Christine MacFadyen’s Journey: Navigating Life with a Rare Disease
Forty-year-old Christine, who lives with her long-time partner, Brent, on Prince Edward Island, in Canada, describes herself as a “family and friends’ person,” someone who adores her loved ones and spending time with them. She finds her happy place at the beach, searching for sea glass, and believes in smiling and having fun. Yet, beneath this joyful exterior lies a challenging journey with a rare form of vasculitis: granulomatosis with polyangiitis (GPA).
A Decade of Symptoms and Misdiagnosis
Christine’s first symptoms appeared when she was just 24. Renal failure, swelling, migraines, sinus symptoms, and pulmonary failure marked the beginning of a long and difficult diagnostic journey. It took 10 years for Christine to receive a proper diagnosis. “I had to leave the province I live in and travel 2,000 km away in Toronto, Canada, to get a final diagnosis,” she recounted.
When she first felt sick, a near-death experience in 2009 saw Christine’s kidneys and lungs fail, leading to an ICU stay at Victoria General Hospital Halifax, Nova Scotia, on a ventilator and dialysis to keep her alive. “I came through it after a month, things turned around, and I survived a disease that many doctors said should have killed me.”
Finally Receiving Answers
In July 2019, Christine’s medical team — a vasculitis specialist, ENT, primary care physician, nephrologist, and pulmonologist — finally confirmed her diagnosis through extensive testing, including blood work and a kidney biopsy. Christine was previously unfamiliar with vasculitis, especially its rare forms, and experienced years of misdiagnosis and ineffective treatments. The definitive diagnosis brought immense relief.
Living with GPA: Daily Challenges
Today, Christine manages her GPA with Imuran®, a medication that brings its own set of side effects, including hair loss, weight gain, and exhaustion. The disease profoundly impacts her daily life, causing constant leg pain, persistent exhaustion, and increased susceptibility to illness due to a suppressed immune system.
Vasculitis has also forced Christine to step away from her career as an early childhood educator. “I’m unable to work in my career as I can’t get down on the floor with the children any longer. I’m unreliable due to the vasculitis,” she explained.
The emotional and mental toll has been substantial. Christine has grieved the loss of the life she envisioned: her career, the possibility of having children, and her independence. For years, her mental health suffered, leading to hospitalizations for both physical and psychological well-being. “I sometimes feel as if I’m a burden on my loved ones,” she expressed. I feel sad I’m missing out on the life I had planned.”
Support, Advocacy, and New Purpose
Despite the challenges, Christine is not alone. She credits her family and loved ones for their support, and particularly her mother, for helping her navigate her illness. Flare-ups are a difficult reality, often requiring prednisone, a drug with significant side effects. During these times, Christine prioritizes resting in bed and regular doctor visits.
To cope, Christine has found invaluable resources in the Vasculitis Foundation and various Facebook support groups. Her near-death experience instilled a profound appreciation for life. “Life is so very short,” she affirmed. “We only get one.”
Christine is also a passionate advocate within the rare disease community. She co-leads a local rare disease support group, champions awareness initiatives like “lighting up” Prince Edward Island landmarks for Rare Disease Day, Vasculitis Awareness Month, and actively engages with her local health agency.
Wisdom for Others Facing Vasculitis
For those newly diagnosed with vasculitis, Christine offers heartfelt advice: “Take things one step at a time, one day at a time. Reach out to other people who have the disease as they are most helpful. They know what you’re going through. Advocate for a strong medical team. Live life to its fullest.”
Looking ahead, Christine finds hope in her family and the possibility of feeling better. Her mantra, “One step at a time,” guides her through her ongoing journey with vasculitis.
