Real World, Real Life

Young Man Battles For His Life Against Rare Autoimmune Disease

The author’s nephew suffers from a rare form of familial hemophagocytic lymphohistiocytosis. His organs shut down and he’s placed in a medically induced coma. Meanwhile, costs mount to $4.9 million, most of it paid by an employer-sponsored health plan.

Robert Calandra

A few weeks before Christmas, in the toy-littered playroom on the pediatric intensive care unit of the Children’s Hospital of Philadelphia (CHOP), my sister Denise and her husband, Peter, sat on a sofa, caved in against each other, listening to the doctors.

Nine months of helping Luca, 26, their only child, battle hemophagocytic lymphohistiocytosis (HLH) had left them mentally, physically, and emotionally drained. I was asked to join the consultation to fill in the gaps of things they didn’t—or couldn’t—take in or process.

Since March, Luca had endured a series of raging fevers, countless emergency room visits and hospital admissions, and a diagnosis of lymphoma that took several nerve-wracking days to eliminate.

He had been prescribed massive courses of body-altering steroids, followed by rounds of chemotherapy, a medically induced coma, kidney rescuing dialysis, a bout with blood poisoning sepsis, and a now second life-saving medically-induced coma.

In the surreal setting of a hospital playroom, David T. Teachey, MD, an HLH expert at CHOP, and Aaron Donoghue, MD, the PICU attending physician, had come to tell us they had done all they could. The disease was causing Luca’s organs, especially his kidneys, to shut down. If his kidneys didn’t start working on their own in the next few days, there is nothing more they could do.

My nephew was a young man standing on the edge of a ledge between life and death, balancing on his heels.

HLH is a rare disease that results in an out-of-control immune response turning on the body. It may be inherited in an autosomal recessive manner or triggered by an infection. The symptoms include fever, enlarged liver or spleen, cytopenia, and neurological abnormalities.

HLH’s first assault on Luca’s life came almost a decade ago when he was a junior in high school. It started with mononucleosis. But there were other symptoms that didn’t fit with mono. So he went to see his pediatrician. “She said he had HLH,” remembers Denise. “She had just lost a patient to it so she knew the signs and symptoms.”

After a week at CHOP and two months of steroids Luca was his old self. HLH should have been in the rearview mirror of his life. And it was until March 2016 when after feeling “perfectly healthy,” Luca spiked a 104 degree temperature. A CT scan showed inflamed lymph nodes throughout his body. Steroids worked awhile but the disease started to take off again. Teachey gave Luca three choices. “Chemo,” says Luca, “which he said he didn’t think would work; have a bone marrow transplant, the ultimate cure if you have the gene; or die. I asked what would happen if I didn’t do anything. He said you can’t stay on steroids so ultimately you will die anyway.”

A bone marrow transplant absolutely terrified Luca, partly because of a book he had read that outlined everything that could go wrong with a transplant. He chose chemotherapy. “My idea was to get the chemo to put it into remission and 10 years from now they might have some kind of gene therapy,” Luca says.

Days before beginning chemotherapy, Teachey called. The good news: They had a bone marrow donor match. The bad: His blood work showed that Luca had familial HLH—and a rare form at that. Still, Luca elected chemo, which he tolerated well, but continued treatment with steroids added 85 pounds to his slender 5’8” frame. In late October doctors reduced his steroid dose. His HLH went into overdrive. For several days Luca laid in bed with a fever, guzzling bottles of water like happy hour beers. On November 2 he was emergently admitted to Pennsylvania Hospital, where he coded. The next day Luca was transported across the city to CHOP. He would not step outside again for six months. Before he was transported, a doctor at Pennsylvania Hospital had one last piece of advice for Luca.

“He said, ‘Luca, you better put on your boxing gloves, because you’re in for a hell of a battle,’” Luca says.

Luca was 25 when he fell ill. Because of the popular ACA provision that allows children to stay on their parents’ insurance, he was covered. The family’s insurance is through my sister’s job as human resource manager for Children’s Surgical Associates, the surgical group practice at CHOP.

