When Your Doctor Has Ankylosing Spondylitis, Too

Rheumatologist Hillary Norton, M.D., has spent her career caring for people with ankylosing spondylitis—including herself.

by Stephanie Stephens Health Writer

She's one of only a few rheumatologists in the United States who also has ankylosing spondylitis or AS. Hillary Norton, M.D., of Santa Fe, NM, has made it her mission to demystify her condition—a type of arthritis that primarily affects the spine. When it comes to empathy for her AS patients, Dr. Norton, a medical director at Santa Fe Rheumatology, has plenty, along with the most current knowledge about what it takes to manage this condition successfully. We asked Dr. Norton, who's lived with AS for more than a decade, about the ins and outs of working with a patient base that has many of the same symptoms and needs as she does, and what she’s learned along the way.

What were things like for you before being diagnosed with AS?

I was in my late 20s and not yet in medical school. I was working on a master's degree, doing pre-med courses in preparation for school. I also knew something wasn't right, but in the beginning phases, the pain would come and go, and didn't happen on a consistent enough basis to cause me to really do anything about it. In the daytime, once I was moving around and becoming active, the pain would go away.

I'd awaken at night with back pain that was pretty severe, and I knew the only way to relieve it would be to move—but then I had difficulty moving. This went on for a few years. At first, it was intermittent, but as the disease progressed, I was in pain every night. Finally, it limited my ability to stay in bed. At first, I could sleep until 4 or 5 a.m., but then that became 3 a.m., and then 2 a.m., and eventually, I could sleep for only about two hours and then I had to be in an upright position.

Sometimes it could take me 15 minutes to be able to turn over, and once I did, I knew I could get another hour or two of sleep.

Like other undiagnosed AS patients, I'd go on the internet to search my symptoms, and I'd see information about chronic illness and disease. I'd skip that whole section because I thought, "I don't have a chronic disease," and as it turned out, I was missing the correct diagnosis from the beginning. I thought, "I'm a young, healthy, active person who just has a back issue."

I saw a sports-medicine doctor who thought it must be something related to athletic activity, which at that time was trail running, riding a mountain bike, and swimming. Like others, I was misdiagnosed with a mechanical back issue, usually caused by excessive or repetitive strain on the back—and was sent to physical therapy. That all began a complicated journey and delay that ultimately meant I wasn't diagnosed until 10 years after my symptoms first started.

Rounds of physical therapy (PT) didn't help. I did weeks of it, several appointments, as often as I could—it was difficult while in medical school. Later, I was sent to PT again for what was diagnosed as a weight-lifting injury in my shoulder—I know now it was actually AS—and I did several more sessions then.

I tried to go on with life. I certainly wasn't looking for a diagnosis of anything chronic, and honestly, if there was a chance to ignore my symptoms, I did that.

At what point did you realize that this was not run-of-the-mill back pain?

On the first day of my internship at the University of New Mexico, July 1, 2007, and on a 30-hour shift with a lot of stress involved, I developed inflammation in my left eye. When I had to go outside, the light shining on my eye caused terrible pain. My supervising resident thought I might have uveitis—when the anterior or front of the eye gets inflamed—and called an ophthalmologist in on an emergency basis. That doctor examined me and asked me if I ever had any back pain. I said I'd had horrible pain for about 10 years and I still wasn't sure what the connection was. He said, "You need to see a rheumatologist."

And when you did, what happened next?

When I saw that rheumatologist, she asked about other tests, my family history, a physical exam was done, and x-rays were ordered. My blood work showed that I had the HLA-B27 gene, a risk factor for ankylosing spondylitis.

How did your rheumatologist explain the HLA-B27 gene?

Some people have the gene and no disease associated with it. When it functions well, the gene instructs a protein to be made on white blood cell surfaces that helps to differentiate between the body's own cells and foreign invaders—like an infection. It's not known how HLA-B27 confers risk of AS, and there are multiple theories.

You can have the gene and have no AS, but more than 90% of patients with AS have the gene. Used in the context of someone who has inflammatory back pain, it can be very helpful in diagnosis. People can also be diagnosed with AS and not have HLA-B27. Again, it's important that we interpret the test with other clinical information that we gather, to come to a correct diagnosis. And remember, this is not a simple diagnosis; there is no one single test for AS. That's why it's so complicated and why so many patients are missed.

What did you think when you finally received your official AS diagnosis?

On one hand, I thought it was good to have answers about my symptoms after wondering what was wrong for so many years. But quickly I moved on to: "I don’t want to embrace being a patient with a chronic illness," and that's where my next struggle began. Not wanting to embrace the diagnosis led to a delay in treatment for me—another five years.

I was doing my residency in internal medicine, and then my fellowship in rheumatology. I was living with a lot of pain and sleep deprivation, but I was trying to treat my disease with exercise and yoga.

How did you approach treatment and particularly the issue of taking a biologic?

