Toddler Battles 'Bubble Boy' Syndrome

Aug. 29, 2003 -- Imagine a life where the common cold or the tiniest germ could potentially kill you. That's the world toddler Mason Williams is living in.

Mason and his twin brother, Peyton, are growing-up in Indianapolis, Ind. Their father, Joe, is a contractor. Their mother, Rachel, is a medical secretary. They look like any normal family. But they're living anything but a normal life.

Mason is suffering from a rare and deadly disorder called SCIDS, severe combined immunodeficiency disease. The illness first became known to the American public in the 1976 John Travolta movie The Boy in the Plastic Bubble.

A ‘Time Bomb’

Like the character in the Travolta film, Mason's body doesn't produce enough white blood cells to protect him from any illness. The movie dramatized the real life world of kids separated from a world of germs by a plastic bubble.

Mason isn't surrounded by plastic, but he is trapped in a bubble of sorts. He is isolated with his family.

Dr. Joanne Kurtzberg, a leading authority on SCIDS, said Mason's illness is so severe "he's almost like a time bomb."

Kurtzberg said, "He looks very healthy, but he at any minute could contract an infection that a few days later would take his life. He wouldn't live to go to nursery school or go to kindergarten if he doesn't get a transplant."

Kurtzberg says Mason's only chance for survival is a stem-cell transplant, a transfusion of life building blood cells which can miraculously create a brand new immune system. The cells are usually taken from a parent's bone marrow, because they provide the best genetic match. She has pioneered transplant techniques to help SCIDS patients at North Carolina's Duke University.

But the transplants don't always work.

Eight years ago, Joe and Rachel's first child, Tyler, was born with "bubble boy syndrome." At first, they didn't understand why he was constantly sick.

"We even had a doctor who kind of questioned things, and would make little remarks. … And that makes you question yourself all the more. … If a doctor is questioning you, you start to think, well, maybe it is me," Rachel said.

Tyler was 18 months old before doctors figured out his problem. So the couple tried a stem-cell transplant to save the boy's life. Joe donated his stem cells from his bone marrow. But by then, it was too late. Tyler was too weak to fight off the smallest infection.

At barely 20 years old, Joe and Rachel learned a terrible truth about themselves. Each carried a deadly gene that might produce the same sad results as Tyler in another child.

After learning this, the Williams family decided not to have any more children. They couldn't bear the thought of having another child go through what Tyler suffered.

But they accidentally became pregnant again, this time with twins. Instead of joy, Joe and Rachel were filled with dread. They realized that one or both of the twins could be born with the same deadly disease.

Rather than terminate the pregnancy, the couple prayed for a medical miracle while clinging to their doctors' advice.

Lightning Strikes Twice

"They said we probably had better odds of winning the lottery than we did of having another child with this disease," Rachel recalls.

It was like lightning striking again. Peyton was healthy, but Mason was diagnosed with SCIDS.

With the traumatic experience of Tyler's death still fresh in the minds, the young couple took action. They turned their home into a germ-free zone, creating a virtual prison for Mason as they waited for a life-saving transplant. His only playmate: his twin brother, Peyton.

Though Peyton was perfectly healthy, he was also forced to live in isolation. If Peyton played with other children, he could bring home germs which could be deadly to his brother.

At 11 months old, Mason's only outside exposure is a weekly hospital trip to get critical medicine to boost his immune system. The routine is tough on a baby, but it's buying him critical time until his transplant.

At last, the Williamses are given wonderful news. A national search by Kurtzberg's team at Duke University hospital found a match 800 miles away. A new mother donated her baby's umbilical cord blood after delivery. Umbilical cord blood is rich in stem cells and can kick start an immune system like Mason's.

So Joe and Rachel put their lives on hold in a desperate attempt to save their little boy. They quit their jobs, packed up their home, and began the long journey to North Carolina, dreaming of a life for their son that won't end up like their first son's.

Mason’s Grueling Battle Begins

Mason has begun a life or death battle. First, his body is prepped for the transplant with a stiff routine of chemotherapy to kill off his own white blood cells. Any remaining ones could threaten the transplant which will give him a new immune system, Kurtzberg explained.

Kurtzberg says the treatment is a tough ordeal. "Mason is going to receive very high doses in chemotherapy, which can damage his other organs, like his liver or like his lungs. And occasionally that kind of damage is irreversible and a child can die from failure of one of those organs to function." Essentially, the fight to save Mason could end up killing him.

After nine grueling days, Mason's chemotherapy is over. Finally, he is ready for the transplant his parents have dreamed of since the day he was born. His doctors finish the last round of tests and hope for the best.

Mason's hope for life lies in a small bag of precious stem cells extracted from the umbilical cord blood of the donor's newborn baby. It arrives on ice, hand delivered by a courier. The procedure Mason will undergo is experimental, having been performed only about 40 times.

The umbilical cord blood is attached to an I.V., and the life-giving stem cells slowly begin to flow into Mason's body. The procedure takes only 15 minutes — a year of praying and waiting is over.

Five weeks later, the Williamses get the news. It's both a prayer answered and an amazing medical success. Mason's new white blood cells are growing and he's able to leave the hospital to continue his recovery back at the apartment.

Back to Indiana

Months later, Mason is getting stronger and has passed the point where his brother Tyler lost his battle to "bubble boy syndrome." It's time to go home to Indiana.

Now 18 months old, the boys have grown into toddlers. Joe goes back to work so he can support his family. But Mason is still too sick to leave the safety of home.

The seasons change again and as the days of 2002 grow shorter, Rachel and Joe continue to worry about Mason's recovery. The new stem cells have been growing in his body for six months now. And his immune system is almost 50 percent of normal. Yet, he isn't growing. Mason is noticeably smaller than his brother Peyton and his fine motor skills are less developed.

By December, nearly a year since 20/20 first met the Williams family, the boys are approaching their second birthday, but there will be no party with other children, no celebration. Instead, there are only questions. Will Mason catch up to his brother? Will he ever look healthy? And most important, is the transplant working?

Medical Miracle

In early March 2003, a year since Mason's stem-cell transplant. His family is about to learn whether miracles really do happen. For a couple who has every reason not to believe in a happy ending, it is the moment of truth. Back at Duke University, Kurtzberg is about to make their every wish come true.

In her low key way, she tells Joe and Rachel Williams that the transplant has worked. Two-year-old Mason is no longer suffering from bubble boy syndrome. Numbed by years of fear and uncertainty, Joe and Rachel can barely believe what she's saying.

Kurtzberg tells Joe and Rachel that they have every reason to expect that Mason will have a normal lifespan and they need to start thinking of him as a normal child.

Kurtzberg's team has achieved the nearly impossible, beating a disease which usually kills children before they get to kindergarten.

The Williams' home is now a normal one with Mason welcoming new friends from the outside. Despite all he's gone through, he's outgoing and happy. And amazingly, his parents who once worried about every detail of his life, now need only give him daily medication and remember his regular check-ups like any other toddler.

Mason is looking at a long healthy life. But who will pay for this miracle? His medical bills, total well over $1 million, much of it not covered by insurance.

"I don't know how we're going to do it, but just to have him back is worth any price," Joe said.

Lightning struck them twice. But the Williams family survived. Peyton and Mason are now free to discover the world which for so long was off limits. And the family who dared not hope for a future is finally planning one.

If you would like more information and would like to contribute to a charitable fund for Mason Williams, write:"COTA for Mason W."Children's Organ Transplant Association2501 COTA DriveBloomington, Ind. 47403

or visit the following Web site:

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