Kent teenager fights for her life against Chronic Neutropenia Kostmann’s Syndrome

Jayne Johnson’s house is like that of most 16-year-olds.

There’s a television in the family room, and a computer well-stocked with video games in the den.

There are her two wiggly little dogs, Taffy and Tyrone, whom she dotes on.

There is her mom, Joey Sexton, who loves her very much.

But for Jayne, that’s where her life, and that of a normal 16-year-old’s, sharply diverge.

Jayne, one of a few thousand people in the world with a rare and possibly fatal bone-marrow disorder, has a house that is a combination sanctuary and prison.

It’s a sanctuary because that’s where she rests, away from communicable illnesses like the flu and colds.

It’s a prison because, thanks to a failing immune system and constant pain, she can’t go anywhere else.

“I want to be done with sickness, to be done with the hospital,” Jayne says, when asked what her greatest wish is. “I just want to be independent.”

Jayne’s illness is called Severe Chronic Neutropenia Kostmann’s Syndrome. What it means is a messed-up bone-marrow system that doesn’t give her the disease-fighting abilities the rest of us take for granted.

Bone marrow has a critical job to do: the specialized cells in the center of our bones are what build our immune systems, generating scores of powerful disease-fighting cells that patrol our bodies through our blood, wiping out foreign invaders, whether they are bacteria, fungi or viruses.

In Jayne’s case, her marrow doesn’t create enough white-blood cells called neutrophils, which fight bacteria.

“We have (about) 5,000 of those cells,” Joey explains, sitting in the family room, while Jayne watches her, sprawled on the couch in the attitude of a typical 16-year-old.

“For Jayne, she’s lucky if she has 500 of them.”

Joey knew from the day Jayne was born that she was special. Blood tests taken shortly after birth indicated that Jayne was woefully low on neutrophils. But the newborn wasn’t sick, either, so Joey was allowed to take her home, and the first four months passed largely without incident.

At five months, though, Jayne started getting boils on her hands. And at 9 months, “she got really sick,” Joey said.

Seattle Children’s Hospital did a bone-marrow aspiration, extracting marrow from Jayne’s bones, to evaluate what was going on with her immune system.

The diagnosis came back: Severe Chronic Neutropenia Kostmann’s Syndrome.

“It’s a super-rare disease,” Joey said, noting that when children do make it to adulthood, the outcome is usually some form of leukemia, a cancer of the blood or bone marrow.

The only cure is a bone-marrow transplant.

Fortunately, at the same time Joey was grappling with the fact her daughter had a dire illness, researchers at the University of Washington were developing a potent drug to treat it. By putting Jayne on a registry for the syndrome, Joey was able to ensure that Jayne would have a free supply of the otherwise expensive drug.

“That drug has been delivered on our doorstep, free of charge, every month for the last 15 and a half years,” Joey said, noting without that assistance, it would cost about $10,000 per month for the medication.

With the drug forcing her bone marrow to create more neutrophils, Jayne improved. But she was not like other kids. The usual spate of mild illnesses that come from being in a public setting could send her to the emergency room with severe fever and infection. Doctors suggested Jayne be kept at home.

When Jayne was 4, Joey, who had done her homework about the disease, made an appointment at the Fred Hutchinson Cancer Research Center in Seattle and asked if it were possible for her daughter to have a bone-marrow transplant.

Hutch officials told her that because Jayne didn’t have a matchable bone-marrow donor, and because she didn’t have a cancer diagnosis, the risks of a transplant outweighed the necessity.

So Joey went home and made a decision: Jayne was going to have as normal a life as possible, while she still had one.

“We decided to start life, just cautiously,” she said.

That meant Jayne went to daycare, and then to school. All Joey asked was that teachers call her if there was a sick kid in class, so that she could take Jayne home. Jayne thrived in the social setting at school, although she wound up going to the emergency room multiple times, and on scores of antibiotic treatments, when she got sick being around the other kids.

Jayne loved sports, too, especially basketball.

