In Brazil, according to patient associations, a person with a rare disease takes five to seven years to be correctly diagnosed. The journey can include consultations with seven different healthcare professionals until the individual finally learns what is causing their symptoms and begins targeted, effective treatment.
That’s what happened to 41-year-old banker Érica Soreio, who started experiencing strange symptoms in 2017, was hospitalized 30 times between 2018 and 2019, and only managed to be diagnosed in 2021. The first sign that something was wrong it was a sudden fainting spell that left her unconscious for many minutes.
She looked for a doctor, did a battery of tests, but the cause of the problem was not defined. When she didn’t pass out once more, she let it go. However, a few months later, the resident of Guarulhos, in São Paulo, began to feel bad at work. Érica went to the hospital once more, but the health professional who attended her said that she shouldn’t worry.
On the same day, the bank clerk returned to the health center with severe chest pains and spent a week in hospital with suspected pericarditis. The woman received care during the period, and returned to normal life. Months later, “all hell broke loose”.
“I decided to go out with my husband for dinner and, at the restaurant, I started to feel sick. I felt a lot of weakness and a crazy itch in my legs, from the knee to the ankle, which I believed was because of the waxing, ”he recalls.
The search for a diagnosis
In one week, the bank employee went to the emergency room seven times and was even anesthetized to alleviate the intense and persistent itching. From then on, every week she had a crisis and started jumping from doctor to doctor, until she found herself practically living in the hospital.
One day, following the electric shower in her house stopped working, she accidentally discovered that cold showers soothed her itches. Érica started to dip her legs in buckets of ice water when the drugs didn’t work.
She says that she consulted with neurologists and psychiatrists, as she believed she had a psychological problem. For three and a half years, she learned to live with the bone pain and the itch, because no one knew what she had. Between 2018 and 2019, the banker was hospitalized 30 times.
depression and obesity
Érica was away from work for three years and no longer left the house for fear of having itching attacks. She developed depression, started having panic attacks and, with all the medication, gained 40 kilos in a matter of months. The extra weight made her bone pain intensify: she even used a cane and a wheelchair.
“I was accompanied by a multidisciplinary team, and one of the professionals referred me to the doctor Leonardo. When I went to visit him, he already had all my exams in hand and admitted me right away, ”she recalls.
On August 16, 2021, following many trips to the hospital, Érica finally discovered that the reason for her intense itching and muscle weakness was a rare condition called Schnitzler syndrome.
The image shows Érica in 2017, when it all started Personal archive
She suffered from intense itching on her legs, between her knees and ankles. Personal archive
Soaking the legs in cold water was what soothed the itching. Personal archive
In addition to itching, Érica suffered from bone pain to the point that she was unable to walk and had to be carried in a wheelchair.Personal archive
For a while, she needed the aid of a cane to walk.Personal archive
Due to the medications, the banker gained 40 kg in a few monthsPersonal archive
She was diagnosed with Schnitzler Syndrome in August 2021. Today, Érica says she feels infinitely better Personal archive
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Schnitzler Syndrome
Immunologist and allergist Leonardo Oliveira, coordinator of the rare diseases center at Hospital 9 de Julho, in São Paulo, explains that Schnitzler syndrome is a rare autoinflammatory disease of genetic origin.
Symptoms are recurrent fever, hive-like skin lesions, bone pain, and enlarged lymph nodes. According to Oliveira, what causes the syndrome is a multifactorial genetic defect that makes the inflammasome, a piece of cells that has a great capacity for inflammation, become disoriented and start secreting an exaggerated amount of interleukin in the organism, a kind of inflammatory cytokine.
When the patient takes a long time to be diagnosed and goes without treatment, he can suffer serious consequences, including kidney failure. Schnitzler syndrome has no cure. Treatment is for life with the administration of a drug capable of inhibiting interleukin.
“After she started taking the medicine, Érica’s exams improved in an absurd way, she never had anemia once more and the inflammations in her body resolved. In addition, she greatly reduced the amount of corticoid and gained quality of life. Today, she is a different person, much happier”, says Oliveira.
life change
“It was following the diagnosis that I started to have quality of life”, says Érica. Today, she goes to the hospital once a month to take her medication and the frequency of her seizures has dropped considerably.
With the disease under control, the banker manages to pay attention to her children and husband, who for many years lived turbulent years by her side. She says that she almost got divorced and that her youngest son had panic attacks when someone was late picking him up from school, believing that something bad had happened to his mother.
In June 2022, the banker returned to work and, in September, underwent bariatric surgery to control the weight accumulated during the peak of the disease. “I’m feeling infinitely better,” she finishes her off.
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