Jaden York’s life has been a puzzle since the moment he was born on March 31, 2005.
In the delivery room, his mom, Julie, said she remembers Jaden didn’t cry like her other two children, and he wasn’t breathing at first.
“I could just tell something was wrong, but no one knew what it was,” she said.
At 3 weeks old, she couldn’t wake Jaden up, prompting a trip to the Children’s Mercy Hospital Kansas Emergency Room. Tests found nothing wrong with the infant, but back at home, Julie said Jaden wouldn’t suck when he was feeding, and he either screamed or slept.
At 2 months old, Julie requested a referral to a developmental pediatrician at Children’s Mercy. By 4 months old, the doctor confirmed that Jaden had developmental delays. Julie promptly enrolled him in physical, occupational, speech, vision and water therapies.
“Jaden screamed through every therapy,” Julie said. “He didn’t walk until he was about 3 years old, and he still wasn’t talking when he started kindergarten, despite daily therapies.”
As Jaden grew, his behavior became more challenging. Doctors prescribed one medicine after another, medicines often used to help with issues such as ADHD, aggression and sleep disturbances—only those medicines didn’t help.
“We tried everything, but nothing seemed to work,” Julie said. “Some medicines would make him worse and some didn’t do anything. We were constantly in and out of the hospital. I joked that it was my home away from home.”
Getting that “just right” dose
Then one day, a friend of Julie’s with a special needs child called to tell her about a clinic at Children’s Mercy that her child had just been referred to—GOLDILOKS®. The GOLDILOKS acronym stands for:
- Genomic and
- Individualization and
- Optimization for
GOLDILOKS is one of the few pediatric precision medicine clinics in the nation, and the only one of its kind in the Midwest. This medical team sees children who have not responded to their prescribed medications as expected. Using the sciences of pharmacokinetics, pharmacodynamics and pharmacogenetics, the GOLDILOKS team tries to identify the factors that make each child unique to determine their “just right” dose of medication.
“My friend said Jaden was a poster child for GOLDILOKS, and she was right,” Julie said.
Immediately, Julie called the clinic to see if she could schedule an appointment for her son. After getting a referral from Jaden’s pediatrician, she took him for what she calls a “life-changing” appointment at the GOLDILOKS Clinic on June 30, 2014.
Jennifer Lowry, MD, Medical Director of the clinic, talked with Jaden and Julie, reviewing his medical history, which includes developmental and behavioral issues, as well as osteopenia and an inability to gain weight. Then she ordered genetic tests to help identify whether Jaden has problems metabolizing medicines.
Two weeks later, GOLDILOKS had found a missing piece to Jaden’s medical puzzle—a reason why most medications don’t work for him.
“I still remember walking into this room and there were probably six medical professionals there—doctors, pharmacists and genetic counselors,” Julie described. “They said Jaden was a rare, rare case. He is a poor metabolizer for any drug that uses a CYP2D6 pathway; an intermediate metabolizer for CYP2C19; and for serotonin 2A/2C, he has a decreased response to serotonin reuptake inhibitors (SSRIs).”
CYP2D6 and CYP2C19 are enzymes expressed in the liver, and which are involved in the metabolism of many drugs. Serotonin is a naturally occurring chemical in the brain that regulates mood and behavior.
For the Yorks, Jaden’s test results explained why the 9-year-old didn’t get better when prescribed medicines that help most other children.
“From routine medicines we all take, like ibuprofen or cold medicine, to anti-depressants, they just don’t work for Jaden. That information was a game-changer for us,” Julie added.
Dr. Lowry counseled the family and gave them a list of medications that may require significant dosing adjustments for Jaden. Julie carries it with her everywhere she goes to this day. She’s also made sure the nurse at Jaden’s school has it, along with anyone else who might be caring for her son.
Another piece of the puzzle
But Dr. Lowry took Jaden’s case one step further.
“Given the unclear diagnosis for his poor weight gain and osteopenia, I referred Jaden to the Genome Center for additional testing,” Dr. Lowry said.
Though the center enrolled Jaden in a genetics study, the results didn’t reveal a clinical diagnosis … not until recently.
“The clinic kept Jaden’s blood in its repository for more testing at a later date,” Julie said.
When she mentioned the original study to Eric Rush, MD, FAAP, FACMG, the pediatric genetics specialist who currently sees Jaden for osteopenia, he said there was new testing available that Jaden could participate in. That’s when the Yorks found another missing piece to their son’s puzzling medical condition.
“On Feb. 7, after almost 14 years, we finally learned what Jaden’s clinical diagnosis is,” Julie said. “He has CHD3 gene mutation, also known as Snijders Blok-Campeau syndrome.”
Jaden is only the 36th individual in the world diagnosed with the rare disorder. Individuals affected range in age from less than 1 to 59 years old. The disorder causes developmental, intellectual and speech delays, autistic-like features, very social behavior, sleep disturbances and behavioral problems, muscle weakness, a large head, a difference in brain structure and facial features, including a large forehead, eyes wide and far apart, and no bridge in the nose.
“This diagnosis explains Jaden’s condition, and we’re anxious to learn more about the other people with it,” Julie said. “But the diagnosis from the GOLDILOKS Clinic was even more important for us because it changed how we medically treat Jaden.”
From aggressive to impulsive
Now 14, Jaden’s complex medical history requires a team of Children’s Mercy doctors who constantly collaborate to keep his health on track.
“We’re at Children’s Mercy a lot,” Julie said, “but they’re wonderful. It’s nice that his doctors communicate so well with one another. If someone wants to change a medication or start him on something new, I always ask them to check with Dr. Lowry first, and they do.”
By carefully monitoring Jaden’s medications he has been able to stay in school. His interactions with his older sister, Kirsten, and younger brother, Jett, have improved. Plus, his attention span has slightly increased, he sleeps better, his speech has improved, and best of all, he’s no longer as aggressive as he was on certain medicines.
“Jaden can be a very loving and social kid,” Julie said. “He loves car washes, elevators and KMBC-TV9’s Johnny Rowlands and Neville Miller.
“Honestly, I never thought I would see Jaden come so far. He’s an absolute puzzle and we’re so appreciative of everything Dr. Lowry and the GOLDILOKS Clinic have done to help us figure this out. Dr. Lowry is there to answer any questions I have, whenever I need her, day or night. They always make me feel like Jaden matters. We would never go anywhere else!”