New York Timed reported a story of 68-year old woman from Alabama, who was very sick. Even though she experienced some common symptoms, doctors could not diagnose what she was suffering from.

Let’s starts from the beginning. A young girl received a call from her aunt, telling her that her mother has fallen again and was very weak to get up. Her mother has been sick for years. They had been to the local hospital many times and had visited a specialist in the town. However, no one knew what was happening and why she was sick.

They decided to go to the University School in Birmingham, where the young women went when she was pregnant with triplets. The doctors gave her fluids to heighten her blood pressure and she perked up a bit. More important, they advised her to go to the ambulance.

The internist Jori May received them and decided to take her case. Even though they gave her a lot of medical records, she was not able to reach a diagnosis. She first wanted to understand what had happened.

The woman told her that everything began years ago. Every night, she had fever. She first experienced shaking chills and bone-rattling. After that, she would start to sweat and the temperature would go up to 39.4 C. She experienced pain in every part of her body. She took Tylenol to lower the temperature. A few hours after the initial symptoms, she would start to vomit, until there had not been anything left in her.

That happened almost every night. During the day, she felt weak and tired, and had pain in the bones. She experienced pain even when she was walking. The doctors told her that she was suffering from fibromyalgia, a complex chronic disorder.

She also had a skin rash. They told her that it was hives. Even though it did not itch, no one could find out why she had it. She also lost her appetite and whenever she thought about food, it made her want to vomit. She lost 36 kg last year.

Doctor May said that she would study through the documentation and make a plan. She confirmed that the patient had an increased level of white blood cells.

The normal count is about 10, whereas the patient’s was constantly over 20. CT scans indicated enlarged lymph nodes in her body. A chronic infection or cancer could be the cause of it. However, doctors discarded both possibilities.

Doctor May decided to subject the woman to multiple examinations, which her doctors had missed. Therefore, the woman had to be checked for HIV, syphilis and a type of blood cancer, known as multiple myeloma.

The results were negative. The multiple myeloma examination showed an abnormal level of antibodies and an increased level of immunoglobulin, but doctors discarded the possibility that had a cancer. After a 7-month examination, May was at the beginning.

However, one day, the situation changed. Doctor May found a note in the medical records from a specialist, who was not involved in the case. On the 11-page note, except the symptoms and the results of the examinations, there was diagnose that the patient suffers from Schnitzler syndrome, a disease that Dr. May has never heard of.

It is a rare and poorly understood autoimmune disorder, which is similar to arthritis, fever and bone ache.
In patients who suffer from this disorder, microphages, a type of white blood cells, go wild and instruct the body to act as though it is infected. They experience fever, cold, loss of appetite, pain in the body. It is still unknown why and how that happens.

The French dermatologist, Liliane Schnitzler first described this disorder in 1972. Dr. Forest Huls, who recognized the syndrome even though he was a specialist, became a prominent doctor. A kind of Dr. House.

He stated that when he saw the people suffer, he knew that he could find a solution if he took the time and effort.
The pathological finding, i.e. the increased level of immunoglobulin, was tracked.

Huls has never heard about the Schnitzler syndrome, but he recognized it by using the database of patients who had the same symptoms as the woman. When he entered all information, new articles related to this disorder started to appear.

It was a turnover for the 68-year old patient and an important diagnose to make, because there is an effective therapy for this disorder.

When the insurance’s company denied paying for the new and expensive medication, doctor May talked with the manufactured that agreed to provide it.

When the woman started taking the medicine, fever, shaking chills, vomiting and nausea disappeared. She can barely recognize herself.

New York Times stated that Dr. Huls is finishing up his fellowship this summer. He had to decide where he will end up yet.