Family of boy born without immune system prepare for a second child with condition [The Wisconsin State Journal]

Jun. 20--Moments after Julie Osborn gives birth to her second child this summer, the baby will be whisked to a reverse isolation chamber, a hospital room designed to block the entry of germs.

The concept is familiar to Osborn and her husband, Clark. Their first child, Josh, now 11, just spent 80 days sealed in a hospital room as part of his treatment for the same immune system disorder, commonly known as "bubble boy disease."

In the general population, the disorder is thought to occur once in every 500,000 to 1 million births -- those were Josh's odds. With the gene already in the family, the couple's second child had a one-in-four chance of having the disorder.

The Osborns chose to proceed anyway and said they never considered terminating the pregnancy.

"No, no, never," said Julie Osborn, 43. "We really believe in life no matter what the circumstances."

The couple said they are strengthened by their Christian faith and encouraged by Josh's prognosis. With aggressive medical intervention, including weekly shots that cost $18,000 a month, he has lived a nearly normal life.

In the media

In 1976, the ABC television movie "The Boy in the Plastic Bubble" became a pop-culture phenomenon.

John Travolta starred as a teenager with no immune system who lived in incubator-like conditions and died young. The movie introduced the disorder, called severe combined immunodeficiency (SCID), to a wide audience but left behind some now-outdated images.

The disease is no longer a death sentence if diagnosed immediately.

Josh was diagnosed at 2 months and quickly received healthy cells from his mother through a bone marrow transplant. The procedure has been found to fix a child's immune system in about 95 percent of cases if done in the first few months of life, said Dr. Rebecca Buckley, Josh's physician and a Duke University SCID researcher. The oldest patients who received transplants as infants are now 28, she said.

Josh's transplant worked for more than two years but then failed. He was too sick for another transplant, so doctors put him on an immune-boosting drug.

Until recently, Josh got a weekly shot of the drug in each leg. And once a month, he received an IV that took a couple of hours.

A costly drug

The cost of the shots -- estimated at $1.7 million over eight years -- has been covered almost entirely by the family's insurer, Dean Health Plan, said Clark Osborn.

"They could tell us tomorrow that they couldn't spend another penny on us and we'd have to thank them for all they've done," said Osborn, 46, who is self-employed and provides Web design, publicity and other support to churches and missions.

Dean Health Plan spokesman Pete Thompson said the company cannot comment on specific cases but that, in general, "we understand that chronic and severe conditions are sometimes unavoidable and that the role of insurance is to provide care in just such situations."

The family gets its health insurance through Julie Osborn's position in sales at the Princeton Club fitness facilities, a family business run by her brother, Dave Gerry.

In March, doctors were stunned to learn the benefits of Josh's earlier bone marrow transplant apparently kicked back in -- an incredibly rare occurrence. This meant Josh might be fine without the shots.

To make sure, doctors stopped the shots while Josh spent 80 days sealed in a Maryland hospital room -- an actual bubble-boy experience. The results were positive, and on June 11 he stepped back into society, telling his dad, "The world is so big."

Josh is back home and likely will undergo a booster bone marrow transplant once his mother is strong enough to be the donor again.

Outside the bubble

Beyond those experiences, Josh has lived a normal life, interacting with friends and participating in activities as any child would -- no bubble required. He will be a sixth-grader next year in the Monona Grove School District.

"The disease is a little weird and a little irritating because of all the things I've had to do to get rid of it," Josh said. "I don't know a lot about it. I just know it's not a good disease to have."

By the time Josh was 4, his health was so good his parents began considering another child. The Osborns are very religious, a factor that played a role in their decision. They attend New Crossing Church, a nondenominational congregation in Sun Prairie.

"We both had a pretty strong conviction that the next child would be healthy," Clark Osborn said. "I'd say it was a spiritual thing -- what we knew about God and what people we prayed with shared with us. We both were expecting the child to be healthy."

Difficult news

When the call came from a geneticist Feb. 1 that the second child would have the disorder, "I cried pretty hard," Julie Osborn said. "I guess we just weren't prepared."

The couple participates in local anti-abortion activities and never considered ending the pregnancy, Clark Osborn said.

"I had some natural, human disappointment (after the call)," he said, "but it was replaced in minutes with an expectation that God would, at some point, reveal to us why this is what needed to happen."

Josh was nearby when his mother got the call. He heard her weeping, and, fearing she'd lost the baby, ran to her.

"Oh, honey, your brother is fine," Osborn told her son. "He's just going to have the same thing you do."

Josh was relatively unfazed, his mother recalled, telling her, "Look at me. I'm OK."

That's the family attitude now -- they can do this again, and this time they'll be able to plan for it.

Awaiting Timothy

The Osborns' second child, to be named Timothy, will immediately begin receiving life-sustaining shots. Once he reaches 22 pounds, he will be a candidate for gene therapy, which replaces faulty genes with working ones and is now considered the ideal treatment, Buckley said. If that's successful, shots will not be needed.

In Josh's bedroom, not far from a large collection of Legos, he has taped to the wall a row of ultrasound photos of his baby brother. Asked what he would say to Timothy about the disease, Josh said, "I'd tell him not to be scared."

------

State checks all newborns for deficiency

Since Jan. 1, 2008, all newborns in Wisconsin have been tested for severe combined immunodeficiency (SCID).

Of the estimated 180,000 infants screened so far, one has had the disorder, said Charles Brokopp, director of the Wisconsin State Laboratory of Hygiene at UW-Madison.

The cost to treat a newborn immediately diagnosed with the disorder is around $250,000, Brokopp said. If not quickly diagnosed, costs run into the millions and life expectancy drops, he said. "The cost benefit of screening versus not screening is tremendous."

The testing also has identified eight to 10 other children with compromised immune systems requiring medical intervention, he said.

SCID screening costs $4 to $5 per newborn and is covered by a grant from the federal Centers for Disease Control.

Wisconsin was the first state to begin SCID testing for all newborns. Massachusetts also now screens for it.

Last month, federal officials recommended all states add it to the battery of tests done on newborns.

To see more of The Wisconsin State Journal, or to subscribe to the newspaper, go to http://www.wisconsinstatejournal.com.

Copyright (c) 2010, The Wisconsin State Journal

Distributed by McClatchy-Tribune Information Services.

For reprints, email [email protected], call 800-374-7985 or 847-635-6550, send a fax to 847-635-6968, or write to The Permissions Group Inc., 1247 Milwaukee Ave., Suite 303, Glenview, IL 60025, USA.