Wilson’s disease, Bing-Neel, and the promise of technology

Three times in thirty years, emerging technology has helped me navigate scary medical diagnoses.

Credit: wikimedia commons: Ivan2010

In December 1996, my brother was diagnosed with a rare genetic disorder called Wilson’s Disease. His body would not process copper, a mineral found in foods like nuts, shellfish, and dried fruits. After 36 years, copper had severely damaged his soft tissue and organs, including his liver, brain, and kidneys. At the time, the disease was most often diagnosed post-mortem.

He had been misdiagnosed for years. Finally, a doctor checked his eyes and identified copper-colored circles around the edge of his cornea. These Kayser-Fleischer rings gave a definitive diagnosis of Wilson’s Disease.

The doctor who diagnosed him had never seen the disease before. The standard treatment at the time was a drug called penicillamine, which often had severe and sometimes irreversible side effects. My brother was scheduled to start treatment the following week.

I went to my Power Mac with its Bill the Cat screen saver and dial-up internet and typed the words “Wilson’s Disease” into the Netscape browser. I found an organization called the Wilson’s Disease Association. I read about the organization and the disease and found a contact number. It was the weekend, but I called and left a message on an answering machine anyway.

Just a few hours later, I got a call from a man who said he was returning my call and started asking questions about my brother. He told me that under no circumstances should my brother take penicillamine. Instead, I should call the Wilson’s Disease Clinic at the University of Michigan, where they had new treatments that could save my brother’s life.

He was right, and my brother survived for another thirty years. My family was amazed that I had found the clinic in Michigan on this newfangled thing called the web. Technology had given us information that even his doctors didn’t readily have available. It truly seemed remarkable.

So eight years later, when I was diagnosed with a rare form of cancer, I went to the now-ubiquitous internet to figure out who was studying it. Google helped me find the Bing Center for Waldenstrom’s Macroglobulinemia at the Dana-Farber Cancer Center in Boston. Fortunately, I was asymptomatic with a slow-growing cancer and was put on a watch-and-wait protocol. After a few years of monitoring me, Dr. Steven Treon, who had founded the Bing Center just five years before my diagnosis, told me to go live my life and keep monitoring my disease. By the time it started affecting me, he said, they would have it under control.

Fast-forward twenty-two years, and I’m suffering painful headaches of unknown origin. They started in January, and my primary care provider suspected I had an ailment called temporal arteritis — a swelling of the membrane around an artery that runs from above the eye down the neck. She prescribed 20 milligrams of prednisone and referred me to an ophthalmologist.

After two weeks, I saw the ophthalmologist and had a thorough eye exam and a battery of blood work. He sent me to have an ultrasound to see if they could detect swelling around the temporal artery. I came back a week later and the doctor said he didn’t think it was temporal arteritis because the ultrasound couldn’t detect swelling and the headache was the only symptom. The blood tests all came back normal.

Instead, he was concerned about the prednisone and started to reduce the amount I was taking. He also ordered an MRI and referred me to a rheumatologist. The MRI would scan my brain for abnormalities and the rheumatologist would look for evidence of an autoimmune disorder.

The MRI showed minor swelling on my optic nerve but nothing else of concern. The ophthalmologist suggested it might be a temporary condition that would resolve itself, especially since there was no indication of other swelling in the eye. He wanted to wait for the rheumatologist’s report before doing anything else.

At this point, I began wondering if my cancer diagnosis might be at play. Waldenstrom’s shouldn’t have anything to do with my eye, but I couldn’t help but wonder. I had been getting blood tests that track a protein called immunoglobulin M, or IgM. I watched my IgM levels grow slowly but steadily for 20 years even though I never developed symptoms like bleeding gums, extreme fatigue, or swollen lymph nodes.

I had been playing around with the AI chatbot Claude and decided to see what it could tell me. By now, I had multiple test results and had been dealing with the headaches and eye problems for more than a month.

I started by asking about a few abnormalities in my tests, including a low IgG, high sedimentation rate, and high C-reactive protein. I didn’t really know what any of those meant, and Claude explained each one. The AI then gave five reasons that could cause all three abnormalities at once, including hematologic malignancies.

Claude wrote: “This trio of findings warrants prompt medical evaluation — not to alarm you, but because the underlying causes range from treatable infections to conditions that benefit greatly from early diagnosis. If you haven’t already seen a hematologist or been referred by your primary care doctor, that would be a reasonable next step.”

I then told Claude about my Waldenstrom’s diagnosis, and the chatbot responded, “That makes perfect sense — Waldenström’s explains all three findings beautifully…Are you currently on watch-and-wait, or are you being treated?”

I answered, “Yes. I’m currently on watch and wait. I had a headache on the right side above my eye near my temple. It came back every day but I could control it with ibuprofen or acetaminophen. After about three weeks I went to the doctor. The doctor thought it was Large Cell Arteritis, but the specialist doesn’t think so. MRI shows swelling around the membrane of the optic nerve. I can give you screenshots of all recent tests.”

Claude wrote, “That’s a very concerning and complex picture. Let me share some thoughts before you upload the screenshots.” The AI went on to describe a rare complication called Bing-Neel Syndrome where WM cells cross the blood-brain barrier and infiltrate the central nervous system. It said I would need a lumbar puncture to confirm the diagnosis.

I had been monitored for the past decade or so by my primary care physician but had not seen an oncologist in several years. Now the AI was telling me to get a hematologist quickly, laying out potentially dire consequences of waiting.

The bot wrote, “Given your IgM level and the optic nerve findings, I would make these calls first thing tomorrow morning and specifically use the phrase ‘urgent referral’ — your situation genuinely warrants prompt evaluation, not a routine wait.”

