Health news
Doctors discover treatment for disorder that feels like freezing on inside
Provided by: The Canadian Press
Written by: Alison Auld, THE CANADIAN PRESS
Mar. 9, 2008
HALIFAX - For more than three decades, Rachel Doherty and her siblings have endured the ravages of a rare illness that chills their insides while covering their skin in a painful rash.
Through her youth, the 62-year-old retiree from Prince Edward Island didn't even have a name for the condition that passed from one generation to the next, leaving most of her relatives feeling like they were "freezing from the inside out."
Now, years after her sister began a crusade to get help, doctors have discovered a treatment that frees them of the burning welts, swollen limbs, weakened immune systems, stomach aches and fever brought on by even the slightest drop in temperature.
"If you're always chilly, day in and day out for years and years, and all of a sudden you just get up and take a needle and you walk out and all the chills are gone ... it's amazing," Doherty said from her home in O'Leary, P.E.I., after receiving injections to quell the symptoms of Familial Cold Autoinflammatory Syndrome, or FCAS.
"It was like stepping into another body."
Doherty and eight of the 80 or so relatives across Canada who suffer from the little-known condition found relief after participating in clinical trials at Dalhousie University in Halifax in 2005.
For two months, doctors gave them daily injections of anakinra, a receptor-blocking therapy used for rheumatoid arthritis, and found their symptoms disappeared entirely within hours of receiving the shot.
Dr. Barrie Ross, a dermatologist at Dalhousie's medical school whose findings are being published this week, said the breakthrough comes after years of trying to understand the syndrome that afflicts only 600 people in about 15 families scattered across Europe, the United States and Canada.
Sufferers can experience a range of symptoms after only mild exposure to cold. Simply stepping on to a cool floor in the morning can cause joint pains, headaches and fever.
Ross pinpointed the syndrome's chromosomal site with researchers in Germany in the early 1990s and, with colleagues in the U.K., identified the specific receptor responsible for FCAS after six years of research.
That led them to look at drugs like anakinra, which had been proven to work in other inflammatory ailments.
"Early on they just knew the name, so you could diagnose it but there was nothing that could effectively treat it at all," he said about the research in the Journal of Cutaneous Medicine and Surgery.
"Now we have something that's proven to be continuously effective and there have been no proven side effects."
The syndrome coursed through Doherty's family, afflicting her mother, seven of her 14 siblings, several uncles and aunts, and her only child, Sabrina. Most were born with it, but had no way of treating what they simply referred to in French as the mauvais sang, or bad blood.
Doherty dealt with it by drinking up to 15 cups of coffee a day, popping Tylenol and bundling up in several layers of clothing.
For Sabrina Doherty, the revelation that drug injections might alleviate daily sicknesses that limited how much time she could spend outside, where she could live and how she dressed, gave her hope she might feel like other kids.
"It was probably one of the best experiences of my life - to feel normal, to be able to be like everyone else and wear one pair of pants and regular shoes and a long-sleeve shirt and not a jacket and not get sick," she said of the injections she was given during the trial.
"It was the first time I was able to be in a cold environment and not get sick."
The 32-year-old dispatcher, whose 12-year-old daughter also has FCAS, said the treatments carried no side effects and meant she could go out without putting on her usual attire - three pairs of socks, two sets of long johns, thick pants, three shirts and a sweater.
But the Dohertys and other relatives who participated in the trials aren't able to get the drug because of the $15,000 price tag for a yearly supply.
Each daily shot is about $50 and some insurers won't cover it because they argue there's no proof it's effective for the syndrome.
Ross and many in the family are hoping the release of his research will help them secure funding for the drug.
"The publication of our paper gives them ammunition to go to their provincial funding agent or insurer to say here's the proven trial that it is effective," Ross said.
Doctors discover treatment for disorder that feels like freezing on inside
Provided by: The Canadian Press
Written by: Alison Auld, THE CANADIAN PRESS
Mar. 9, 2008
HALIFAX - For more than three decades, Rachel Doherty and her siblings have endured the ravages of a rare illness that chills their insides while covering their skin in a painful rash.
Through her youth, the 62-year-old retiree from Prince Edward Island didn't even have a name for the condition that passed from one generation to the next, leaving most of her relatives feeling like they were "freezing from the inside out."
Now, years after her sister began a crusade to get help, doctors have discovered a treatment that frees them of the burning welts, swollen limbs, weakened immune systems, stomach aches and fever brought on by even the slightest drop in temperature.
"If you're always chilly, day in and day out for years and years, and all of a sudden you just get up and take a needle and you walk out and all the chills are gone ... it's amazing," Doherty said from her home in O'Leary, P.E.I., after receiving injections to quell the symptoms of Familial Cold Autoinflammatory Syndrome, or FCAS.
"It was like stepping into another body."
Doherty and eight of the 80 or so relatives across Canada who suffer from the little-known condition found relief after participating in clinical trials at Dalhousie University in Halifax in 2005.
For two months, doctors gave them daily injections of anakinra, a receptor-blocking therapy used for rheumatoid arthritis, and found their symptoms disappeared entirely within hours of receiving the shot.
Dr. Barrie Ross, a dermatologist at Dalhousie's medical school whose findings are being published this week, said the breakthrough comes after years of trying to understand the syndrome that afflicts only 600 people in about 15 families scattered across Europe, the United States and Canada.
Sufferers can experience a range of symptoms after only mild exposure to cold. Simply stepping on to a cool floor in the morning can cause joint pains, headaches and fever.
Ross pinpointed the syndrome's chromosomal site with researchers in Germany in the early 1990s and, with colleagues in the U.K., identified the specific receptor responsible for FCAS after six years of research.
That led them to look at drugs like anakinra, which had been proven to work in other inflammatory ailments.
"Early on they just knew the name, so you could diagnose it but there was nothing that could effectively treat it at all," he said about the research in the Journal of Cutaneous Medicine and Surgery.
"Now we have something that's proven to be continuously effective and there have been no proven side effects."
The syndrome coursed through Doherty's family, afflicting her mother, seven of her 14 siblings, several uncles and aunts, and her only child, Sabrina. Most were born with it, but had no way of treating what they simply referred to in French as the mauvais sang, or bad blood.
Doherty dealt with it by drinking up to 15 cups of coffee a day, popping Tylenol and bundling up in several layers of clothing.
For Sabrina Doherty, the revelation that drug injections might alleviate daily sicknesses that limited how much time she could spend outside, where she could live and how she dressed, gave her hope she might feel like other kids.
"It was probably one of the best experiences of my life - to feel normal, to be able to be like everyone else and wear one pair of pants and regular shoes and a long-sleeve shirt and not a jacket and not get sick," she said of the injections she was given during the trial.
"It was the first time I was able to be in a cold environment and not get sick."
The 32-year-old dispatcher, whose 12-year-old daughter also has FCAS, said the treatments carried no side effects and meant she could go out without putting on her usual attire - three pairs of socks, two sets of long johns, thick pants, three shirts and a sweater.
But the Dohertys and other relatives who participated in the trials aren't able to get the drug because of the $15,000 price tag for a yearly supply.
Each daily shot is about $50 and some insurers won't cover it because they argue there's no proof it's effective for the syndrome.
Ross and many in the family are hoping the release of his research will help them secure funding for the drug.
"The publication of our paper gives them ammunition to go to their provincial funding agent or insurer to say here's the proven trial that it is effective," Ross said.
