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rare disease day 2026: finding purpose and community despite the odds
14 minute read
from left to right: chiquita hessels, katie hulan, sarah hunt and anne marie carr. these four brave women deal with the harsh realities of living with a rare disease while using their voice to fight for others.
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what is it like to live with a disease that most people have never heard of? you’re always having to explain yourself, your symptoms and what the disease actually means when you’re asked—or you try to avoid questions about your health. you might be confronted by a sheer lack of empathy, only out of ignorance. it’s not because people beyond your inner circle don’t care; they just don’t understand or want to take time to listen and learn.
rare diseases typically don’t make headlines or receive significant research dollars simply because they are rare and touch very few people. so, when people come forward to share their unique stories of living with rare disease, it’s brave and admirable. here, healthing spoke with four people whose lives took an unexpected turn with a rare disease diagnosis.
chiquita hessels, li-fraumeni syndrome (lfs)
chiquita hessels holds people’s hands as they take their last breaths, helping them to die with the comfort of someone’s touch and kindness. safe to say, she’s a special person who knows that life is never a certainty and being there for others is one of the most important things we can offer. as a reflexologist, she ran a healing centre in nanaimo, b.c., that offered wellness therapies that included physiotherapy, counselling, traditional chinese medicine, and palliative and end-of-life care where she brought her healing and energy. “i was becoming known for end-of-life care and that was work i never charged for,” she says.
“that was a privilege to help the body prepare to leave this space. i’d spent time holding my mother and my grandma, my aunt, my stepfather, my uncles. i’ve held many people in my arms as they crossed over. you know, sometimes it can be really challenging and hard. my mom fought to the last breath and she wasn’t ready. she was 66,” she recalls, pausing at the memory. “i had to say, ‘mom, you have to go and it’s ok.’ and she had one tear and then she took her last breath.”
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chiquita has a warm, open smile that puts everyone at ease. now in her early 60s and living on vancouver island, she’s been through loss and upheaval. her sister died of breast cancer at age 32 while her mom and aunt also experienced breast cancer. chiquita was diagnosed with endometriosis at a time when few knew what the painful condition was all about, then breast cancer later at age 47. at that point, she asked for genetic testing to see if she had the brca gene mutation that increases cancer risk. while the test came back negative for the brca gene mutation, she was offered the chance to be part of the first canadian multi-gene panel testing that was happening in b.c.
the testing, just over a decade ago, revealed that chiquita has li-fraumeni syndrome (lfs), caused by a mutation in the tp53 gene, the “guardian gene” in the body. “it’s your master cancer suppressor gene,” she explains. “so elephants have 40 copies of it and rarely get cancer. we have two. we often get cancer, right?”
the rare hereditary syndrome puts people at risk of cancer, primarily sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors and leukemia. those with lfs have a 50 per cent chance of developing cancer by age 40 and a 90 per cent chance by age 60, according to the massachusetts-based li-fraumeni syndrome association (lfsa). women with the syndrome have a 90 per cent predisposition to cancer in their lifetime.
the elephant is the symbol of hope for members of lfsa.
both chiquita’s sons have lfs, as well as her niece, nephew and great-niece. she says her mom, aunt and sister likely had it as well. there’s no medication for the syndrome, but surveillance is key for early detection and treatment.
chiquita went to a lfsa conference to learn more and decided to found lfsa canada, the first international chapter for the syndrome. she also started working with genetic counsellors and oncologists to promote the need for people like herself to access regular screenings. she was asked to sit on the provincial committee to help start the hereditary cancer programme high-risk clinic at bc cancer.
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“we do blood work every three months, ultrasound, skin checks so a lump, a bump and bruises have to be watched. we have a whole-body mri once a year as well as a brain mri and a breast mri. we are surveilled inside and outside, so they see everything inside and outside.”
she says you can’t sweat the small stuff. her first brain mri revealed 12 unusual spots in the frontal lobe that are still being watched (she wonders if they are signs of dementia or alzheimer’s).
has living with the uncertainty of this rare syndrome changed her? she talks about how some people say having cancer is a blessing, which she understands.
“i think i am a strong introverted woman who has the ability to be extroverted when needed, i can speak for those voices who need my help, i can hold a person’s hand through their last breath, i can sit at a table to discuss the needs of patients,” she says of the support and advocacy she’s devoted her days to.
“do i help? i hope i do. ultimately, i think i have learned to be a better listener to my family and others. and i cherish moments like family dinners on mondays when everyone comes home.”
sarah hunt, myxoid liposarcoma
imagine what it’s like to be an incredible athlete, one who grew up training and competing with the national synchronized skating team—a young woman who had mastered that level of precision and performance. but then it’s all taken away from you because of a one-in-a-million rare genetic disease. a random twist of fate.
sarah hunt, 38, felt a lump in her arm during a backcountry canoe trip with her father almost 10 years ago (she was looking for ticks on her body). the discovery led to numerous doctors, tests and, finally, just before her 30th birthday, a diagnosis of myxoid liposarcoma. the disease is a soft tissue cancer that grows in fat cells and can strike anywhere in the body.
