LADD – On a warm, breezy Friday night in the middle of March, four kids are playing in their backyard overlookinga cornfield. Squinting from the sun beginning to set, mom and dad stand by and watch their joy.
The youngest of the four is3-year-old Rebecca. She is wearing a superhero cape and running through the field giggling. Her sister and brothers chase and twirl her around before they all plop down on the grass laughing and taking turns to hug her.
This is the Bussey family – Julia, Carter, Wyatt, Rebecca and parents Amy and Brent. Amy teaches English and theater and directs the theater program at Stuarts Draft High School, and Brent manages the local Sprint store on Main Street.
You would never know by looking at Rebecca that there is anything wrong, that her family is thankful she is alive. For them, every day they have with her is a celebration.
“Right now, she’s doing great,” says Amy. “We’ll fight for her.”
Rebecca has a rare disease, Systemic Juvenile Idiopathic Arthritis. SJIA is not your grandmother’s arthritis. Known as Still's disease in adults, about 300,000 U.S. kids under the age of 16 have JIA. Ten to 20 percent of them have the systemic form, which means the disease not only affects the joints but also other parts of the body, including the liver, lungs and heart. Idiopathic means the cause is unknown.
“She’s a trooper, and tries to be happy no matter what,” says Amy. “And I am trying to be positive, too, but I hate this disease.”
Brent picks up Rebecca and looks at her tiny hand as she grasps her cape. He’s quiet and contemplative. Amy is hopeful, but you can see she is scared. Loving parents, both of them are humbled by circ*mstance, with a sadness behind their eyes.
“I feel like I’m waiting for the other shoe to drop,” says Brent. “I’m constantly in a state of alert waiting for something to happen.”
Amy wonders, could it have been the chemicals used in the cornfield? That’s what parents do when their children are diagnosed with something unknown. In theuncertainty, parents search for answers. They wonder, did we do something wrong? Was it this place? My age? Something I took while I was pregnant? Could it be the water? Could the answer be hidden in the cornfields?
“There is so much anxiety and fear at the unknown diagnosis,” says Amy.
It's an incurable disease with information so new and uncertain that their doctor made them promise to resist the temptation of researching it on the internet. Medications are expensive. What's next is unknown.
She became very sick and almost died, but that could be when the condition ends, a one-time problem. She could remain in remission for years. Or she could be on a lifelong roller coaster of hopeful ups and terrifying downs. The third possibility is more ominous:Rebecca getting sicker and sicker from a potentially fatal disease.
“That’s our fear,” says Amy. “Lung complications are a thing that a lot of people deal with, with SJIA. We are hoping and praying that this does not turn into interstitial lung disease like a lot of kids with this get.”
An autoimmune and auto-inflammatory disease, it has resulted in multiple ear infections, strep, flu, pneumonia three times and a pleural effusion that required chest tubes and surgery.Any inflammation confuses her immune system to ramp up and attack itself.
“Her condition makes her more susceptible, and it also makes her body’s reaction to things more extreme,” says Amy. “When her immune system gets turned on, it goes off the charts.”
“It doesn’t differentiate between the good and the bad,” adds Brent.
Because her form of the condition is systemic, she can experience a condition called MAS – macrophage activation syndrome – a life-threatening complication that can occur in systemic rheumatic diseases.
“The systemic feature is what is the most difficult,” says Amy. “That’s the part that’s scary because it can cause organ inflammation, inflammation of the brain, inflammation anywhere in the body. There’s a little girl – the inflammation is in her brain, and she’s had 10 surgeries.”
SJIA and MAS are so rare, each member of Rebecca’s family carries an awareness card to hand to emergency physicians should Rebecca wind up in the hospital. Since they joined an online support group, five of the group's children have died, and only four pediatric rheumatologists in Virginia are qualified to treat Rebecca.
They're lucky, Brent says. She has one of the best doctors. He’s in such demand and so dedicated that it is not unusual for him to answer phone calls from frightened parents in the middle of the night while on vacation. Brent knows because he’s one of them.
