Medical Mystery: A lump, and then a really bad headache

My patient was 20 - legally an adult - when I saw him for a lump in his right armpit he had noticed the day before. It didn't really hurt, but it was sometimes sore when he moved his arm. Other than that, he was fine. No fevers, weight loss, or night sweats. No lumps in his breast. No sores in his armpit, so it probably wasn't an inflamed lymph node.

When I touched the lump, my heart sank. It had a worrisome rubbery texture, and even though it moved freely, it wasn't tender to touch. This was not good.

I carefully examined him for other enlarged nodes, and was only slightly relieved to find none. Still, the first thing I needed to rule out was some form of lymph node cancer (lymphoma.) He wouldn't let me do blood work that day, but I ordered a CT scan.

I had been this family's doctor for years, and although the patient was over 18, his father was a force to be reckoned with. (The only greater force than his father was his mother.) I was quickly bombarded with phone calls. What was wrong? Why did he need a CT? What did I suspect? My answer - "You'll have to talk to your son about that" - did not suffice. The more vague I was, the more alarmed they became.

Three days later, he had the CT, and two days after that, I saw him and his parents together for an extended appointment to discuss what were ominous results. The lump under his right arm was indeed a lymph node, but he also had enlarged nodes in his left armpit, chest, abdomen, and around his heart. His spleen, an organ sometimes called "the largest lymph node in the body," was also enlarged.

He needed a biopsy, but he was furious at me for including his parents in the discussion. He refused blood work again, and signed a release to transfer his records to another physician. I didn't take it personally. I knew he was more scared than anything else, and with good reason.

He saw his new doctor, who told him that the CT didn't mean anything, but that he should have the lump biopsied. Then his mother called me: He was nauseated and vomiting.

"I can't do anything," I replied. "You need to call his new doctor."

"But you've been taking care of him since he was 3 years old. He didn't really want a new doctor."

"But he's an adult. He's entitled to make his own decisions."

She wasn't happy.

Her son saw the surgeon, who scheduled the biopsy along with routine preoperative blood work.

His mother called again. "He's having terrible headaches!" she said. "You have to do something!"

When the surgeon got back the patient's preoperative blood work, she wanted me to do something as well: get him into the hospital, fast. His white blood cell count was 167,000. Normal range is 4,500 to 10,000. More than 60 percent of his were immature forms called blasts. He had acute lymphoblastic leukemia. Worse, he was in "blast crisis."

He was having headaches because all those white blood cells were making his blood literally too thick to flow properly through his brain.

I couldn't wait for his new doctor. Frantically I called, but the patient's phone went straight to voicemail and there was no answer at his house. I had to call his mother. His aunt raced home, where she found he had turned off his phone to nap. He was rushed to the Hospital of the University of Pennsylvania, by which time his white count was nearly 200,000. At the rate they were increasing, he was hours away from death.

He underwent pheresis, a process that can remove selected cells from the blood and return the rest to the patient. His headache was gone in one hour. But it was just the beginning of this young man's ordeal.

Acute lymphoblastic leukemia occurs in children and adults, with a peak incidence between ages 2 and 5. Cure rates in kids approach 90 percent with intense chemotherapy regimens, but infants and adults don't fare as well. Because of that, they generally are not subjected to the same treatments. Scientists have discovered, however, that younger adults (defined as ages 16 to 39) with acute lymphoblastic leukemia may be more biologically similar to pediatric patients than to older adults. So my patient elected to enroll in a clinical trial in which he received the more intense pediatric version of chemotherapy.

He spent months at a time in the hospital. His blood counts fell, he developed neuropathy so severe he could barely walk, he suffered from rashes on his skin and mucous membranes. Along the way, he befriended other patients with the same disease, not all of whom survived. But he did.

Currently disease-free and back in school, he has officially forgiven me for talking to his parents. He is now an adult in every way.