“I played in as many sports as I could, then when I came home it was ice packs and ibuprofen,” Jayne says, noting the aches that would come from the physical exertion and her sensitized bones.

But by seventh grade, Jayne was in too much pain to play sports. She wound up with a hip problem nobody could diagnose, and on crutches.

It was the beginning of a long slide backwards, as her bone marrow began to fail, even with the medication she was getting. The pain only increased in subsequent years, as her condition worsened, and the side effects of the once-helpful medication grew.

“I have very bad bone pain,” says Jayne, noting she’s usually between and 8 and a 10 on a pain scale of 1 to 10. “It’s the whole body that hurts.”

She hates it, but doesn’t whine.

“There’s no use in complaining when you can’t stop it,” she says. “I might as well keep my mouth shut and deal with it.”

Jayne left school last fall, due to ongoing issues with the pain. The medications she was given, at various times, left her completely wiped out. She slept constantly, at one point, due to the heavy-duty meds that staved off the terrible ache in her bones.

Today, her life consists of sleeping, laying down, and playing video games “to take my mind off the pain,” she says.

In short, there’s not much quality left, for a teenager who normally would be having slumber parties with friends, and discovering boys for the first time.

But Jayne has a glimmer of hope that she can put all of this behind her, so that she can live in the same world as everyone else.

Last September, her doctors found two units of umbilical-cord blood that could work for Jayne, so that she could receive a stem-cell transplant, using the unformed cells to become specialized bone-marrow cells.

And Joey was able, with Jayne’s doctors, to successfully present a case to Children’s Hospital as to why Jayne should have the stem-cell transplant, even though she doesn’t have cancer.

On July 6, Jayne will be taking her first steps toward that new life. Accompanied by her mom, Jayne will be moving to a special apartment complex in downtown Seattle, set up right near Children’s Hospital. She’ll be getting prepped for what she hopes is her only chance for a normal life.

A new immune system.

It will involve killing off, with chemotherapy, her current failing system. And then, with the stem cells in the umbilical-cord blood, creating a new, normal immune system, that hopefully will remain with her the rest of her life.

If all goes as planned, she will be home by Christmas, and then will need a year to fully recover from the treatment.

There are plenty of risks, though.

Jayne’s body could reject the stem cells. Or the stem cells, in turn, could reject her body, attacking her organs. Because the source is a finite one – two units of cord blood – Jayne could be left with a destroyed immune system, and nothing to restore it, unless doctors can revive it to some degree with some of her failing marrow, extracted before the rest of her marrow is destroyed.

“There’s a 50 to 70 percent chance she could survive,” Joey said of the procedure, noting doctors have been up front about her daughter’s chances.

“They looked her straight in the face and said, ‘you could die.’”

Jayne’s response to them: “If I die, I die trying to live.”

At home, Jayne is businesslike about her decision to go through with the treatment, even with the risks.

“It’s better to be moving forward, actually doing something for myself,” she said. “If this is my only shot, I guess I am going to take it.”

Of her current life, virtually incapacitated from the pain and the medications, she’s pretty much fed up.

“It’s tiring, annoying and completely not fun.”

She dreams of the life she could have.

“I love my parents, but I’m moving to Florida,” Jayne says of what she wants to do, as soon as she’s well enough to be on her own.

Florida is warm, she says, and she had a wonderful time in her younger years, when she visited on vacation.

She wants to live there for a year, before returning home to Washington. Her hope is to attend the University of Washington, to be an oral surgeon.

“I will achieve it,” she says. “I want to make a good income when I am older, to provide for my wishes. And I will be helping people.”

And if her patients complain to her of pain?

“I will never doubt anyone,” she says.

YOU CAN HELP

Family and friends have started a fundraising campaign to assist with expenses, including a wig that Jayne Johnson is hoping to have made from her own hair, so that she can wear it when she loses her hair to upcoming chemotherapy.

You can make your contribution at any U.S. Bank to the Jayne Johnson Fund, or www.savejayne.com.

Visit the Puget Sound Blood Center to learn more about donating bone marrow and blood.

Click here to learn more about Seattle Children’s Hospital.