KENDALLVILLE – Eighteen-month-old Omarion Jordan plays with his toys in his Kendallville home under the watchful eye of his mother, Kristin Simpson, and the family dog. He's wiggly and active, with no hint of the rare genetic disease that could have taken his life before age 2.
Omarion has a rare genetic disorder called severe combined immunodeficiency syndrome, SCID for short and better known as the “bubble boy” disease made famous in a 1976 television movie starring John Travolta as well as an episode of the 1990s sitcom “Seinfeld.” The disease affecting 40 to 100 American newborns each year makes them extremely vulnerable to infections, which left untreated, kills most children before they turn two. Simpson said SCID is caused by a random gene mutation on the maternal side. She said she has no family history that would indicate it was present in family members.
Omarion was born normally, but began to have skin infection symptoms before he was 3-months-old, she said. Doctors thought he had an extreme case of eczema or cradle cap.
Simpson said everything changed when Omarion got his 3-month vaccinations.
“He had a bad reaction. He had no immune system to react with the vaccine,” she said. “He was covered in a green, pus-like substance.”
Simpson took Omarion to the emergency room twice, but was sent home. She then made an appointment with her pediatrician, not knowing then that it would be months before she saw her apartment again.
“The pediatrician sent us right to the hospital,” Simpson said. “It was 11/2 weeks to clear the infection. I had to drop everything. I never came back (to the apartment) after that morning.”
Doctors sent Omarion and his mother on a four-hour ambulance ride to Cincinnati Children's Hospital for tests. There, Simpson learned that the standard treatment for SCID was a bone marrow transplant. When a two-month search for a bone marrow match came up empty, doctors suggested another route.
“There was a trial at St. Jude (Children's Hospital) for gene therapy and we were given the option,” Simpson said. “We were flown to St. Jude's on a private jet.”
The experimental gene therapy used Omarion's own bone marrow, altered to correct the missing gene. The altered bone marrow is transplanted back into Omarion's body, carried by an HIV virus with all the harmful cells removed.
“It's like a car,” Simpson said. “They take out the harmful elements and use the virus as a carrier for the altered gene.”
Experimental gene therapy comes with both reward and risk. The treatment could be a breakthrough cure for Omarion and other children affected by the gene mutation.
The risks include developing leukemia, which has happened to some patients in the small trial group, other unknown side effects and the enormous financial cost. Treatment costs run into the millions of dollars.
Gene therapies, while breaking new ground in fighting tough-to-cure ailments, are a cutting edge field of medicine, but also an exceptionally expensive one. For example, a gene therapy drug called Zolgensma is the most expensive drug ever approved in the United States, according to a Bloomberg Businessweek story about Omarion and the rise of gene therapies. A one-time infusion costs $2.1 million.
Omarion's case has received national media attention, including the story from Bloomberg Businessweek, which published a story June 5 about the balance of rapidly progressing gene therapy and its high cost, and other outlets including NBC News, WebMD.com and CNN Health.
Simpson is grateful that St. Jude's Children Hospital, the world's leader in the treatment of childhood diseases, has picked up the entire tab for Omarion's treatment.
Simpson said that at St. Jude, she and her mother were the only family members allowed inside Omarion's isolation room. Everyone else was fully masked and gowned. They were in the isolation room for months.
Omarion received his bone marrow transplant Dec. 20, 2018, and finally left the hospital in April. Omarion will have checkups every three months for the foreseeable future and an annual checkup for the rest of his life.
Today he's healthy, thanks to a cutting-edge gene therapy treatment, and a walking miracle.