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P.E.I. woman hypersensitive to cold temperatures finally gets relief

A 72-year-old P.E.I. woman hypersensitive to cold temperatures has finally found relief after a drug company agreed to pay for her expensive injections.

Drug company now paying for expensive treatment

'Cuddled up real warm': Rachel Doherty from Summerside, P.E.I. spent most of her life trying to keep warm. She's hypersensitive to cold temperatures. (Pat Martel/CBC)

Rachel Doherty's life-long battle to feel warm is finally over. 

The 72-year-old Summerside, P.E.I. woman has a rare condition called Familial Cold Autoinflammatory Syndrome, or FCAS. 

The condition is passed from one generation to another. 

Doherty's symptoms are triggered by cool temperatures — even on a warm summer day if the temperature drops below 24C. 

Last month, Doherty received word from the Swedish company that makes the drug Kineret, that it would provide it to her free. She injects 100mg once a day. (Pat Martel/CBC)

"You start getting itchy and swelling and burning," said Doherty. "Where you're shaking, your teeth are chattering. You're really ill."

Always cold: A P.E.I. woman hypersensitive to cold temperatures finally gets relief 0:55

In 2008, Doherty and eight of the 80 or so relatives across Canada who suffer from the condition found relief after participating in clinical trials at Dalhousie University in Halifax.

For two months, doctors gave them daily injections of a drug that's normally used to treat rheumatoid arthritis. The patients' symptoms disappeared entirely within hours of receiving the shot.

Rachel Doherty says even cutting vegetables in cold water can cause her hands to swell. (Pat Martel/CBC)

But after the trials ended, so did the injections. The treatment, which costs about $18,000 a year, is not covered by P.E.I.'s provincial health plan. 

In July of this year, nine years after the trial, Doherty got some good news.

'I was just in shock'

After suffering from FCAS her whole life, Doherty was contacted by Sobi, the Swedish-maker of the drug Kineret who agreed to pay the entire cost.

"I was shocked," said Doherty. "I was just in shock. Honestly."

A spokesperson for Sobi Canada says the company pays for Kineret for about 250 Canadians who can't afford the drug. 

Rachel Doherty says she's gone through almost two dozen heating pads over the years. (Pat Martel/CBC)

For decades, Doherty and her family didn't even know the name of the disorder.

"There was doctors at home knew that we had this same disorder as my mother, but they had no clue as to what it was really."

'Heavy-duty blankets'

The doctors' advice back then? Take an aspirin and dress warmly. 

"The only thing that we would do is come home, get under the blankets," said Doherty. "I'm talking about heavy-duty blankets."

Hoping to get relief from Canadian winters, Doherty moved to Florida in the mid-80s. 

To escape the cold Canadian winters, Rachel Doherty moved to Florida in the mid 80s. But she soon discovered everyone had the air conditioning 'going full blast', so she moved back home. (Melissa Nelson-Gabriel/Associated Press)

"That was even worse for me in Florida, working in air conditioned buildings and the blowing no matter where, a restaurant, anywhere," she said.

Doherty ended up quitting her job in 1990 and coming back to Canada.

"In Florida you can't stand being outside six months of the year because it's too hot. So it was not the perfect place to be."

Doherty credits a retired dermatologist who worked at Dalhousie's medical school, for his research over more than 20 years, that helped so many people who are hypersensitive to cold.

Dr J. Barrie Ross conducted the clinical trials that showed the drug did work. He also helped identify the mutated gene that causes FCAS. 

'Once we tried it out with a patient or two and found relief, we said we may have got the lodestone here,' says Dr J. Barrie Ross. Rachel Doherty was among the eight family members who participated in his clinical trials at Dalhousie in 2008. (Dalhousie University)

Ross told CBC, this week, that the syndrome afflicts about 700 people in 15 families scattered across Canada, the United States and Europe.

Dr Ross said he's pleased to hear that Doherty is now receiving the drug at no cost. 

"Tell Rachel she was the start of it all and I'm so pleased that she's managed to get relief." 

Rachel Doherty often uses her computer to research FCAS and to stay in touch with others with her condition. (Pat Martel/CBC)

About the Author

Pat Martel

Pat Martel has worked with CBC P.E.I. for three decades, mostly with Island Morning — from a writer-broadcaster to a producer. This year, Pat joined the web team with an eye to create great video. Pat also runs an adult coed soccer league in Stratford. He always welcomes great story ideas that are visually appealing. pat.martel@cbc.ca