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how do you even wrap your head around that?
“there isn’t a treatment that’s going to cause it to go away,” says sarah, who lives in cambridge, ont. “you’re not easily going to meet other people who have the same thing as you. it took me seven years before i met another person who had the same cancer as me. it’s hard to find people who relate and understand. so just that feeling of being alone.”
she went through 25 rounds of radiation and three surgeries to remove the tumour in her arm. those surgeries also cut into some nerves, leading to no feeling in her right arm.
“you could touch my arm and i wouldn’t know,” she says. her right hand became a tight fist from dystonia, a disorder that causes involuntary muscle contractions, and she has botox injections every three months to allow movement.
“because i get botox i have more use of it,” she explains of her dominant hand. “i’m pretty stubborn, so i still do a lot with my right hand.”
it’s clear that sarah’s got ample grit and determination, pushing herself to participate in para-sports for more than a year after her cancer treatment. she raced one-handed in cross-country skiing and represented ontario at the canada games.
“it was awesome. i ended up with a bit more health issues and couldn’t keep going or else i would just still do it. i enjoyed the para community immensely.”
unfortunately, she deals with what doctors say are likely the long-term effects from radiation. the main problem is difficulty regulating blood pressure—it can rapidly drop, leaving her prone to episodic fainting.
“that’s the biggest one that caused me to have to stop doing all the sports. it’s really frustrating. i’m now on some medications that have helped regulate it a bit more, but it’s trying to figure out the best ways around it because whenever i work out then my symptoms get worse again.”
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she calls her disease a “waiting game” that can hit anyone at any time. it requires dedicated surveillance with mri and ct scans and chest x-rays and ct scans, as well as frequent body checks where she and her massage therapist feel for lumps.
while she can’t work a typical nine-to-five job, she started her own practice as a speech pathologist to help kids with challenges. her sister grew up with speech and cognitive delays, and was later diagnosed with autism, benefitting from speech therapy early on, inspiring sarah. she never expected to have her own health issues.
“i used to take a lot of things for granted. i thought i was going to live forever. i was one of those people that just lived full-out, like everything was easy. so i think it changed the way i look at myself,” she confides.
she started a peer group for young people with cancer and they plan in-person activities once a month to get together for support and friendship.
“i’m figuring out a new path in life that’s working for me. i have a service dog now that can let me know when my blood pressure is starting to drop so that i can take medications. so i’ve had to readjust the way i live and figure out ways to work around it so that i can still do a job that i love and find things and passions that way, because i want to feel like i’m contributing.”
katie hulan, alk positive lung cancer
in her 20s, katie hulan was the definition of healthy, she says: active, motivated, launching her career where she never took a sick day—until she got a persistent cough. it was during the covid-19 pandemic, so not a great time to have an ongoing ailment. “i was almost like just clearing my throat at first, so i definitely was not thinking of anything,” says katie from her home in victoria, b.c. she and her husband moved there from toronto with the ability to work remotely during the lockdown.
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“eventually i’m coughing frequently throughout the day and i thought, well, this has been six weeks almost.”
her doctor thought it might be asthma, so she tried several puffers, but the coughing got even worse over time. “i was having a hard time. i was coughing all the time. i couldn’t get a sentence out without stopping to cough. it was very disruptive,” she says of the effects on her work in technology and all the virtual sessions.
“i’m a shy person overall. i’m not one to stick my head out to say much. and so this for me was really hard to navigate as work was very busy and i was excited about projects i was working on but i couldn’t represent them in meetings.”
finally, she was referred for blood work and x-rays that found a mass in her lung the size of an airpod case. her doctor said it might be a blood clot that would require surveillance and medication. he referred her to a specialist.
“i was worried, it could be a blood clot, but my head went to cancer because a friend of mine passed away at 30 years old of stage 4 skin cancer.”
katie had blood taken on a saturday and got a call on tuesday to get to the hospital immediately. she had ct scans on her chest and more blood work. after a long day hooked up to monitors, she learned that she could have lung cancer that had spread to her liver and possibly her brain, so would need to come back the following day for brain scanning.
“my heart sank,” she says of the painful news. “and when they mentioned cancer, i immediately went to the people that i know who unfortunately are not here today because of it. and the fear that overcame me is just like nothing i’ve ever felt before. i don’t think i’ll ever feel that fear again.”
there was a deep sadness in the days that followed but also recognition of her own strength and capacity. she was 33, has never smoked or been exposed to potentially harmful chemicals. she doesn’t have any family history of lung cancer. yet here she was.
