Approximately 300 million people worldwide are living with a rare disease. B.C. residents Courtney MacMurchy and Barbara G. are two of them.
In light of International Rare Disease Day on Feb. 29 乌鸦传媒� the rarest day of the year 乌鸦传媒� Barbara G. (who has requested to keep her last name private) wants people to know why the day matters.
乌鸦传媒淪ince my diagnosis, I乌鸦传媒檝e found it very difficult to find not only support but advocacy for people with rare diseases,乌鸦传媒� she said. 乌鸦传媒淏ecause most of them don乌鸦传媒檛 have the same rare disease, the advocacy just really isn乌鸦传媒檛 there. Through no one乌鸦传媒檚 fault.乌鸦传媒�
Rare Disease Day defines a rare disease as something that affects less than 1 in 2,000 people. In Barbara乌鸦传媒檚 case, after being diagnosed with celiac disease at the age of 24 in 1984, she went on to develop two rare diseases: autoimmune hepatitis (AIH), where the immune system attacks the liver cells, and primary biliary cholangitis (PBC), a rare progressive liver disorder.
Barbara, who now lives near Victoria, lived in the Yukon at the time.
乌鸦传媒淪o I start researching on the internet, because what do the doctors there know 乌鸦传媒� I乌鸦传媒檓 in the Yukon, they deliver babies and stitch people up,乌鸦传媒� she said.
Despite the challenges, the veteran faces life one day at a time and has since relocated to the Island to access better medical care.
乌鸦传媒淭ypical positive-minded go-getter, that乌鸦传媒檚 me,乌鸦传媒� she said.
Rare Disease Day works to advocate for equitable health systems to meet the needs of people affected by the exceptionally uncommon.
There are universal challenges faced by those living with a rare disease, the organization said, including a need for research to be international, a lack of scientific knowledge and quality information on the disease that often results in a delay in diagnosis, and a heavy social and financial burden on patients.
For fellow Greater Victoria resident Courtney MacMurchy, 42, who was diagnosed with Chiari malformation type 1 in March 2023, it meant starting a GoFundMe to get an important surgery in Barcelona.
Chiari malformation is a disease where the cerebellar tonsils descend down into the spinal column, causing significant pressure on parts of the brain and a reduced flow of cerebrospinal fluid. The procedure, done at the Institute Chiari & Syringomyelia, cost just over $30,000 and released a phylum to allow fluids to start flowing again around her brain and back.
The fundraiser provided enough to cover the costs of the surgery, which was not covered by Canadian medical care, and the family paid for travel expenses.
乌鸦传媒淭he GoFundMe is absolutely what got her there. I don乌鸦传媒檛 know how else we would have done it. We would乌鸦传媒檝e done it, but it would乌鸦传媒檝e been a massive debt for the rest of our days,乌鸦传媒� her mother Maureen MacMurchy said. 乌鸦传媒淲e乌鸦传媒檙e so grateful to the Sidney people who stepped in, it was really amazing. And to Peninsula News Review for sharing Courtney乌鸦传媒檚 story.乌鸦传媒�
Courtney had the surgery in October, and her mother said it was a success.
乌鸦传媒淭hey told her it乌鸦传媒檚 a long process, it can be two, even three years, but she乌鸦传媒檚 certainly feeling better than when she went.乌鸦传媒�
While Chiari is not curable, the hope with the procedure is that the symptoms, such as brain fog and debilitating headaches, will be stopped enough so that Courtney 乌鸦传媒� who is a mother to a 13-year-old 乌鸦传媒� can get back to the point of working and doing the things she did before she fell ill.
乌鸦传媒淭he biggest thing I乌鸦传媒檓 seeing in her is positivity that things are going to get better and there are things that are better,乌鸦传媒� Maureen said.
Barbara G., is taking things one day at a time, as her prognosis is uncertain and her conditions have no known cause.
乌鸦传媒淚t乌鸦传媒檚 fearful. I think more frustrating than anything because we all have long-term goals for our life 乌鸦传媒� they say we乌鸦传媒檙e not sure how long this is going to affect you, and no one really discusses what to expect as it progresses,乌鸦传媒� she said.
Like many with a rare disease, she finds it hard to find support or advocacy groups.
乌鸦传媒淧eople who actually know what it乌鸦传媒檚 like to live with rare disease, finding individuals like that is very, very hard.乌鸦传媒�
She also wants people to know something about rare diseases.
乌鸦传媒淛ust because we don乌鸦传媒檛 look sick, cause so many people say that to us, which is almost an insult, you just want people to understand that a lot of illnesses cannot be seen visually and cannot be explained in two to three sentences. And even though we乌鸦传媒檙e a very small portion of society, our needs for advocacy and support are just as important. Rightly so, people are getting their support for their disorders and we should too,乌鸦传媒� Barbara said.
MacMurchy said that Courtney乌鸦传媒檚 story is a great illustration of how important fundraisers can be for the rare disease community and how awareness brings hope.
乌鸦传媒淐ertainly the fundraising and seeing how people cared, that was something very positive that came out of this experience. She realized she乌鸦传媒檚 not on her own, there are people who care and there乌鸦传媒檚 just no words for the amount of gratitude we have.乌鸦传媒�
