You Made the Diagnosis -- HLH

High school student Amanda Weber was a typical teenager with many friends and hobbies. Though born hearing-impaired, Amanda was otherwise healthy her entire life.

"She's just a healthy kid," said Terry Weber, Amanda's mother.

So, when Amanda came down with a cold one winter, her parents didn't think much of it. It was cold and flu season after all, they thought, and it was probably just a typical bug. But by March, Amanda wasn't any better -- she was much worse. A trip to the family pediatrician revealed Amanda had mononucleosis.

"The pediatrician prescribed an antibiotic because she has a cochlear implant," Weber said.


A cochlear implant is a hearing aid that is attached directly to the nerves inside the head. If an infection develops, significant problems can develop.

With a diagnosis of mononucleosis, Amanda and her mother returned home. They thought that like most kids who come down with mono, Amanda would be back on her feet in several weeks. However, only days later, Amanda's health spiraled downward. She developed chest pains and a high fever… and she was vomiting.

Headed to the Hospital

After she returned to the doctor, Amanda's condition grew alarmingly worse.

"She was in pain, and she was weak, and she was tired, and she didn't feel very well," Weber recalled. "You could see that she was starting to kind of decline. She was having a hard time focusing."

Amanda's doctor told them to go straight to the emergency room. Amanda remembers that day well.

"[My mom] called 911. I took an ambulance," she said.

When Amanda arrived at Children's Hospital of Philadelphia, Dr. Vijay Srinivasan ran several tests. They revealed troubling signs, showing that Amanda's kidneys were only functioning at 25 percent.

"She had multiple organs not working, that were in the process of failing," Dr. Srinivasan said.

Soon physicians, nurses and specialists were surrounding Amanda's bedside.

"I was really, really weak," Amanda said. "And that's all I remember."

Amanda's mother, however, remembers the day vividly.

"The last straw was when a kidney transplant surgeon came in," she said. "I just wanted to say, 'She's not that sick, she doesn't need a new kidney.'"

Toxic Shock Syndrome?

Doctors were concerned that Amanda was experiencing a severe infection. In addition to her other symptoms, she had developed a rash. They suspected she had a condition known as toxic shock syndrome, an illness caused by toxins released from bacteria.

Emergency room physicians put Amanda on strong antibiotics to treat a wide array of bacteria. They also moved her to the pediatric intensive care unit. Weber kept waiting for the antibiotics to kick in.

"We were just gonna stay there for the next couple of days," she said. "Then we were going to go home. Thank God I didn't know what was about to happen."

"Primetime" gave you the chance to be the doctor, and asked you what you thought Amanda was suffering from.

A. An infection -- either mono, toxic shock syndrome, or an infected cochlear implant.

B. Kidney disease

C. An Immune system disorder

D. Cancer

The Real Diagnosis

Amanda became so sick that she had to be placed on a ventilator. She was put to sleep with strong painkillers and connected to a machine to help her breathe. The doctors began to consult infectious disease specialists, to see if they could help come up with a diagnosis.

Terri Weber recalls that, "They were starting to talk about things like Rocky Mountain Spotted Fever…and, you know, some things that I'd never even heard about."

The rash that doctors noticed in the ER had spread over most of Amanda's body. And because her cell counts were very low, doctors began to consider cancer, or a disease called HLH.

HLH (hemophagocytic lympho histiocytosis) is a rare disorder where the immune system goes haywire and attacks healthy cells, and leukemia, in its acute form, is the most common childhood cancer. Both diseases can be diagnosed by looking at a bone marrow sample under a microscope.

Doctors performed a bone marrow biopsy, and Amanda was diagnosed with HLH.

"While it was an extremely serious disease, I was so relieved," said Terri Weber. "After seven or eight days, we finally had a diagnosis."

It would be six weeks before Amanda was able to breathe on her own again, but ultimately she was discharged from the hospital, and today she is completely recovered.

So, if you picked option C, immune system disorder, you were right.