Kent teen’s hopes for a transplant put on hold, hopes to overcome Severe Chronic Neutropenia Kostmann’s Syndrome

A Kent teen with a rare blood disorder now finds herself in a holding pattern for treatment, slowly regaining her health after a bout of pneumonia.

Because of the lung infection she developed in July, Jayne Johnson, 16, now must wait until October to receive a transplant that may help cure her condition, called Severe Chronic Neutropenia Kostmann’s Syndrome.

She’s beginning to be active again, in preparation for chemotherapy and a stem-cell transplant that will destroy her faulty immune system and hopefully help her grow a new and better system.

“I’ve just started up yesterday – the gym and the pool,” said Johnson, who due to problems with her own marrow, lives in constant pain that emanates from her bones and joints.

“The water helps my joints a lot,” Johnson said of her sessions in the pool, adding of the work she needs to do now: “They said that ‘now is the time to get your body in shape and ready for chemo.’ You’ve got to prepare your body, get it conditioned. I’ve been laying down a lot. I have to start it up again.”

If all goes as planned, Johnson and her mom, Joey Sexton, will be moving to Seattle in October, to an apartment complex not far from Children’s Hospital. It’s at Children’s where Johnson will be prepped for the biggest medical procedure of her life: killing off her present immune system with chemotherapy, and then, thanks to two units of umbilical-cord blood, undergoing a stem-cell transplant that hopefully will enable her to grow a completely new immune system.

If the procedure works and the stem cells take to her body, Johnson could have something most of us take for granted: the chance at a normal, pain-free life, free of fear of getting sick.

If the procedure doesn’t work, Johnson could be facing the reality of a destroyed immune system, with little to revive it besides some of her current bone marrow, which will be extracted before the chemo.

Not many teenagers have life-and-death decisions to make, but in Johnson’s case, Severe Chronic Neutropenia Kostmann’s Syndrome has forced her to look death in the eye, in an effort to have a life.

“If I die, I die trying to live,” Johnson said she told her doctors, when faced with the choice of living with the condition until it worsened, or taking a chance on the procedure now, while she is still relatively healthy.

Severe Chronic Neutropenia Kostmann’s Syndrome is a condition that’s not known to many. That’s because it is a rare illness, affecting only a few thousand people nationally.

Bone marrow, the stuff in the center of our bones, is essentially the cornerstone of our immune system, creating the white blood cells that go out into our bodies, killing off invaders like bacteria, fungi and viruses. But for someone with Severe Chronic Neutropenia Kostmann’s Syndrome, their marrow isn’t doing its job, leaving the person open to severe illness. To children who survive with it into adulthood, the outcome is usually some kind of cancer, such as leukemia.

In Johnson’s case, she was fortunate to have been born shortly after a new, powerful drug was developed, which coaxes bone-marrow cells into growing more white blood cells (Johnson’s marrow specifically has trouble making a kind of white blood cell called a neutrophil.) So she was well enough, for a number of years, to attend school. But when she became sick, it frequently resulted in a ride to the hospital emergency room, and heavy duty doses of antibiotics.

But when Johnson got to middle school, the drug began to lose its effectiveness, and the once-active kid who loved basketball and other sports found herself relegated, exhausted and in pain, to the couch, with ice packs and ibuprofen for comfort.

By the time she was in high school, Johnson could no longer attend school, and was tutored from home through Kentridge High School.

Now, as a 16-year-old, Johnson and her family have readied themselves for the stem-cell transplant, focused on the hope of a normal life.

The pneumonia this summer threw a wrench into the planning for that procedure – Johnson was originally scheduled for the transplant June 22.

“The pneumonia started June 13,” Sexton said of her daughter.

Johnson was rescheduled for July 6, but she has needed the time to completely recover from the pneumonia, so the procedure was delayed again. Sexton explained pneumonia is one of the big risks following a transplant.

“The biggest threat in the first 100 days is pneumonia,” the mother said, noting they wanted to be completely sure Johnson was cleared up before putting her through the intensive treatment.

But there are some bright spots in all this waiting.

Johnson’s doctors will have one more opportunity to check the bone-marrow-donor registry, to see if there is a potential match for the girl, who so far has not had one (and as a result has had to settle for the umbilical cord blood, to develop a new immune system.)

The other hope Johnson has is that she can potentially have some of her eggs removed during the waiting period, so that she someday could have a baby. Once Johnson undergoes the chemo, she will lose that capacity to conceive, due to the damage from the toxins that will kill off her marrow, as well as damaging the chemically sensitive eggs she carries.

In order to undergo the procedure to harvest her eggs, Johnson said she will need to raise about $7,000 (what’s not covered by insurance.)

“It makes me feel really hopeful, and like inspired to make something happen,” she said, of being able to have her eggs harvested, even though the rest of her body isn’t cooperating with her, given her illness.

“I just want to take charge.”

YOU CAN HELP

Family and friends have started a fundraising campaign to assist with expenses related to Johnson’s upcoming transplant and recovery. 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 at www.psbc.org/home to learn more about donating bone marrow and blood.

Learn more about Seattle Children’s Hospital by visiting www.seattlechildrens.org.

(Jayne Johnson’s story of coping with Severe Chronic Neutropenia Kostmann’s Syndrome was our June 25 cover story. You can still read that story by going to the Kent Reporter Web site at www.kentreporter.com.)