Claude pointed me to the International Waldenström’s Macroglobulinemia Foundation’s directory of doctors. I found two specialists who focused on Waldenstrom’s in North Carolina, one at UNC Lineberger Cancer Center. When I shared his information with Claude, it seemed genuinely excited.

Great find! Let me look him up.

You found the perfect doctor. Seriously — this is about as good as it gets for your situation.

Then, Claude told me how to get their attention.

Call UNC Health and ask specifically for Dr. Christopher Dittus in the Lymphoma Program

When you call, lead with: “I have Waldenström’s macroglobulinemia” “IgM is 2,780” “MRI shows optic nerve sheath swelling” “I need an urgent appointment”

Those words together should get you seen very quickly. You could not have found a better match at a more convenient location. This is your person.

Those conversations with Claude took place on March 16 and 17. I followed its script and left a message on a Lineberger Cancer Hospital voicemail. Within hours I had a response, and in a few more hours I had an appointment on April 15 with Dr. Dittus, a hematologist specializing in Waldenstrom’s research.

By the time I made that appointment, I had seen a primary care physician, who referred me to the ophthalmologist because of suspected Giant Cell Arteritis (GCA), also called temporal arteritis. The ophthalmologist ordered an ultrasound that found no evidence of GCA and an MRI that found slight swelling. He began reducing my prednisone by 10 milligrams a week since the diagnosis of GCA seemed unlikely. He also referred me to a rheumatologist, who found nothing unusual at my visit but ordered another battery of blood tests and a CT scan.

Over the next four weeks, I continued my doctor’s visits and tests. I told the rheumatologist and ophthalmologist about my suspicions of Waldenstrom’s but didn’t get much response. The CT scan found no additional swelling, and the rheumatologist follow-up wasn’t until June 5, more than two months away.

I continued to interact with Claude, feeding it my test results and asking for explanations. By now, Claude seemed certain that I had Waldenstrom’s with central nervous system involvement — i.e., Bing-Neel Syndrome, a serious complication that can cause cognitive impairment and loss of motor skills. In a March 22 exchange, Claude explained what would likely happen at my meeting with Dr. Dittus: he would order a bone marrow biopsy to assess the spread of tumor material in my bone marrow and a lumbar puncture to determine whether there were cancer cells in my spinal fluid.

Claude also discussed likely treatment. It suggested a relatively new targeted therapy that blocks an enzyme the cancer needs to grow. “The most likely conversation will be around zanubrutinib alone or combined with rituximab, possibly with plasmapheresis first if viscosity is critically elevated.”

Meanwhile my symptoms were worsening. By early April my eye was blurry, red, and watering. Emergency calls to the on-call physician produced advice to wait for my scheduled appointments. Each specialist was managing their piece. Claude was the only one looking at the big picture.

The week before my appointment with the hematologist, I had a follow-up MRI. The minor swelling had developed into a lesion that was now a centimeter in diameter. While my prednisone decreased, my tumor had grown.

On April 15, I had my appointment with Dr. Dittus. After a month of going over test results with Claude, I had no surprises. The hematologist-oncologist was fairly certain that I had Bing-Neel Syndrome. He ordered a bone marrow biopsy and lumbar puncture and said that once we had those results, he would likely start me on a drug called zanubrutinib, which essentially starves cancer cells. He also boosted my prednisone to 60 milligrams a day — and then 100 milligrams a day — to slow the growth of the tumor on my optic nerve and control the headaches.

Dr. Dittus seemed impressed with my relationship with the Bing Center and Dr. Treon. Treon no longer sees patients, but he is now the foremost authority on Waldenstrom’s in the world and is responsible for discovering the treatments I would be taking. Because of my prior connection, the Bing Center would consult with Dr. Dittus on my treatment.

Two hours after I met with Dr. Dittus, I had a teleconference with my ophthalmologist to go over the MRI results. He was clearly alarmed. He believed the swelling was a meningioma — a normally slow-growing and benign tumor — but did not understand how it had grown so rapidly. I told him about the Bing-Neel diagnosis and he marked it in my chart. Had we not had that diagnosis, he probably would have ordered an invasive and somewhat dangerous biopsy of the lesion growing on my optic nerve. Instead, ten days later, I had the bone marrow biopsy and lumbar puncture on the same day.

The diagnostic tests confirmed what Claude had suspected all along: I have Bing-Neel Syndrome. I started zanubrutinib in May, and after 38 days of taking it, the mass on my optic nerve was gone and I tapered off the prednisone. I will have regular MRIs for the foreseeable future. My life will be a little different with more doctor’s visits, but my routines will mostly remain unchanged.

For me, with very limited understanding of medicine, technology has been a lifesaver three times over. The internet found the right treatment for my brother in 1996. It connected me with top researchers when I was diagnosed with my own rare cancer years later. And now, AI helped me navigate a complex and frightening medical crisis.

Claude was careful to never diagnose me, but it explained the connections I couldn’t see myself, showed me how Waldenstrom’s could be the thread running through symptoms that had stumped my doctors, and then urged me to take action instead of waiting for the medical system to catch up. It pushed me to find the right doctor and gave me the language to get prompt attention. It gave me the information to walk into every appointment knowing what to expect and what to ask.

That preparation mattered in ways I couldn’t have anticipated. When my ophthalmologist was heading down the road toward an invasive biopsy of the lesion on my optic nerve, I had the knowledge and the diagnosis to redirect him. When I finally sat down with Dr. Dittus, I wasn’t a frightened patient hoping to be told what to do. I was a participant in my own care.

I still needed the doctors. I needed Dr. Treon’s decades of research, Dr. Dittus’s expertise, and the team at UNC. But I found them faster, understood them better, and lost less time to dead ends because of what AI made possible. Technology didn’t save my life — the doctors did. But it helped make sure I reached the right ones in time.