Leo Aguillon, 2, pushed a red and yellow toy grocery cart around the ninth floor of Spectrum Health Helen DeVos Children’s Hospital as his mom, Maria, and dad, Antonio, tried to keep up.
Antonio followed close behind, pushing his son’s IV pole.
Their speedy toddler is used to races. He’s in the midst of a critical one right now—a race against time to save his bones.
Leo is one of only 200 to 300 people worldwide who have been diagnosed with Gorham-Stout disease, also known as vanishing bone disease. About 25 percent of the bones in his rib cage and sternum have been absorbed by his body and are now nothing more than fibrous tissue.
About a year ago, Leo spent time in the hospital with pneumonia. Ten days of antibiotics cleared it.
On March 8, the real nightmare began, cloaking his future in uncertainty.
It started with an innocent cough.
“He was coughing and had a little bit of congestion,” Antonio said. “We thought it was a cold or maybe the flu. But there was nothing that would point to a pneumonia.”
Unfortunately, besides pneumonia, it pointed to something, much, much worse. Something unfathomable. As if science fiction.
“The next day, he started vomiting while at day care,” Antonio said. “That obviously made us feel more concerned.”
They took their son to his primary care physician, who sent them to Spectrum Health Zeeland Community Hospital.
A CT scan revealed the unthinkable. Why wouldn’t a chest scan show ribs and a sternum? He was immediately sent to Helen DeVos Children’s Hospital in Grand Rapids, Michigan, where he received an official diagnosis at about midnight March 9.
It’s in your bones
“They told us he had Gorham-Stout disease,” Antonio said. “Obviously, I had never heard of that. I had no idea what it was. They explained what it meant and how Leo was personally affected by it. That was extremely scary. We had no idea what to expect or how serious or advanced the condition was.”
However, hope remained.
“In addition to the information shared with us, I did some research on my own, trying to figure out what some possible outcomes would be,” Antonio said. “There isn’t a lot of information out there on that particular disease.”
Doctors sedated Leo while he recovered from pneumonia.
“We didn’t really know if the medication was the only thing keeping him alive at that point,” Antonio said. “He had a breathing tube down his throat and a breathing machine, and a tube to drain the liquid that’s produced by the disease. Those first two weeks were the worst and scariest part. We didn’t know if we were going to lose him.”
But Leo’s strength and resiliency beamed bright. On March 23, doctors took him off sedation.
He perked up, and dove back into one of his favorite hobbies—reading Dr. Seuss books. He owns 19 of them.
His favorites: “Are you my mother?” and “Green eggs and ham.”
“We read to him every day,” Antonio said. “When we were able to hold him again, it was amazing. It was probably one of the most exciting moments of this roller coaster—just being able to interact with him and see him as a normal child again. Cognitively, he’s a normal kid. Physically, he’s not.”
Besides reading, Leo enjoys pushing his car, playing soccer, assembling Legos and playing with his sister, Lisette, 12, and brother Fernando, 13.
“He’s very active,” Antonio said.
As Antonio entered Leo’s ninth-floor hospital room recently, his brown-haired, brown-eyed son looked up with delight: “Papi,” he yelled, the Spanish word for “daddy.”
Maria, who speaks Spanish, relied on a translation service to help her converse with pediatric diet technician Rachel Ralya.
Leo sat on his bed, surrounded by mounds of Play-Doh. Stacks of Dr. Seuss books sat on the countertop. Resting on the children’s books, a Bible, written in Spanish. On that particular day, it was open to “Proverbio, 16-17.”
A shelf above the books overflows with stuffed animals of every color. Little Leo cuddled a pink bunny on his bed.
But then, he was off and onto the floor. He grabbed his toy shopping cart and headed out the door. Maria followed, wheeling the IV pole behind him.
He runs. He darts. He smiles and he laughs.
It’s a comforting visual for this family that has been through so much, in such a compressed period.
“He almost looks like a regular kid,” Antonio said as Leo pushed his cart toward a playroom, where he pieced together a wooden pizza.
“Can I have a slice of pizza?” Antonio asked his son as Maria straightened the tubes running from the IV pole into her son’s tiny body.
Later, Leo’s pediatric hematologist, oncologist and medical director of the Vascular Anomalies and Hemangioma Team at Helen DeVos Children’s Hospital, Kristen Snyder, MD, entered Leo’s room.
She uncapped a black dry erase marker and asked if he would like to draw on the window. Leo snatched it and drew a flower and tree on the glass overlooking the big city below.
Next she handed him the end of her stethoscope. “Show me where it goes,” she directed her young patient.
Dr. Snyder shared images of Leo’s chest on the monitor. The disease ravaged the front portion of his left ribs.
Instead of hard bone, part of his ribs are instead fibrous tissue.
“This picture is hard to look at, because it’s Leo,” Dr. Snyder told the family. “Here’s the sternum. It’s there, but it’s fibrous.”
‘I’m super hopeful’
“Leo is a very unique case because he has chest involvement,” Dr. Snyder said. “Gorham-Stout disease can affect various bones in the body, such as the jaw or skull. For Leo, there are a different set of complications we have to manage.”
Because many of his ribs are fibrous and not hard bone, they do not function as they should.
“The purpose of the bones of the ribs is to protect the lungs and also to pull air in,” Dr. Snyder said. “As you expand your rib cage the lungs expand and suck air into the body. If you don’t have that bony frame there, you don’t suck the air in as effectively.”
Despite his difficulties, Leo looks great, Dr. Snyder said. But a prognosis is difficult to predict.
“It’s really hard to look at the statistics for this disease since there are so few people who have been treated and each person is unique,” she said. “We’re very, very pleased with how well he has done. We’re hopeful this will continue.”
As if on cue, Leo zoomed by Dr. Snyder with his shopping cart.
“He’s playful, he’s active, he’s shopping,” she said. “Many different doctors, nurses and other providers at Helen DeVos Children’s Hospital have taken care of him and been part of his recovery.”
Dr. Snyder said the cause of vanishing bone disease is unknown, but it’s believed the lymphatic system causes the loss of bone.
Medicines that can help osteoporosis can also help treat this disease. Leo is also taking a medicine to help the overproduction of lymphatic fluid.
“It’s not like a cancer cell where the goal of treatment is to kill the cancer cell,” she said. “The goal at this point is to slow the progression of the disease. We are hopeful to get to a point where his bone loss stabilizes. We’re in a time and an age where we’re learning a lot that we didn’t know even 10 years ago in the discipline of vascular anomalies.”
Dr. Snyder is hopeful Leo will march forward to live a long and productive life.
After his lengthy hospital stay, Leo returned home on May 22.
“Right now we’re concentrating on today and how much Leo has improved since his initial admission,” she said. “I am hopeful that science will advance the treatments available for children and adults with Gorham-Stout disease and that Leo will have a long, healthy life filled with happiness. That’s what I want for him.”