Her plan is Independence Blue Cross Personal Choice High Deductible. She has a $3,000 annual deductible, but her employer covers half of it. The co-insurance is 10% until a maximum out-of-pocket limit of $5,500.

A few years out of college, Luca worked mostly odd jobs while pursuing a writing career. But last fall it was clear that Luca wasn’t going to be able to work. He was turning 26 in November and would have to go on Medicaid. At the beginning of November, Denise petitioned Independence Blue Cross to approve him as a disabled dependent. The company agreed.

With all that Luca, my sister, and my brother-in-law have been through, it would have been much worse if they hadn’t been financially protected by good, employer-provided insurance. As of June 28 of this year, the bill for Luca’s care was a staggering $4.9 million, of which the family has paid $6,288.54, or about a tenth of 1%. HLH is one of the many rare autoimmune diseases that can be unimaginably expensive to treat. Even with their excellent insurance, the family still has had to dip into their savings and take out a home equity loan because of the loss of income from Peter’s business, an auto repair shop in the Queen Village neighborhood of Philadelphia.

Peter’s shop is a fixture in his neighborhood. So while his customers weren’t having their cars repaired, they still contributed to the family. A local bar held a benefit while others randomly sent checks. Denise’s co-workers gave her gift cards and monetary donations. A family member ran an “HLH Sucks” T-shirt sale. All the money went into an account set up to pay Luca’s bills.

“If it wasn’t for all of those people doing what they did….” Denise trails off. “There are a lot of gifts that came from what we went through. There are good people in this world who are loving and caring. It is a blessing when you are on the receiving end of it.”

While the rest of the world went about its business, my sister and Peter spent most of November and December 2016 in CHOP’s intensive care unit. Luca was put into a medically induced coma to allow his body to rest while they treated the HLH. Two huge monitors hung on the wall to the right of his bed tracking his vital signs. We watched those numbers like nervous stock market investors. It was a bear market when his blood urea nitrogen rose. A higher platelet count made us bullish.

Things were going well and Luca was getting ready for the bone marrow transplant but he became septic. This time the medically induced coma was necessary to save his life.

As that meeting in the playroom at CHOP with Teachey and Donoghue wound down, my sister had one last question. It was flu season and the hospital was allowing only four visitors per patient. Would the hospital allow people to say good-bye. The doctors said they would make the arrangements. After the meeting Denise and Peter took a walk.

“Pete said we can really lose him,” Denise remembers. “He said, `We were blessed to have him for 26 years. If this is God’s plan, then it’s God’s plan and we have to learn how to accept it and go on. It will be hard but we will.’”

Sometime in the early morning hours Denise and Peter were startled awake by a very excited doctor.

“We know where the sepsis is and we can treat it,” Denise remembers the doctor saying. Three days later Luca, who was slowly being brought out of the coma, extubated himself. His nurse was just leaving the room when she saw his hand rise up. Before she could react he yanked out his breathing tube. “I couldn’t stand the tube,” he says.

There were a few detours yet ahead for Luca on the road to transplant. While in physical therapy, he would contract respiratory syncytial virus. Prior to his bone marrow transplant he had to endure two weeks of three different types of chemotherapy aimed at destroying most of his flawed immune system so that a new one without HLH’s abnormal autoimmune tendencies could take its place.

Sometime around 7 p.m. on February 15 of this year, a nurse entered the room with a bag half filled with what looked to me like a thick tomato sauce, hung it on the pole and attached it to a line going into a central line inserted in Luca’s chest. An hour later he had a new, but inactivated, immune system. Six months after transplant Luca did suffer a short period of graft-vs.-host disease that affected his skin. But now he wants to start rebuilding his life.

“I can honestly say that I feel good, my body feels a lot better,” says Luca, who wants to write screenplays. “I think this has made me a better person, a stronger person.” The experience “hasn’t changed my goals or aspirations. But I think it has pushed me to another level that most people don’t get to.”

Robert Calandra is a health care writer in Philadelphia and a regular contributor to Managed Care.

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