FMF in New York.

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The scream tore through the dark apartment. She moved quickly and quietly to the 9-year-old girl lying still under the flowery quilt. I know. Experience had taught her that any movement made a terrible pain even worse. In a few minutes, she would get the child some Tylenol and a hot towel to hold against her rioting stomach. Her daughter could always tell when an attack was brewing. After supper that evening, she sought out her mother. She put her daughter to bed, and she and her husband waited.

Maybe this time it would be different. These mysterious episodes of fever and stomach pain had started two years earlier. That first attack the mother attributed to excitement or anxiety or maybe something she had picked up at school. Her daughter had been well enough to eat some birthday cake, and she thought nothing of it until the same thing happened three weeks later.

For the next year, every three or four weeks her little girl would get a fever and these strange and terrible stomachaches. She would barely drink. The pain was usually on the right side. The child variously described it as sharp or crampy or achy.

Sometimes she felt nauseated. She would lie curled on her side, her breath the only visible movement. In a day or two, she would be back to normal — until the next attack.

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Her pediatrician was baffled and sent the child to a gastroenterologist. He looked into her stomach and intestines with an endoscope in search of the cause of the painful episodes. Was it celiac disease? The studies said no. The only abnormal test result was an elevated sedimentation rate. This test measures inflammation based on how quickly red cells sink to the bottom of a test tube. Levy tested the patient for lupus, the most common chronic inflammatory disease among girls this age.

The test was normal. Levy called the girl his little mystery and continued to search for an answer. Her mother conducted her own investigation. At one point, she outlined the symptoms to her own internist, and that finally provided some hope. The mother quickly called Levy. The specialist knew the disease well, he told her.

The disease is often mistaken for appendicitis, and many children end up in an operating room before their doctors figure out the diagnosis. The mother could feel tears prickling her eyes. There had to be an answer somewhere.

That winter, the patient continued to have attacks of abdominal pain every few weeks. Then she developed pain in her right ankle. A second test for lupus was now abnormal. Based on this, Levy referred the girl to yet one more doctor: this time, a pediatric rheumatologist, Dr.

Lisa Imundo. In her office, parents and daughter retold their story once more as Imundo took notes. She asked about any other t pains. Sure, there had been other aches and pains — mostly in the knees — but for the past few weeks the pain had moved to the ankle. Levy because her daughter played sports, and she had assumed the pains were due to little injuries. Any tick exposures?

Imundo continued. Yes, they had a house in an area known to have deer ticks. On exam, Imundo noted that the patient was a little overweight and more than a little anxious. Her abdomen was soft, her bowel sounds normal and she had no stomach tenderness. Finally, Imundo laid out her plan. Since the second test suggested she might have lupus, she would send off blood to see if there was any other evidence that she had this puzzling autoimmune disease. Lyme disease was also possible, though less likely. And patients with this disease were completely normal between episodes of fever and pain.

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But the abnormal blood work, taken when this child was healthy, would be unusual. However, a test had recently been developed for this unusual genetic disorder, she told them, and they could check. A week after the blood was drawn, Levy called the mother.

Carriers, with only one copy, have no symptoms but can pass it on to their children. With two copies, the body cannot make a protein essential to modulating the immune system. Without it, the army of white cells that normally protect the body can overreact, resulting in inflammation, pain and fever. The abdomen and ts are the most common sites of these attacks, but the lungs and heart can also be affected.

Colchicine, a drug that inhibits some forms of inflammation, can prevent most attacks. They started their daughter on colchicine the next day, and the attacks stopped as abruptly as they had started. The nightmare was finally over.

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That was seven years ago. As long as her daughter takes her medicine, the mother told me recently, the fever and pain are kept at bay. Until recently, he explained, F. In medicine, we can only really know a disease once we have a test that can reliably identify it.

Now we can find all the rest. Magazine An Elusive Agony. Symptoms The scream tore through the dark apartment. It hurts so bad.

FMF in New York.

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