The Forgotten Disease

A One-in-a-Million Diagnosis

Becoming captain of the varsity field hockey team is exciting for any high school athlete. But for Julia Beck, a junior at Cape Henry Collegiate in Virginia Beach, the honor marked a different kind of achievement – victory over a mysterious illness that had devastated her health only months before.

Julia BeckIn March of 2016, near the end of a 10-day school trip to Israel, Julia developed a painful sore throat. By the time the students embarked on the 12-hour journey home, she also had chills, fatigue and severe nausea.

“The plane trip home was awful. I was more sick than I can ever remember being,” says Julia. “I called my mom as soon as we landed and told her I didn’t know what was wrong, but I was scared.”

Julia’s mom, Julie, was worried about her usually bubbly and energetic daughter too. The next day, she took Julia to Partners In Pediatric Care, a CHKD Medical Group practice. “Her throat was so sore, she didn’t even want the doctor to test her for strep,” Julie remembers. “I’d never seen my daughter like this before.” After a thorough physical exam and negative tests for both strep throat and mononucleosis, they went home with instructions for rest and fluids, and to return if her symptoms got worse.

During the next three days, Julia began to have high fevers. Her nausea and vomiting continued and her throat became even more painful. More lab tests, a visit to the emergency room and a chest X-ray ruled out a variety of illnesses, but didn’t result in a diagnosis.

By Sunday morning, five days after returning from Israel, Julia was debilitated. “I was so sick, I could barely move,” she says. “Walking up a few stairs felt like a marathon. My body hurt all over; and worst of all, I couldn’t breathe right. I was afraid I was going to die.” Alarmed, Julia’s mom called their family pediatrician, Dr. Cami Jordan.

Dr. Jordan talked to Julia on the phone and instructed Julie to take her daughter to the CHKD emergency department immediately. When they arrived, Julia was put in an isolation room. “Everyone was concerned that she may have picked up something from her travels,” said Julie. “But no one was sure what it might be.”

A CT scan of Julia’s lungs gave the first clue to her diagnosis. Results showed blood clots dispersed throughout her lower lungs. Doctors immediately started her on intravenous antibiotics and researched recent outbreaks of diseases in the areas she had visited abroad.

The Forgotten Disease_Julia Beck and Dr. FisherEarly the next morning, Dr. Randall Fisher, a pediatric infectious disease specialist at CHKD, was called to consult on Julia’s case. Upon hearing her story, he immediately suspected a diagnosis. After a review of her tests and a conversation with Julia, he was sure his initial instinct had been correct.

“I believe you have a condition called Lemierre’s Syndrome,” Dr. Fisher told Julia. “It’s not contagious, and not at all related to your travel, but it is very serious. The good news is we’ve caught it early, and with the right antibiotics, we can successfully treat it.”

Lemierre’s Syndrome is a rare and frightening illness. Most often seen in healthy teens and young adults, it begins with an infection in the throat that causes an abscess in the deep tissues of the neck. The infection spreads into the jugular vein, causing a bacteria-filled blood clot in the vessel. As bits of the clot break off into the blood stream, they carry bacteria to locations throughout the body where new sites of infection grow. Without treatment, these infections can turn deadly, disrupting the function of vital organs like the heart, lungs, brain or kidneys.

“Dr. Fisher walked in the room, so calm and reassuring. He gave us the answers we had been searching for,” says Julia. “That was the day everything changed.”

Called “the forgotten disease,” Lemierre’s Syndrome is so rare – only about 22 cases occur in the United States each year – that most physicians have never seen it. And in the years before antibiotics, it was almost always fatal. “During my fellowship training in infectious disease at Vanderbilt University, I cared for a patient with Lemierre’s whose illness was very similar to Julia’s,” says Dr. Fisher. “And over the past 16 years, I’ve seen two or three other cases at CHKD, though none quite as sick as she was. I’m grateful that those experiences allowed me to make a quick diagnosis in Julia’s case.”

The diagnosis marked the beginning of Julia’s road to recovery. Dr. Fisher made sure she was treated with the right combination of medications to ease her symptoms and cure her infection. Dr. Gary Woods, a hematologist at CHKD and an expert in pediatric blood clotting disorders, treated her for months with blood thinning medications to eliminate all the dangerous clots in her body. Julia spent 10 days recovering in the hospital and another six weeks at home receiving IV antibiotics and shots of the clot-busting drugs.

“I don’t want to think of what could have happened if we didn’t have access to a doctor with his special expertise,” says Julie. “Dr. Fisher is our hero. He saved my daughter’s life.”

After three months, Julia was cleared to resume all her normal activities, which included a successful return to field hockey this fall at Cape Henry Collegiate, where she was named captain of the team. “It was a difficult and scary experience, but I’m stronger for it,” says Julia. “As awful as I felt, I realized that there were kids in that hospital even sicker than me. I appreciate my health in a whole new way now.”

Julia and her mom each plan to continue their relationship with CHKD as volunteers. Julia plans to apply to the junior volunteer program next summer, and mom has an interest in helping the child life team. “CHKD was incredible. We loved the doctors and the nurses – they couldn’t have treated us any better,” says Julie. “We feel such a connection to the place and what it does for families. We can’t help but want to be a part of that.“