In hindsight, if I had known what my life was going to be like after starting a biologic, I would have started sooner. Biologics are genetically engineered proteins that target specific inflammatory molecules in the immune system. Doing that would have allowed me to get back to normal life sooner. I took a TNF inhibitor, which was the only class of biologics approved to treat AS at that time.

I do understand that, for a young person, when we talk about starting a significant treatment, there can be a lot of reasons to hesitate. I wish someone had told me everything is just a trial, and that this is not a permanent commitment. If it's a great fit for you, you'll want to continue. It's about getting past the hurdle of having a chronic illness and going on a medication medium- to long-term. That was a hard thing for me.

How did you feel once you started the medication?

I was fortunate in that I had a dramatic response to medication. It was like turning back the clock. I slept until the sun was out, and I got out of bed on my own for the first time in years. It sounds a little weird, but it felt as if a ghost finally left my body. I'm so grateful that I had this response. Medication has allowed me to be myself again.

Why does it take so long for people to get diagnosed in general?

The average time for diagnosis is 7 to 10 years. This is an invisible disease and the primary symptom is back pain. Most people have back pain at some point in their lives, the disease comes on at a young age—usually the mid 20s—and initially many patients don't seek treatment for that. I was one of those. People may think it's something they did during their workout, and if they do seek treatment, it's often from a chiropractor, or like me, from a sports medicine physician, or it can be from a number of different providers. The last thing they're thinking is that this could be a chronic disease.

Also, AS is under-recognized by many providers, further delaying a referral to the rheumatologist. To help others avoid the long road to diagnosis that I experienced, I really try to raise awareness about unexplained back pain that could be AS.

Did you share your diagnosis with your boss or colleagues and how did they react?

In the medical-training environment, most of the time you really don't want to show vulnerability to peers. Having a medical issue while in residency is not something you want to be forthcoming about. I tended to keep to myself, to cope with it, not talking. People would say, "I heard you injured your knee or ankle," and I would smile and nod and keep going. I didn’t want to tell anyone about being diagnosed with something chronic.

When you did discuss it, what kinds of responses did you get?

As surprising as this sounds, even physicians in other specialty areas would say, "Well, you can't have AS because it's a disease of men." That's another example of how AS is just not well understood, how much misinformation was—and still is—out there. Earlier studies showed more disease in men, but more recent studies show the ratio of men to women has declined.

There was one time during training when I confided in someone and the response was just not supportive. That person said something like, "Your SI (sacroiliac joint, where the lower spine and pelvis join) is going to fuse and you can live with that, so don't make a big deal about this."

They were talking about my AS diagnosis!

That response lit a fire under me to go into treating AS as a specialty in my practice, and to raise awareness so other people didn't hear that same response

How does having AS impact your approach to patient care now?

I think I have a unique perspective and ability to really understand what patients are going through. During my own journey, I've discovered how misunderstood this disease really is. That's something you can't learn completely from a textbook.

I think we all have different comfort levels about what symptoms we're willing to live with before we accept treatment. I do know now that without treatment, there was a 100% chance my disease was going to significantly impact my life. To the extent my career was in jeopardy, it took me getting to a pretty bad place in terms of symptoms before I was willing to accept that.

I was having difficulty walking. I couldn't go up and down stairs and had to take an elevator. I saw a wheelchair in my future.

I was very fortunate that I responded so well to treatment. I've sat on both sides of the issue of how disease can impact you and what treatment can do for you.

What do you always tell patients that are just diagnosed with AS?

There are three things I tell them:

  • Know you are not alone. An invisible disease can be very isolating and even people close to us may not understand what we're going through—we can look perfectly healthy during the day.

  • Be kind to yourself. I do this, too: When we have flare-ups, we ask ourselves, "What did I do to cause this?" There are things we can do positively with our lifestyle choices, like managing sleep, our routine, exercising, eating a healthy diet, and of course, not smoking. But, this is a disease we can’t control all the time.

  • Be hopeful and positive. There are some really good treatment options and only more to come.

Of all the new AS treatments in the works, which ones are you most excited about?

There are a number of things, actually. We do clinical trials in my office, and I would say there are exciting treatments in the pipeline, both with biologics and small molecules, that are coming and are very helpful. Small molecules are a newer class of medications being used in rheumatic diseases. They are oral medications, and having a low molecular weight, they can enter the cell where they can affect gene transcription and thus decrease the inflammatory response. Stay tuned!

Gender Differences with AS: Clinics (Sao Paolo). (2011). "Gender Differences in Ankylosing Spondylitis-Associated Cumulative Healthcare Utilization: A Population-Based Cohort Study." ncbi.nlm.nih.gov/pmc/articles/PMC3059876/

Stephanie Stephens
Meet Our Writer
Stephanie Stephens

Stephanie Stephens is a very experienced digital journalist, audio/video producer and host who covers health, healthcare and health policy, along with celebrities and their health, for a variety of publications, websites, networks, content agencies and other distinctive clients. Stephanie was accepted to THREAD AT YALE for summer 2018 to author and produce an investigative series. She is also active in the animal welfare community.