“Absent having a working crystal ball, we don’t know what the future will be,” says Brent. “What will be the new ‘normal’ for our lives and hers? We have a long road ahead of us.”
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‘Little Bit’
After playing outside, the family sits down in the living room. The kids are on the floor by Rebecca’s dollhouse. Big sister Julia, now a sophom*ore in college, sits by the coffee table. Mom and dad are on the couch and talk about what started happening when Rebecca was a year old.
In the fall of 2016, Rebecca started to get sick and wasn't getting better. She got an ear infection, then strep, a cold, strep again, the flu, pneumonia, another ear infection.
A really good sleeper, as an infant Rebecca was the only one who slept in her own bed all night. But she had trouble gaining weight, so they couldn’t let her sleep through the night. It was Thanksgiving when she started to get sick and would climb into her parent's bed unable to sleep unless it was with them.
She started to have a high fever, and they couldn’t figure out what was causing it. She wasn’t testing positive for anything.
“She’d be OK in the morning, and then every night she’d have a fever,” says Amy. “Every day, right about 3:30, the fever would go up.”
The fever would last four months, reaching 103.5 degrees.
“That’s one of the hallmarks of the diagnosis,” says Amy. “A fever that spikes at the same time of the day, every day.”
Rebecca was in severe pain, with hot, swollen joints and was lethargic at night. Allshe could do was sit on her daddy’s lap. She suffered from diarrhea and vomiting along with respiratory and ear, nose and throat infections.
Brent took her to the pediatrician four days in a row. After 16 consecutive days of a high fever, the doctors told him to take her to the emergency room at University of Virginia Health System University Hospital. They went in that night, and Amy stayed at the hospital with Rebecca for more than a week.
“It was Saturday morning that they came to us,” Brent remembers. The hospital called pediatric rheumatologist Dr. AaratPatel while he was at a conference in Baltimore. Patel told them to try naproxen to see what would happen.
“The first dose of naproxen, the fever went down. It was almost magical.”
Brent reached out to family and friends online to update them.
“‘Little Bit’ has been home from the hospital for almost two weeks now. She hasn’t had any fever to speak of for well over a week now. But she’s still a sick little girl.”
A diagnosis of exclusion was the key. Once Patel ruled out leukemia and lymphoma, he told them he was certain it was SJIA based on how well she responded to anti-inflammatory medication, along with the hallmark sign of an everyday fever for a month.
“Those days when we thought Rebecca might have cancer were among the worst of my life,” says Brent. “Then, there was the relief of hearing that she definitely doesn’t have cancer, followed by the earth shatteringly painful realization that this diagnosis isn’t a whole lot better.”
“I gotta bring you back down to Earth,” Amy remembers Rebecca’s doctor saying. “This is not necessarily good.”
After the fevers went down, they discovered Rebecca was in considerable pain. Amy’s grandfather had passed away; while attendinghis funeral in Tennessee, her mom, who is a physician, said, “Amy, she’s in pain.”
“She was waking up in the middle of the night screaming in pain,” says Brent. “Every night.”
“She was really, really hurting,” says Amy. “We thought we were losing her. We thought she was dying. It is terrifying.”
“We went through that twice in the space of one year,” says Julia. “Where she got really sick, and we didn’t know if she was going to make it to the next hour.”
“The second time she was hospitalized,” says Amy, “I thought, I’m losing my baby.”
“That was during the lag time between him writing the prescription for the Ilaris and the approval,” says Brent. “Three months.The initial prescription for Ilaris was written on Oct. 11, 2017. Her first dose was administered on Jan. 11, 2018.”
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A $37,000 cure
A car pulls into the gravel driveway and the conversation comes to a stop.
The home health care nurse has arrived to give Rebecca a monthly dose of the biologic medication, Novartis’s Ilaris. The small vial costs anywhere from $16,000 to $37,000 per dose depending on insurance coverage. It was those three months waiting for approval that almost killed Rebecca and resulted in a $300,000 hospital surgery bill, while the family waited for their daughter's medication.
