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they may have rare diseases, but they're 'not rare people'
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christine macfadyen has vasculitis, a rare autoimmune condition characterized by inflammation of the blood vessels.
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barb boland from st. john’s, nl, has had to live through the worst thing that could happen to a parent – saying goodbye to her daughter.
jennifer lynn boland had sanfilippo syndrome, which is a terminal, neurodegenerative, rare disease.
pei resident christine macfadyen went from being a very healthy 24-year-old to a very sick one within a matter of days. now 40, macfadyen has vasculitis, a rare autoimmune condition characterized by inflammation of the blood vessels.
kerilee sheppard from st. john’s, nl, deals with daily neurological symptoms like occipital nerve pain, headaches, speech issues, and fluctuating energy levels. she has cerebral cavernous malformations (ccms), yet another rare disease that manifests in clusters of dilated blood vessels in the brain or spinal cord.
kerilee sheppard’s rare disease means she has to meticulously plan out her activities, but because it’s invisible, others often don’t understand her struggles. contributed
three different people.
three different diagnoses.
but there is a common thread: the exhaustion of explaining a life that most people—even some doctors—don’t understand.
here are their stories as we prepare to commemorate rare disease day 2026 on feb. 28.
‘unfixable’ reality of sanfilippo syndrome
jennifer lynn boland was born on june 2, 1977, and her mother, barb, recalled that she was a healthy and happy baby. although very smart as a preschooler, jennifer started falling behind when she started school.
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speech therapy and a transfer to a school that offers special education classes followed. there was even a diagnosis of a learning disability from a doctor in the u.s.
“as parents, i think we were in denial that there was a problem that we could not fix,” said barb.
when jennifer was 17, bloodwork performed at the mayo clinic in minnesota suggested mucopolysaccharidosis type iii (mps iii), also known as sanfilippo syndrome. the diagnosis was later confirmed back home in st. john’s.
mps iii is marked by neurodegeneration, which is essentially a decline in cognitive and physical disabilities. developmental delays, behavioural issues, seizures, and other severe complications are part of the symptoms. since the condition is progressive and there is no current cure, many of those affected don’t survive past their teenage years. jennifer lived until she was 44.
“we were totally devastated when (the doctor) told us that our daughter has a shortened life expectancy and would lose her ability to walk, talk, and do anything for herself,” recalled barb.
“there was not much information available back then, unlike today, when you can research everything on the internet.”
even so, the bolands contacted the canadian mps society and attended some of the mps national conferences to connect with other families going through similar experiences.
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getting jennifer through the school system had its ups and downs. at 21, jennifer was referred to a social worker who gave the bolands some much-needed respite from caring for their daughter, while also helping with their daughter’s behavioural problems.
“unfortunately, there is not much in the way of programming after the school systemm” barb added.
somewhere in those years, jennifer stopped talking, and in 2011, she lost more of her abilities, including being able to walk. lack of sleep and extreme agitation were part of this time period, too.
despite these struggles, the bolands kept and cared for their daughter at home.
“she was our daughter, and we loved her dearly. there was no thought of giving her up, although a couple of social workers suggested it,” her mother said.
the bolands had the support of social services.
“we were lucky to get good respite workers, one of whom was with us for 17 years,” she added.
even so, boland feels that there is a lack of programming for adults with disabilities in canada.
they lost their daughter to mps iii in 2022.
kerilee sheppard at the hospital. contributed
‘not rare people’: kerilee sheppard’s fight for recognition
kerilee sheppard’s rare disease story began in 2007 with a sudden brain bleed. sheppard was living in vancouver at the time, where she was misdiagnosed and sent home.
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the symptoms worsened, and sheppard went back to the hospital. after an emergent brain surgery, doctors diagnosed her with ccms.
“genetic testing showed i carry a krit1 (ccm1) variant affecting a very rare protein pathway that helps keep blood vessels stable,” explained sheppard.
ccms are abnormal clusters of small blood vessels, often resembling small mulberries or pieces of popcorn, which can leak blood and cause neurological symptoms.
sheppard, very recently, went through a posterior fossa craniotomy in halifax.
kerilee sheppard recently went through a posterior fossa craniotomy in halifax. contributed
living in atlantic canada means dealing with a limited number of specialized neurosurgeons. sheppard’s own case was reviewed by four neurosurgeons across canada and one in the u.s.
“that process alone showed me how complex rare conditions can be to assess,” explained sheppard.
“since my time in st. john’s, i have encountered misinformation, lack of knowledge, and an unwillingness to listen to the patient.”
kerilee sheppard is surrounded by her loved ones in hospital. contributed
sheppard, much like others with rare diseases, has had to become her own advocate, pushing for scans, keeping a record of changes in her disease, requesting referrals, and seeking out second opinions.
“over time, i’ve learned about my disease, and i want to share, but i am sometimes met with resistance and a lack of willingness to expand horizons.”
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there is a vast degree of unpredictability that comes with ccms. yet, the “invisibility” of the condition means that people are often unaware of your struggles.
everyday activities like taking a shower, driving, spending an hour at your computer, or walking on the beach are all things sheppard has to plan carefully.
“rare disease patients are not rare people,” shared sheppard. “we are your neighbors, parents, business owners, and volunteers.”
“what’s rare is system readiness and public awareness. earlier recognition, research support, and access to specialists connected to advocacy networks truly change outcomes.”
p.e.i. resident christine macfadyen went from being a very healthy 24-year-old to a very sick one within a matter of days. contributed
lighting up the island: macfadyen turns personal trauma into pei support
christine macfadyen started experiencing discomfort in her back, swelling in her legs, and blood in her urine when she was 24. other symptoms included migraines and feeling sick to her stomach.
“i went to the doctor twice but was told that i had a uti both times and went home with antibiotics,” she recalls.
it was at charlottetown’s queen elizabeth hospital er that medical personnel finally did the tests necessary to confirm that she was in renal failure.
“this was the beginning of a very, very long road to diagnosis, management, and treatment,” she said.
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macfadyen spent a month at the victoria general hospital in halifax, receiving dialysis, plasma exchange therapy, and high-dose steroids and chemotherapy medications. a pulmonary hemorrhage put her in the icu for a few days.
“doctors tell me that i survived a disease that should have killed me,” she added.
vasculitis can affect just one organ or several. the inflammation caused by the condition can restrict blood flow and lead to damaged organs and tissues.
“it was difficult not knowing my diagnosis, and when i finally did get my diagnosis almost 10 years later, i finally felt heard, understood, seen, and like my life mattered,” she said.
getting there meant having to go through the exhausting cycles of having to explain her symptoms and story to healthcare professionals (and others) over and over again.
“vasculitis is intertwined into every area of my life every day
—
by talking about it and also by my symptoms and managing those,” said macfadyen. “it is very hard on the head sometimes.”
government buildings on p.e.i. light up for rare disease day, an awareness initiative that was championed by christine macfadyen. contributed
macfadyen started a facebook group called pei rare disease group to help people living with rare diseases in p.e.i.
“i think people feel less alone when they have this group to go to for support.”
she has also been an advocate for rare disease day, even succeeding in getting government buildings to light up for awareness.
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“on a cold february evening on prince edward island, seeing those lights signifies community, togetherness, and support, and i believe, for one day, people who have a rare disease feel seen and less invisible,” she said.
this article was originally published in the st. john’s telegram on february 18, 2026.
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