and an ultrasound was taken.
"We noticed something wrong with his heart. We went to a bunch of specialists. I had some genetic testing done while I was still pregnant," she explained.
She said medical staff found what looked like a hole in his heart. She and her husband were referred to work with a team at Primary Children's Hospital in Utah and talked about the steps that needed to be taken for their son.
Oliver was born on March 3, 2020, at the University of Utah.
"They immediately started to do some genetic screening while we were still in the NICU at the University of Utah. We ended up staying there for about a month," she said.
What is CDK13-related disorder?
Dr. Steven Bleyl, with the University of Utah Health and Intermountain Primary Children's Hospital, worked with Oliver many times during his first weeks of life.
After many tests, it was confirmed to be CDK13-related disorder.
"(It) was a complete surprise to us," Bleyl said. "Until we read through and really looked hard at the literature (medical journals) and saw just how well Ollie fit that condition, it was really clear that this was the answer for the family."
He explained CDK13 is the name of a gene that is involved in many processes of the body.
"Ollie carries a change in that gene that inactivates it, so it's nonfunctional, and that leads to a bunch of issues," Bleyl said. "This was a brand new condition and … not one that I had ever seen."
He said when they saw Oliver, his team looked through medical journals, and there were 43 people in the world diagnosed with CDK13-RD at that time.
"(Ollie) was 44 that we knew of. We were never testing for this gene until this latest technology came out, so it's very likely that there were patients very much like Ollie who never had a test and who never had an answer, and that used to be much more common," Bleyl explained.
Bleyl said through their research, they found a long list of what someone could have if they are diagnosed with CDK13-RD, but it varies on how severe any of those things are. Heart defects, for example, can be mild, or there can be significant issues that require surgery.
Oliver has gone through two heart surgeries and five brain surgeries.
Judy has learned some people with CDK13-RD can function in society, like having hobbies and holding conversations.
"That was reassuring in the beginning, but as Ollie grew and developed and has undergone so many complications of everything that he has, he is kind of more medically on the complex side of the CDK13-RD, where we are concerned with how long his life expectancy could be," Judy said.
Bleyl said he has studied and found one of the oldest patients in medical journals is 58 years old, while many other patients are under 10 years old.
He said Ollie has been on a rocky road, but he remains hopeful.
"We still hold onto hope, and hope along with Merrill and April, that everything is going to improve and get better because there are people out there who have really done well with this condition," Bleyl said.
Oliver has changed lives
Oliver's condition is something that Judy and her husband continuously navigate and learn from every day.
"He is definitely not textbook. They (medical staff) had to actually bring a lot of neurosurgeons around his bedside to kind of pow-wow and make a plan on what would be best for Oliver," she said. "We've got our work cut out for us, but we wouldn't have it any other way. This kid has changed everything. Every day is a blessing."
Oliver is nonverbal, developmentally delayed and does not swallow. Judy says they have to suction his saliva throughout the day, and he is only able to eat and drink through a gastronomy tube, which is a tube inserted through the belly that brings nutrition directly to the stomach.
She said he can't walk or sit up by himself; however, he does know how to roll over. He is in a wheelchair.
Through all of this, he shows his smile to those around him.
"He's got this crazy head of curly red hair and this look on his face that is just precious. Anyone that we walk past just always comments on something about Oliver. He is definitely very infectious and he knows how to play the game to get attention for sure!" Judy said, laughing.
He loves to be around people like his siblings.
"Oliver has two brothers that are older than him that he just adores. He has two sisters that adore him just as much, and they will take him and just play with Oliver and that's his happiest moment when he is in a room with people he loves," she said.
Connecting with the community
Judy has connected with others on Facebook in a group that discusses CDK13-RD. It has helped her feel like she is not alone and allows her to ask questions to others about their experience with the condition. She said the Facebook group has people scattered around the world.
"There is one other girl in Idaho Falls that has it too. She is on one side of the spectrum and Ollie is on the other side," Judy said.
Judy has shared information with Dr. Bleyl on the Facebook group.
"There's not currently what you would call a cure for CDK13-related disorder, meaning there is no single medicine that can reverse or undo all these things but knowing the spectrum and the different things that can happen and just having that support group can really help in achieving a better outcome for him," Bleyl said.
The community has shown love to the Judy family too. The city of Ammon picked the Judy family in 2021 to begin a yearly tradition of decorating McCowin Park's gazebo and city tree with holiday lights to bring some cheer to the season.
Judy said she has learned a lot from Oliver.
"It's taught us to love on a deeper level," she said.
The future holds some uncertainty. Oliver has a long road ahead of him with more brain and heart surgeries.
"This little guy has had to do hard things, and he is asked over and over to do more hard things. He is such a trooper through it all. Through everything, he just has a smile on his beautiful face and he has some happy moments. He has so much fun," Judy said.
She said she is grateful to have a wonderful team at Primary Children's to help.
"It's great that Primary Children's has that ability—that they can and have these amazing, wonderful surgeons, doctors and specialists that can take the extra time and effort to do what's best for the child, which has been a heartwarming blessing that they care about little Ollie," she said. "It has been awesome for us."
Judy said there had been hard days, and she did not sugarcoat it. She has been overwhelmed, stressed and scared, but she rallies with her husband and knows they can do hard things.
"Our love for our child is nothing but stronger. The love our children have for Oliver is nothing but amazing," she said. "My husband says that is how he's meant to be here: to bless everyone around him."