“He’s such a special kid, kind of heroic in his own way.” -- Ryder Johnson suffers from an extremely rare genetic mutation that compromises his growth and development, but he doesn’t let that steal his joy.
By Maureen Gilmer, Riley Children’s Health senior writer, mgilmer1@iuhealth.org
Ryder Johnson has a contagious laugh and a smile that will melt your heart.
The 4-year-old from southern Indiana is small for his age, weighing just 25 pounds, but he has a big presence and a joyful spirit that belies the difficult medical journey he’s been on since shortly after birth.
Ryder, the son of Hunter and Chelsea Johnson of Campbellsburg, Indiana, is also quite rare. Amid concerns about his development while still an infant, he was referred by Riley Children’s Health gastroenterologist Dr. Molly Bozic for genetic testing.
The results were quite stunning, revealing a rare chromosomal condition called Xq23 deletion, meaning part of his X chromosome is missing, explained Riley geneticist Dr. Molly McPheron.
“There are only a handful of cases known in the world,” she said (11 or 12 at last count). “We take care of lots of kiddos with different types of chromosomal disorders, but it’s the first time we’ve seen this one in our clinic. It’s that rare.”
Ryder’s family knows how special he is, and so do many clinicians at Riley, where he sees no fewer than 10 specialists in the areas of pulmonary, GI, sleep medicine, endocrinology, genetics, neurology, cardiology, developmental peds, vision and hearing, as well as speech, physical and occupational therapy.
“We’ve been so loved and cared for by all of his doctors,” Chelsea Johnson said. “They’ve taken care of him since he was 9 months old. They know him, and they want the best for him. I couldn’t ask for a better place for him to go.”
At the same time, she said, it’s scary to know that his genetic diagnosis is so rare.
“There are a lot more questions than answers, but I know he’s in good hands.”
FINDING JOY
She and Ryder, along with Ryder’s big brother, Jalen, and grandmother made the nearly two-hour trip to Riley earlier this month for one of the little boy’s many clinic appointments. This time it was for his hearing.
He wears hearing aids, glasses and leg braces, is mostly nonverbal and has a G-tube for feeding, but none of that interferes with the pure joy he gets from playing with his brother.
“Like two peas in a pod,” their mom says, smiling.
Together, the two giggle and squirm, then make faces, with Ryder attempting to imitate Jalen’s silliness.
“We just make up our own games,” Jalen said, as he fell to the floor in a bid to make Ryder laugh. It always works.
The laughter is music to mom’s ears, of course, but the seriousness of her little boy’s health is a constant worry.
“It just makes me so emotional,” she says, as she recounts the challenges Ryder faces.
In the beginning, he couldn’t hold his head up. He couldn’t crawl or gain weight. But thanks to treatment and therapy, he is growing into his gangly frame, even walking with help.
He says a few words – mama, dada, go, bubby – but his development is delayed. He loves to be read to and to watch shows like “Blippi” and “Ms. Rachel” in the family’s small, cramped mobile home. He likes looking in the mirror and playing with blocks, and he loves trains and dinosaurs.
“He is the funniest kid ever,” his mom says. “And he’s so observant. His doctors have seen him come a long way. They are in awe. He still has a long way to go, but it’s really beautiful to look back and see how far he’s come.”
SOLVING A PUZZLE
It makes sense that Riley providers are digging into the “why” of this genetic disorder, but with so few recorded cases, answers are few.
“For now, we are managing his conditions,” Dr. McPheron said. “A lot of the things he’s dealing with we see in kids who have genetic conditions, so they often need support with growth, feeding and developmental therapies to help them progress.”
With genetic conditions, she said, there is not often a specific medication or treatment.
“Our goal is more about putting all the pieces together, seeing what symptoms pop up and getting everyone involved who’s needed to treat those symptoms.”
Dr. Jennifer Cheng, a Riley pulmonologist who specializes in rare lung disease, has been on Ryder’s care team for the past year, ever since tests showed he was suffering from interstitial lung disease, something not previously associated with his genetic anomaly.
Fortunately, Ryder is now relatively healthy where his lungs are concerned, but Dr. Cheng continues to keep a watchful eye on him.
“He does not have a lot of respiratory symptoms or struggle with a lot of respiratory infections, but because of how rare his gene mutation is … we are really practicing preventative medicine so we can keep his lungs as healthy as possible and keep him as healthy as possible,” she said, adding that vaccinations against known respiratory diseases are key.
“We want to make sure he excels and really thrives. He’s such a special kid, kind of heroic in his own way,” Dr. Cheng said, “charting his own path and making the best of it. He’s just this happy kid. I always love seeing him in clinic.”
FAMILY PERSEVERES
Maureen McQuillan, licensed clinical psychologist in behavioral sleep medicine at Riley, has been moved by Ryder’s family and the perseverance they have shown these past four years.
“It takes a lot of organization and strength to make it through the day-to-day, going to all these doctor appointments, and remaining calm and communicating clearly and keeping track of what everyone’s doing,” she said. “And this mom has done a really good job of it. It shows her love and her commitment to her son to get him the best care.”
As the biggest children’s hospital in the state, Riley often sees the most medically complex children because it has the resources to care for these kids, Dr. McPheron said.
“Ryder is able to see every specialist he needs and get every evaluation he needs,” she said. “We are not at all fazed by taking care of these kids. It’s what we do every day. In Ryder’s case, genetic testing (as simple as a blood test or cheek swab) helped us make sure he was getting all the care he needed. It’s always our goal to find answers for families and solve the mystery.”
Photos by Mike Dickbernd, IU Health visual journalist, mdickbernd@iuhealth.org
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