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Grand Forks woman diagnosed with being allergic to the cold

Growing up on the south coast of England, Jane Sykes Wilson learned to live with a mysterious illness that seemed to arrive when temperatures drop, as if she were allergic to cold.

"The colder it is, the worse it feels," she said. "I was told all sorts of things by doctors. They said, 'No way is it related to the cold.'"

Any drop in temperature, even in warm weather, could bring on or worsen the flu-like symptoms, which included swollen joints, rashes, eye redness and occasional fever with chills.

That didn't deter her from venturing to Grand Forks in summer 2002 to pursue a master's degree in communications at UND. But it was here that her symptoms became unbearable.

"My symptoms weren't that bad until I moved here," she said. At one point, she said, she was forced to use crutches because of painful joints.

Accurate diagnosis also eluded local doctors as it did doctors in England.

She had trouble convincing them to take all her symptoms into account, to see them as a whole, she said. "For instance, I'd show them my eyes and they'd say, 'You have to see someone else for that.'"

Wilson was not alone in coping with this medical condition -- it afflicted her mother, aunt and sister back in England. And that was where the mystery unraveled.

Family connection

It was serendipity that led the family to the right specialist and ultimately the right diagnosis, Wilson said. "My sister's doctor plays tennis with a specialist who'd been studying the disease and that doctor asked my sister to spend a month taking part in a clinical trial."

Instead, her sister Victoria moved to southern Africa where the warm climate alleviated her symptoms, and lived there for three years. When she returned to England her symptoms came back with a vengeance.

But by then, researchers at University College London Medical School, affiliated with Royal Free Hospital, had come to understand the disease much better. In December 2007, under the care of a doctor at the hospital, Wilson finally got the answer that eluded her and her family for so many years.

She has familial cold auto-inflammatory syndrome, or FCAS, a very rare, inherited disorder triggered by exposure to cooling temperatures -- even a cool breeze or air-conditioning, according to a website dedicated to the condition. It can cause many patients to become incapacitated.

Onset occurs in infancy or early childhood and persists through the patient's life, the website said. Since FCAS is a newly discovered condition, the actual incidence and prevalence of the disease is difficult to determine.

It's attributed to a mutation that causes increased activity of cryopyrin, a protein that regulates inflammation in the body. Medication stops the body from reacting to this protein.

Group of diseases

FCAS is part of a wider, extremely rare group of genetic diseases called CAPS, cryopyrin associated periodic syndrome, and is caused by an abnormality in a gene involved in the control of white blood cells, said Philip Hawkins, professor at the National Amyloidosis Centre at the University College London Medical School, via email.

"For reasons that remain unknown, exposure to a cold environment severely exacerbates the disorder," he said. It affects about one in a million, he said.

Doctors have been aware of CAPS for a long time, said Eric Matteson, chief of rheumatology at Mayo Clinic in Rochester, Minn., but only recently understood the specific genes involved.

It was a breakthrough, "without question," he said, when researchers finally understood the mechanism of FCAS about five or six years ago. They then developed drugs that blocked the activity in the inflammatory proteins produced by the genes, he said.

"Treatment will be life long," said Hawkins, "but it is anticipated that it will enable patients with CAPS to lead healthy long lives."

Matteson said though the number of people with the syndrome is not large, the variations in the disease is broader than researchers once thought. "I suspect we'll see more people who are affected as we learn more and better understand the diseases and how these abnormalities cause symptoms."

For patients who suspect they have the disease, he recommended talking to their family doctors about the possibility and consulting a specialist.

There are many institutions in North America and Europe that can treat the disease, he said, but not many doctors have heard of it. Those who practice immunology, rheumatology and allergy medicine are most likely to be aware of the disease, he said.

Vindication, finally

Wilson remembers clearly the day she and her family received the diagnosis.

"It was a vindicating feeling, after you've been told for years that it's not related to the cold," she said."To have someone understand you and say, 'We believe you,' that's an amazing feeling. I don't know what we would do without her," she said of Dr. Helen Lachmann, the doctor in England who diagnosed her.

Now, with daily injections, Wilson's symptoms are under control.

"I've gone from having symptoms on a daily basis to not having symptoms anymore," she said.

When she and her husband, Matthew Wilson from Grand Forks, contemplated having children, doctors were unsure how the medication would affect the fetus due to lack of cases on which to base a prediction.

"They said there was a 50-50 chance of passing this on," she said. She reduced the amount of medication she took during critical phases of pregnancy.

Since George's birth a year ago, his parents suspect, but have not confirmed, that he has it.Wilson said she hopes others will learn from her story and not feel limited by the disease. She and her relatives are examples used by Royal Free Hospital to explain FCAS and demonstrate what patients can do, such as living in cold climes and having a healthy child.

She also emphasized the importance of advocating for your health care. "You know your body better than someone who's seeing 15 patients a day."

Reach Knudson at (701) 780-1107; (800) 477-6572, ext. 107; or send email to