Chronic ankle pain

After Matacic first rolled her ankle, she took it easy for two weeks, but, after her rest, the pain persisted. After six more weeks of rest, Matacic, an avid runner, started running again. But within five minutes of leaving her house, she noticed her ankle felt like it was flooded by warm liquid and noticed it had swollen to twice the size of her other ankle.

Matacic decided to do physical therapy. Eight months later, her ankle was still weak, and she had developed stiffness in her calf. Matacic attempted running, but her ankle kept swelling and aching.

By February 2016, Matacic changed physical therapists, but after three more months of therapy, there was still no improvement.

In July, Matacic visited a family medicine physician, who performed an X-ray and MRI, which failed to find anything definitive. The doctor said she was unsure what was wrong and told Matacic it was possible she had an unspecific neurological disorder or an orthopedic problem.

The doctor offered Matacic two options: she could either try gabapentin, a widely prescribed medication for treating nerve pain, or she could be referred to an orthopedic surgeon. Matacic chose to see a surgeon.

In September 2016, Matacic visited an orthopedist who she said saw her for roughly five minutes, said he saw nothing on a new X-ray and MRI, and recommended she do more physical therapy.

Matacic's next physical therapist thought the hamstring Matacic pulled in 2014 could be affecting her gait, which was causing her calf to atrophy and her ankle to get weaker. For the next six months, Matacic exercised to improve her strength and balance, and by April 2017, she was able to run a 5K race without pain.

Over the next year, Matacic performed her physical therapy exercises at home. Whenever the pain in her ankle would flare up, "I just sort of ran through it," she said. In April 2018, Matacic ran a 10-mile race and attempted to ignore the tenderness, swelling, and warmth that came after and then disappeared.

However, by March 2019, Matacic's pain had intensified, and she worried that something had been overlooked. She went back to her orthopedist who ordered more X-rays and scans and told Matacic she had Achillies tendonitis, which is pain and swelling typically caused by overuse. The orthopedist said surgery was an option but recommended more physical therapy first.

The pain gets worse

In March 2020, Matacic was running up a hill near her home when she felt warm fluid in her ankle. She walked home and attempted to finish her workout by getting on a stationary bike for 15 minutes.

"I was in agony when I got off," Matacic said, adding that she could barely walk.

It took three weeks for her pain and swelling to get better, and Matacic's orthopedist ordered a new MRI, concluding that loose ligaments in Matacic's ankle seemed to be the cause of her problems. He recommended Matacic have surgery to tighten the ligaments. Instead, Matacic elected to spend much of the next year in physical therapy, which provided little to no relief.

By July 2021, Matacic felt a constant dull pain in her hip and intermittent swelling in her ankle which had altered her gait and impaired her balance. Concerned she had a neurological problem, Matacic saw a neurologist who ruled out the possibility.

In December 2022, Matacic saw another orthopedist who said Matacic had Raynaud's phenomenon, a common condition caused by the constriction of blood vessels which causes fingers and toes to become numb and white.

Typically, Raynaud's is triggered by cold or stress. Primary Raynaud's doesn't have a known cause and is usually mild, requiring no treatment. However, Secondary Raynaud's tends to be more serious and typically accompanies an autoimmune disease like rheumatoid arthritis or lupus.

Before she considered surgery, the orthopedist told Matacic she needed to see a rheumatologist.

Finally, a diagnosis

In January 2023, Matacic visited rheumatologist Adey Berhanu, who was the first doctor to listen to "every twist and turn in my miserable story," according to Matacic.

Based on Matacic's age, previous activity level, and the presence of enthesitis on her MRI, Berhanu told Matacic she likely had psoriatic arthritis (PsA), which is a chronic autoimmune disease.

PsA is a combination of psoriasis and arthritis and affects an estimated 1.5 million Americans, the majority of whom develop it between the ages of 30 and 50, Boodman writes. Symptoms of PsA include joint pain with redness, warmth, fluid accumulation, and swelling in the affected area.

Typically, irritated patches of skin, indicative of psoriasis, show up first, followed by joint pain. However, in a small percentage of patients, including Matacic, psoriasis isn't present first, making the disease more difficult to diagnose, Berhanu said.

The cause of PsA isn't fully clear but is likely a mix of environment and genetics, Boodman writes. A mutation in the genes that are part of the HLA complex seems to affect a person's risk of developing the disease, however that genetic marker is an indicator and not necessarily proof of PsA.

Early diagnosis of PsA is important because treatment with specialized medications can prevent permanent joint damage, Boodman writes.

"I've never seen anyone so committed to doing the right thing," Berhanu said of Matacic's years of physical therapy, which Berhanu said was a clue. "Sprains heal. An active person who can't walk or drive raises your suspicion."

Over the past year, medication has significantly improved Matacic's ability to walk without pain. "I would kill if I could run again," Matacic said, though she added she believes that's likely out of the question because of the stress running places on joints. Instead, Matacic has started swimming.

Matacic said she wishes she'd taken her pain more seriously and consulted doctors sooner. She said she feels lucky she hasn't had any joint damage despite the long delay in diagnosis.

"I approached a lot of this as a test," Matacic said. "I was raised to believe that if you don't push yourself you'll just turn into a couch potato. But I think the biggest thing is to respect injuries." (Boodman, Washington Post, 3/16)

While most people don't anticipate becoming a "medical mystery," the path to an accurate diagnosis can be "surprisingly complex, strewn with cognitive land mines, logistical roadblocks and red herrings." Writing for the Washington Post, Sandra Boodman offers five tips for patients on how to avoid becoming a medical mystery.