Rare disease sufferers fight for support in the face of stigma
“I’m one of the lucky ones.” Gail Wright says she feels fortunate because, despite having been diagnosed with a rare, incurable liver disease five years ago, her liver is undamaged and she has no other symptoms associated with primary biliary cholangitis (PBC).
Previously known as primary biliary cirrhosis, PBC is an autoimmune disease marked by slow, progressive destruction of the small bile ducts of the liver. When bile ducts are damaged, harmful substances can build up and lead to irreversible scarring of liver tissue.
Professor Mark Swain, who heads the immunology and gastrointestinal research group in the Department of Medicine at the University of Calgary, explains that the extremely toxic bile in what he describes as a “classical autoimmune disease” kills liver cells by laying down scar tissue, which accumulates over time to lead to cirrhosis of the liver, culminating in liver failure.
While there is a genetic predisposition to PBC it may also be triggered by a health event, a trauma or environmental factors. Common symptoms of PBC are extreme fatigue, itchiness ( pruritus) and fat deposits under the skin ( xanthomata), particularly around the eyes.
Wright, the president of the PBC Society of Canada since 2015, says her good luck extends beyond being in the early stages of PBC and still being asymptomatic. She also has a general practitioner familiar with the rare disease that affects one in 1,000 women over the age of 40. (Swain notes that women are more often affected than men in all autoimmune diseases.)
“PBC is just not on the radar for most doctors, and the chronic fatigue that is a common symptom can be confused with depression,” she points out. “But my GP had been taught by a specialist in PBC. So, after seeing from routine blood tests during my annual checkup that my liver enzymes were elevated she referred me to a liver specialist, even though I was feeling healthy and had no complaints or symptoms.”
After a year of extensive testing, Wright was diagnosed with PBC. “I was told there was no cure and only one drug available to manage the disease. For months, my husband and I had a cloud hanging over us as we wondered what the future was going to be and how much time I had left.”
It is cases like Wright’s that demonstrate the need for increased awareness of rare diseases like PBC. This Tuesday, Feb. 28, Rare Disease Day shines a light of patients like Wright whose rare condi- tions — while relatively lesser known — cause no less hardship. Because rare diseases like PBC are less known, sufferers face delays in diagnosis.
According to Swain, treatment options for PBC are characteristically limited. “For those who are non- responsive to the treatment, the disease progresses. For those who respond to it, their disease will go into remission, so it doesn’t progress any further. But, like all autoimmune diseases, we don’t have cures, we can exercise control only.”
Despite the current situation, however, Dr. Swain adds that ongoing research holds the promise of more options on the horizon.
In Wright’s case, she responded to the treatment and still has none of the symptoms associated with PBC. “If you get an early diagnosis and respond to the treatment, you have the same life expectancy as the average population,” she says. “But medication is just the beginning. If you have a chronic disease, you have to live with it for the rest of your life. And, because it is progressive, you fear the future.”
The PBC Society of Canada, a national charitable organization founded in 2003, offers support through providing information to patients and their families and raising awareness of the disease across the medical community and the general public.
“If we want positive change for people, many of them suffering social isolation because of PBC, it takes more than the compassionate support we can provide each other,” says Wright. “We have to get our voices heard.”
For more i nformation about PBC, visit www. pbcsociety.ca.