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When you hear hoofbeats, think zebras! Diagnostic delay in Sjögren disease: a patient–advocate’s story

Written by Geoff Case, RARE Revolution Magazine
Coralie Bouillot

Coralie Bouillot, co-founder and general secretary of Sjögren Europe, lives with Sjögren disease. Here she describes how her ten-year wait for a diagnosis pushed her to question her own judgement.

Coralie Bouillot, co-founder and general secretary of Sjögren Europe, lives with Sjögren’s disease.

At 30 years old Coralie was balancing a full-time job with looking after her three children. Out of the blue she started experiencing “strange symptoms”: fatigue, muscle pain, especially in her legs, dizziness and loss of balance. “When I was walking, it seemed as if my feet weren’t touching the floor, as if I was walking on cotton,” she says. Her doctor reassured her, attributing her symptoms to tiredness and stress.

Coralie carried on with her daily life as best she could, and the symptoms went as quickly as they had come. When they returned a few months later, her doctor ordered blood tests and investigations of her thyroid gland, but all the results were normal. At each subsequent consultation she was advised to slow down and be careful to avoid stress.

Over the years, however, her symptoms got worse. When she turned 40, the crises that came and went became permanent illness. “That craziness I was describing wouldn’t leave. I realised that I was living with those symptoms every single day. My battery was never full.”

Early one summer evening Coralie was sitting with her children while they were doing their homework, and she fell asleep, absolutely exhausted. Baffled by her constant tiredness, she went to her doctor again. He gave her a sick note for a week, so Coralie rested up and felt a little better, but she had the feeling that “something was broken inside”.

She explains that nothing was bringing her joy: “I didn’t enjoy my work. I was fed up with my kids. I couldn’t bear my life any more.” Again, she went to her doctor, but he could not find any physical cause of her symptoms. Knowing Coralie had a holiday booked, he advised her to enjoy her time off. He also suggested she see a psychologist.

Coralie Bouillot, co-founder and general secretary of Sjögren Europe, lives with Sjögren’s disease.

During the holiday, Coralie spent some time with a friend who happens to be a doctor. She hadn’t said a word to this friend about her health problems because of the shame she felt. “I was ashamed because I was complaining about symptoms that didn’t exist. I had started to feel I was crazy and that I was imagining all of them.”

Coralie had bottled her unhappiness—and an increasing sense of fear about what was happening—deep inside, concealed from the world and, she thought, from her friend. But on the last day of the holiday, her friend took her by the hand and asked if she was truly okay. And the truth—as Coralie believed it to be—spilled out. “I’m not okay, but there’s nothing physically wrong with me… I think I must be depressed.”

Fortunately, Coralie’s friend had seen clear signs of illness and urged her to return to her doctor. “I can tell you that these things are not in your head,” she said. “I saw you walking on the sand and you have a balance problem—I’m afraid you have a neurological problem.”

Coralie’s doctor still found no evidence of an underlying physical cause, so he referred her to a psychologist. However, the psychologist found no sign of a mental disorder and referred her back to the doctor.

One morning in November, Coralie woke up to find the right side of her body and the left side of her face paralysed. She called the doctor, insisting that he saw her—she refused to call for an ambulance—so he could see the problem first-hand. “I want you to look at me in the eye and tell me this is stress,” she told him.

The doctor’s first concern was that Coralie has suffered a stroke. After ruling that out, he agreed with Coralie that an undiagnosed physical cause of her ongoing symptoms was likely.

Coralie Bouillot, co-founder and general secretary of Sjögren Europe, lives with Sjögren’s disease.

For Coralie, there was no question of waiting to see what would happen next with her health—she was determined to get answers. “I couldn’t bear one more year, one month, one more day,” she says. “I wanted to know what was going on with me.”

She consulted a doctor who specialised in internal medicine (acute, chronic and complex conditions). In the hour-long consultation, she had many tests and answered lots of questions. Importantly, the doctor asked her about whether she experienced dry eyes. “Yes,” she said. “Now you’re asking me, I can see that I have. I’ve always lived with a feeling that I had sand in my eyes.”

At the end of the consultation, the doctor told her he had three hypotheses to explain her symptoms, and further testing would be needed. He emphasised how some of her test results were not normal “at all”, and it was certain she had something . This vital step towards a diagnosis was an enormous relief for Coralie. Eager for answers, she “ran” to the laboratory for the blood autoantibody tests the doctor had ordered.

Her anxious wait for results ended about a week later—and 10 years after her symptoms started. The results showed the presence of specific autoantibodies for Sjögren disease, which had been one of the doctor’s three hypotheses.

Coralie’s relief, joy even, was enormous, but this was quickly followed by guilt. She felt as if she shouldn’t be celebrating something that, objectively, could be considered bad news. But since then, she has seen many others react to a delayed diagnosis in the same way. “It’s the relief from finally being believed,” she says. “You spend 10 years hearing that you don’t have anything wrong. Even from your relatives. You end up not saying anything because you’re complaining when you’ve got ‘nothing’ wrong.”

“You want to keep your dignity and integrity in front of your relatives, so you just don’t say anything, even when you’re dying inside.”

After 10 years, Coralie’s diagnostic journey was over, and 10 years after that, once she had retired—prematurely, because of her disease—she decided to volunteer within the Sjogren’s community. She hoped that her story could raise more awareness of Sjogren’s, so that the diagnostic journey for other people would be shorter. If she could save even one young woman from a similar ordeal, that would make her time worthwhile, she thought. “We need to teach doctors that when a woman complains again and again, you have to investigate and try to find something.”

Today, Coralie is still hearing of—and encountering—the same knowledge gaps that delayed her own diagnosis for so many years. Recently, she met with a doctor to discuss a comprehensive plan to manage her pain, but the doctor was focused more on how to treat any dryness. Clearly, much still needs to be done, Coralie says, to raise awareness that Sjogren’s is a systemic disease.

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This digital spotlight has been made possible with financial support from Horizon Therapeutics, who recommended the potential contributors. With the exception of a factual accuracy check, Horizon Therapeutics had no editorial control over the content of this article. All opinions are those of the contributor.

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