Friday October 13, 2017
Family tree helps solve eight-generation mystery disease
more stories from this episode
Meet a family with a genetic disease so rare that just 600 people on the planet have been diagnosed with it.
The disease it called FCAS, which stands for Familial Cold Autoinflammatory Syndrome.
The disease is seldom fatal, but its symptoms are curious: fever, rash and painful joints triggered by a cool breeze or something as innocuous as an air conditioner. The pain and swelling can be severe enough to force the person to miss school or work one day, then be gone without a trace the next.
The next day if somebody saw me out and about, they'd say she's not sick, she's getting groceries, but from one in the morning to probably about nine or ten that day I couldn't get out of bed. - Nicole Dunlop
Lynn Bidner is one of dozens of family members who has suffered from this mysterious condition. From her home in southwestern Ont., she tells us that her father traced the symptoms back at least eight generations in the family tree,which about two centuries before doctors figured out the genetics and gave it a name.
"My grandmother called it bad blood," Bidner says.
Not too long ago, I met with Lynn and six members of her family — all of whom have been diagnosed with FCAS. The symptoms are so unusual that many people outside of the immediate family are skeptical that it's even a disease. "We really all are masters of hiding," says Lynn. "It was embarrassing with all the questions we couldn't answer because there was no name for it then. We didn't know what it was."
Misunderstood by the rest of the world, family members turned to each other for support. Lynn's niece Kelly Charlton jokingly named the family 'the Rashtafarians.'
The first break in the mystery came when doctors in Halifax published a case report of a woman with the same symptoms as members of Lynn's family. The woman turned out to be a distant relative.
The published case report from Halifax caught the attention of researchers in German and the two teams joined forces. They figured that their search for the mystery gene would be a lot easier if they could study the genes of a family that had the disease, a family just like Lynn's.
The researchers from Halifax asked for blood samples. Lynn's father eventually travelled to Nova Scotia to take part in a study. The researchers found that Kineret (anakinra), a drug for rheumatoid arthritis, alleviates the symptoms. Other drugs have also been shown to be effective, but they are expensive: more than $1,000 per month, but most of the family has been able to access the drug.
Lynn's father did more than participate in research. He assembled a family tree for the researchers complete with names and addresses of family members with the disease. After he died more than a decade ago, the document remained locked away in a filing cabinet.
Then, Lynn rediscovered it.
Now she is using that hand-written family tree her dad painstakingly completed to find other sufferers of FCAS. She wants to let them know that their disease has a name and a treatment.
One of the FCAS sufferers Lynn found is Louise Gallant-Hache from Kapuskasing in Northern Ontario. When Lynn contacted Louise, her symptoms were so bad that she often needed a walker just to move around and at times was unable to even to butter a piece of toast. Thanks to Lynn, Louise has received a diagnosis and is starting treatment.
"For 51 years we've been waiting for this," says Gallant-Hache. "Just having my independence back and not relying on someone to butter my toast is amazing."
Thanks to the family tree and some dogged persistence by Lynn Bidner, Louise and 21 members of her family finally know the name of the mystery disease that has afflicted them and can access treatment.
This story has taught me how important it is that we have a go-to place for doctors to learn about rare conditions, sometimes referred to as orphan diseases.
It has also taught me that some family secrets are well work revealing!