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A Misdiagnosed Back Injury Led To An Unexpected Rare Disease Diagnosis

by Shreeya

Seven years ago, I woke up with a mild pain in my lower back. It seemed to come from my right hip, but I didn’t think much of it at the time. I assumed it would pass, brushing it off as something temporary. But the pain didn’t go away.

Two weeks later, while working at my restaurant job, my manager noticed I was limping and favoring my left leg. Until then, I hadn’t realized how much the pain was affecting me. She suggested I see a doctor.

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At 21, I thought the issue would be something easily treatable. The doctor performed a physical exam and recommended I rest for a few days. But when I didn’t improve, I knew something was wrong.

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Within a week, the pain worsened. I couldn’t walk without excruciating pain. I went from being an active person to feeling completely drained. At its worst, my pain was between seven and eight out of ten, and I became bedridden, needing help with even basic tasks.

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I made another appointment with my family doctor, who immediately recognized the severity of my condition. She didn’t think it was just a back injury. Without a diagnosis, she referred me to multiple specialists, including a neurologist, rheumatologist, and neurosurgeon, and ordered an MRI and X-rays.

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Getting an appointment in Toronto’s publicly funded healthcare system took time, but I kept attending physical therapy twice a week. Through these sessions, my therapist and I discovered the most intense pain was in my right sacroiliac (SI) joint, which connects the pelvis and lower spine. We focused on strengthening the area, using a TENS machine to block the pain and applying heat after each session.

Though I started to feel better and could walk with a cane for support, I was still in pain. My mental health also suffered as I struggled with anxiety and depression from not knowing what was happening to me. I isolated myself, only interacting with my parents, fearing I might never return to normal life.

After six months, I finally saw a rheumatologist, Dr. Robert Inman, who ordered more tests. He informed me that I had the HLA-B27 gene, which increases the risk of inflammatory conditions like spondyloarthritis. After further MRI scans and bloodwork, the results revealed inflammation around my spine and pelvis.

In 2018, Dr. Inman diagnosed me with ankylosing spondylitis, a rare and incurable inflammatory disease that causes spinal bones to fuse over time. The condition typically starts in early adulthood and brings symptoms like back pain, stiffness, and fatigue. Though there’s no cure, understanding my diagnosis was a crucial step in managing my condition.

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