When their son was diagnosed with a rare genetic disorder, the Voorhies family’s pediatrician provided local guidance, advice, and support.
Staying home and social distancing is nothing out-of-the-ordinary for the Voorhies family.
“We’ve quarantined more or less for the past three and a half years,” says JL Voorhies. JL and his wife, Candis, have to take extra precautions all the time—not only during the pandemic. Their three-year-old son, Cannon, has Gaucher Disease, a rare genetic disorder that affects the body’s organs and requires intensive treatment.
In 2016, Cannon was born eight weeks premature, weighing just four pounds, three ounces. He spent the first nineteen days of his life in the NICU at Woman’s Hospital in Baton Rouge—the first in what would be many extended hospital stays for the Voorhies family. As a newborn, Cannon underwent abdominal surgery for pyloric stenosis, a condition that causes severe vomiting during the first weeks or months of life. Candis and JL hoped that the surgery would be the end of Cannon’s health issues.
“Moving forward from that point, we were really just expecting a normal child,” says JL. “But once our son was in daycare he started getting sick more than other children, and it would take him longer to get rid of these illnesses.”
A Rare Diagnosis
At just a few months old, Cannon started having respiratory issues and was in and out of Our Lady of the Lake Regional Medical Center for treatment. But his symptoms weren’t improving; in fact his condition seemed to be getting worse. Cannon would catch not one, but two or three respiratory viruses simultaneously. His immune system never got a chance to recover. Then, during one emergency room visit, the attending physician noticed that Cannon’s spleen and liver were slightly enlarged, and diagnosed him with splenomegaly and hepatomegaly.
After the diagnosis, Candis and JL knew something else was going on. They put Cannon under the care of Dr. Brooke Bock—the primary physician at St. Francis Pediatrics on West Feliciana Hospital’s campus—after a friend referred JL and Candis to her office. Although they live in New Roads, Candis and JL drove to St. Francisville for Cannon’s appointments with Dr. Bock, lab or imaging services, and non-emergency hospital visits. “We didn’t mind traveling back and forth from St. Francisville to New Roads,” Candis said. “The lab team and everyone else at West Feliciana Hospital was so nice and very caring with Cannon and Dr. Bock was so helpful.”
They brainstormed their approach with Dr. Bock, and decided to enter the St. Jude Medical System in Baton Rouge. There Cannon underwent weekly lab tests to find out why his spleen and liver were expanding while his blood platelet count continued to go down. While Dr. Bock searched for a diagnosis, Candis and JL researched medical conditions, sometimes studying for ten to twelve hours a day. After eliminating thousands of potential diagnoses, they came across Gaucher Disease. At Children’s Hospital New Orleans, Cannon was tested and diagnosed with Gaucher at 13 months of age.
National Specialist, Local Support
Throughout the process, Dr. Bock stayed by the Voorhies’ side. She provided JL and Candis with interpretation, guidance, and support when they needed it most. She pressed the couple to seek out a Gaucher specialist, and coordinated with Cannon’s care team to keep him home as much as possible. Gaucher is so rare that few medical communities are equipped to deliver the specialized treatment required. Cannon’s specialist is located in Virginia, which could have forced Candis and JL to move cross-country and away from family, had they not been able to rely on Dr. Bock to provide local guidance, counsel, and care.
Gaucher disease is a genetic disorder that prevents Cannon’s body from producing enough glucocerebrocidase—an enzyme that breaks down fat cells, and causes buildup of Gaucher cells in organs such as the spleen, liver, and nervous system. Part of Cannon’s treatment involves enzyme replacement therapy, a procedure similar to chemotherapy, and he takes specialized medicine that must be shipped from overseas.
“Unfortunately, a lot of kids don’t get diagnosed in time. They pass away before they ever get the chance to see a specialist, because there’s only a handful of Gaucher specialists in the United States,” says JL. “Of those, only two specialize in pediatrics. Without Dr. Bock and our specialist in Fairfax, our son wouldn’t be here today.”
For Candis and JL, Cannon’s journey has been a long one but it hasn’t dimmed their sense of humor. Cannon gets his Gaucher condition from two recessive chromosome genes he inherited from JL, not one from each parent. “You know when you have a get-together and there’s a little boy running around tearing stuff up, and somebody will say, ‘oh, he’s got too much of his Daddy in him.’ Well, Cannon literally has too much of his Dad in him,” JL laughed.
The Quest for a Cure
Today, Cannon’s condition is steadily improving, and his immune system is nearly back in fighting shape. He’ll turn four this September, and Candis and JL plan to enroll him in kindergarten next year. Best of all, Cannon became a big brother earlier this month. Baby Gatling, the newest member of the Voorhies family, was born on June 2.
Candis and JL remain involved within the Gaucher community, and actively work to share their knowledge with Gaucher patients and parents, and to increase public awareness of Gaucher Disease via their Facebook page. Though the past few years have been anything but easy, Candis and JL know that all of the sacrifices have been worth it to get Cannon to where he is now—a happier, healthier toddler.
“It’s a lot of sacrifice, yes. But to give your child the best shot, this is what you have to do,” explained JL. “That’s what we preach to other parents. We do every single thing that we can to save as much of his body for him, for when the day comes that we do have the breakthrough. Every year that goes by, we’re that much closer to finding a cure.”