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the brain scans revealed four spots in her brain, which terrified her more than the tumour in her lung restricting her breathing. cancer was also confirmed in her liver. she was told she had maybe six months left to live. she was given a treatment plan for palliative radiation to shrink the tumours to make her more comfortable, while still knowing that her cancer was incurable.
she had five doses of lung radiation and then had drilling into her skull for brain tumour radiation. she also had a biopsy and biomarker testing that confirmed alk-positive lung cancer, a rare form that affects five to eight per cent of people with lung cancer.
“i didn’t know what that meant, but my oncologist came running into the room on my appointment day and said ‘you’re alk positive, you won the lottery. we have a specific targeted therapy.’” the treatment is an oral pill that has shrunk her tumours and kept her alive.
“it felt like whiplash,” she says of the shock. now five years later, she’s on the next-generation form of the drug by pfizer, which has helped improve her mental clarity and overall energy.
there are common side effects like high cholesterol, so she takes other medication for control, but is doing well. her journey has changed her outlook and self-understanding of pulling away from the stigma of disease. she also helped found the organization alk positive canada to support others with this rare lung cancer and is expanding its reach and resources through a grant from pfizer.
“i definitely walk around the world with just a lot of empathy of what people might be going through, and i know that i look relatively healthy. and when i moved out to b.c., no one knew that i had this diagnosis, and we moved here six months after my diagnosis. and i didn’t tell people right away because i didn’t want to be that person. i didn’t know how people would see it,” katie says, remembering her fears.
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“so for me, it’s regardless of how someone looks, you don’t know what people are going through. it’s that general understanding, especially in the young 30s when we’re all moving and going quick, i think it was a really big empathy 1-0-1.”
anne marie carr, amyloidosis
some days are better than others for anne marie carr. she has numbness, tingling and pain from the elbows down and from the knees down. her brain doesn’t always get the message to different organs for proper function.
“on boxing day i was coming down the passage in our home and what happens often is the one leg doesn’t follow naturally with the other one. i got stuck. i went down. i had quite a nasty fall. ended up we had to call 9-1-1 because the bleeding at the knee was just pumping out,” she recalls.
another problem is bowel control, where she has to rush to get to the bathroom in time. this makes planning activities and social time tricky.
most challenging is the fatigue that sometimes makes getting dressed feel like a mission. “i’m exhausted. i can get shoes on. hubby very kindly bought me one of those long shoehorns.”
she talks about the challenges with acceptance, worrying less about herself than the impact on her family. she was diagnosed with a rare form of amyloidosis in 2015, a fatal disease that’s caused by the buildup of the amyloid protein that damages different organs.
“it affects the family really badly, too,” she says of her disease, “because for them what’s happening in my life is almost like the long goodbye, if you will, because we know bit by bit things have been taken away, things are getting worse. the effect on them is devastating although they try and hide it.”
her primary caregiver is her husband, mervyn, who tells people that he isn’t really a caregiver because she mostly does everything on her own. the couple moved to the small farming town of hagersville, ont., almost five years ago for quieter days.
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anne marie’s outlook, though, is positive. she takes it all in stride. “well, what’s the point in crying, right? doesn’t get you anywhere.”
when specialists finally determined her disease after a heart biopsy, she was told she’d need liver and heart transplants to survive. her low blood pressure flagged concerns.
“so i was 57, whatever age i was then. i didn’t think i would ever have a diagnosis like that. i didn’t for one minute think it was going to be anything like that. so initially you go through a rollercoaster of emotions. you go from feeling really, really sad and then a little bit sorry for yourself. what am i going to do? i’m going to miss all these key things like my granddaughter graduating.”
she decided that she could put her head in her hands and say i’m done or do something positive. there were no treatments available, only symptom management. she turned to action and co-founded ttr amyloidosis canada, becoming a voice for patients across the country, including those with her specific form of amyloidosis called transthyretin amyloidosis cardiomyopathy (attr-cm). the progressive heart condition is caused by the buildup of abnormal proteins on the heart, making it harder to pump blood and often leading to heart failure.
while a therapy exists for attr-cm, it only addresses the condition’s debilitating symptoms. anne marie is familiar with this road, but she’s now taking a new treatment, vutrisiran, that targets the root cause. it’s an injection from her cardiologist every three months that is quick and simple, offering people like anne marie the chance to slow the disease progression and have more time with family.
she’s keen to talk to others with this rare diagnosis, always ready to listen and offer support.
“some people have come to me and they’ve been devastated. they’ve phoned me and just because they’ve got somebody to talk to, they end up in tears,” she says. “i hate it when someone’s diagnosed with it, but i think what i hate more is not getting the diagnosis sooner because today we have therapies. in 2015, we had nothing. just symptom management and heart and liver transplants.”
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anne marie is a former realtor who is busier than ever in her retirement working with the organization. “there’s always something new to learn with this. i learn from my patients, from the doctors. that’s all good because that way it keeps me ahead of what’s out there.”
rare disease day on feb. 28, 2026 aims to create awareness and share the impact of rare disease on families.
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