“The straw that finally broke that camel’s back was the rheumatologist calling them and saying, ‘I want to know why you’re denying it. I want to talk to your medical evaluation board, and I want to know there’s a pediatric rheumatologist sitting on it.’ They said, there’s an adult rheumatologist. He said, ‘No. They don’t get it. I want a pediatric rheumatologist on it.’”
While their health care insurance company Aetnaapproved the medication, the family still has to pay a portion of the cost negotiated by their prescription benefits company, which owns the specialty pharmacy that provides the biologic.
“Our prescription benefits through Aetna are through Express Scripts who own Accredo,” says Brent.
Since the biologic is as rare as the disease it treats, there areonly three specialty pharmacies in the country that provide it. SJIA specialty pharmacy advocates help parents get the medication shipped overnight since this isn't a treatment where someone can miss a day.
The insurance coverage and cost negotiations varyso drastically that none of the families with SJIA kids can get a straight answer on price. Brent has given up trying to find theanswer after calling the pharmaceutical company, insurance provider, prescription benefits manager, specialty pharmacy and asking other SJIA parents.
“I’ve never been able to get a straight answer from Accredo regarding cost without insurance,” says Brent. “They simply won’t answer the question. We were initially told $25,000 per dose by the rheumatologist. One of the parents at a conference in Cincinnati last summer said it had risen to $37,000, and there was a Novartis repthere who didn’t confirm or dispute that figure.”
'We have to take a third of this and just throw it away'
Now on his 16th visit with the Bussey family, there is a comfort level as nurse Dan Wyattenters throughthe back door and into the kitchen. They all fall into rhythm together as they begin to distract and soothe Rebecca while Wyatt fills up the syringe with the medication.
Rebecca sits on the kitchen island while Julia plays patty cake and touches nose to nose, as mom and dad slowly gather round her.
When Wyatt is ready to give her the shot, the three help to hold her down because shots are scary for little kids. After he is done, they put a kid’s Band-aidon Rebecca’s arm while making sure she knows what a brave warrior princess she is until the fear and tears are replaced with happy laughter.
They started Rebecca on 50mgof Ilaris, then increased it to 75 and then 100. Each time, the family has to go through an approval process with their insurance. The vial comes in set milligram increments, so any remaining medication inside the vial must be thrown away.
“The most painful part is this is a 150mgvial,” explains Brent. “She gets 100mginjected, but after oxygen is introduced, when he draws it out with the syringe, it has to be thrown away. So we have to take a third of this and just throw it away.”
Before starting the biologic, she was on steroids daily, naproxen twice a day and methotrexate, a chemotherapy medication. Because of her compromised immune system, being off the steroids has resulted in a major improvement in her overall health. Now she’s on naproxen only as needed.
Little Bit is no longer too little or underweight. She had fallen physically behind, but she’s made up all of that, says Amy, and intellectually, says Brent, they don’t see anything wrong.
“What a difference one year (and some great doctors and magical medications) can make,” says Brent. “Rebecca still struggles. She probably always will. But she’s strong, and she’s tougher than anyone I know. She’s a warrior.”
Last summer, the family traveled to Ohio to participate in a study at Cincinnati Children’s Hospital, the first of its kind for kids with SJIA. About 40 families attended, which helped the family grow their support net while living in the unknown and trying to find answers. But it also gave them a close-up view of what those three roads look like ahead.
Amy and Brent know Rebecca isn’t yet on the first paved road of remission, but while the Bussey family walkdown that second bumpy road of ups and downs with their Little Bit warrior princess, they hope they will never find themselves going uphill on that last road.
“What are we looking at?” Brent asked Patel during one visit. “Just please level with me,” he pleaded. “And the doctor said, ‘I will not stop until this child develops and has a normal childhood. I will not stop. I will not give up.’”
And neither will Rebecca’s family. They will hold her hand in the grass, the cornfields, the kitchen, hospital, and on any road, hill or mountain because this is the Bussey family, and whether you can see it or not, they are all wearing superhero capes.
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To learn more about SJIA, visit:http://autoinflammatory.org/sjia.php.
Reporter Monique Calello can be reached at mcalello@newsleader.com. Follow her on Twitter and Instagram@moniquecalello.
