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world scleroderma day: another rare disease that takes years to diagnose

access to treatment and finding a doctor who is familiar with scleroderma are just two challenges facing people who live with this rare autoimmune disease.

by robin roberts

published jun 20, 2023

last updated jun 29, 2023

6 minute read

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6 minute read

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the scleroderma association of b.c.'s moving to a cure event has raised more than $100,000. supplied

from the greek words “skleros”, meaning hard, and “derma”, meaning skin, scleroderma is a rare autoimmune disease that is indeed hard on the skin. and the digestive system, and the heart, and the lungs and the kidneys, in some cases. the result of an overproduction of collagen, scleroderma, also known as systemic sclerosis, falls into two categories — localized, which affects only the skin, causing it to harden and tighten, and systemic, which affects the skin and organs and may cause them to fail. the disease can also interfere with motor skills and cause mobility issues. it also leaves its mark on patients’ faces and hands, often leaving them disfigured.

scleroderma can also cause chronic joint pain, inflammation and muscle swelling. most patients are also affected by raynaud’s phenomenon, which makes them sensitive to cold and causes the skin on their fingers to turn white or blue in cold temperatures or when they’re stressed.

there is no cure and the cause is unknown. life expectancy for the systemic type is three to 15 years while those with localized scleroderma may live a normal life with only minor symptoms. scleroderma affects about 23,000 canadians, with women five to six times more likely to have it than men. it typically strikes people between the ages of 30 and 50, but those in their twenties are being diagnosed more frequently, likely due to early intervention. treatment can be multi-pronged, depending on the type, symptoms and the organs affected, according to the scleroderma association of b.c. (sabc), and can range from lotions to ease itching to anti-inflammatory medications or corticosteroids, to immune-suppressants and biologic drugs that target specific parts of the immune system.

in recognition of scleroderma awareness month, we spoke with sabc president roseanne queen, who has surpassed her own prognosis of five years to 26.

what is the mission of the scleroderma association?

r.q: it is threefold: we support scleroderma patients by promoting outreach and education, including monthly “come zoom with us” support meetings where people share stories, but more importantly, we provide tips for how to deal with scleroderma. we also hold educational seminars where professionals come and talk to us about the aspects of scleroderma, and tell us how to manage the disease.

the second thing is public awareness and information. we have our moving to cure scleroderma campaign, with three walks this year, and a virtual walk for people who can’t make it [to official walk sites]. i think we’ve raised over $100,000 so far, and we hope to reach $150,000.

the last thing we do is support research. since we started — it will be 40 years next year — we’ve raised over $1 million [for research]. that’s pretty good for a very small, volunteer organization.

we don’t really [collaborate] with scleroderma canada; we’re more aligned with the manitoba and quebec [associations]. one of the things scleroderma canada does for us, though, is when they receive a grant to work on getting a drug approved through pharma they will include all the provinces. and they [lobby] government to approve [any new] drugs because it’s easier as a national body.

what are some of the policy challenges you deal with?

trying to get funding from the government. they won’t give any money because there are not enough people in b.c. or canada with scleroderma. we do our own fundraising; it’s all patient-driven.

another challenge is that the drugs aren’t always accessible — provincial medical plans or private plans won’t pay for them. you have to apply for special authority, and then wait to see if you can be covered. most of our members are on disability, so the stress of having to pay thousands of dollars does not help people’s health.

roseanne queen, president of the scleroderma association of b.c., was told she would only survive five years. supplied

also challenging is the lack of doctors. you need a gp to refer you to a specialist, but how do you get a gp? we need to see so many specialists — rheumatologists, respirologists, gastroenterologists, dermatologists — and we’re all waiting. meanwhile your body’s changing, you’re having all these issues, you haven’t been diagnosed, and you just wait.

in addition to the daily challenges of living with pain, fatigue, depression, mobility issues, there’s the fear of not knowing how the disease will progress. i was told i would be dead in five years. i’m lucky, i’m 26 years [past that] and i’m pretty healthy. lots of others have lived 30 and 40 years [longer].

what is your message to the decision makers?

we shouldn’t have to have a referral to see a specialist. it sometimes takes a gp years to figure out what’s wrong with us. the biggest challenge is to get people diagnosed as quickly as we can, but there’s just not enough resources for doctors and specialists.

is the situation improving now that more government funding has been allocated for recruiting and retaining doctors?

i’m hoping. i’m also hoping the younger rheumatologists are going to know a bit more about scleroderma. most of the gps don’t know where to begin because they’ve never seen it before. if the government is focused on getting more gps, we have a better chance to see a doctor, and that’s a good start.

what do most people not know about the disease?

besides the fact that most people have never heard of it, it’s that scleroderma is not always visible to the eye. but someone could [look good but] be suffering with internal problems, because it affects the lungs, the digestive system and others. sometimes our hands are somewhat deformed, or completely curled, or we have raynaud’s. i have tried to pay for something at a store and my hands are five different shades of blue. i look like a corpse, and people stare or step back. they think it’s contagious. i always explain what it is because i want to educate people.

what about treatments for scleroderma?

because we’re all so different, our treatments are all individualized and follow a lot of trial and error. but they’re starting to use more immunity-modifying biologics instead of the standard steroid therapy. i’m on a biologic and it’s working for me. some patients worry about the long-term effects of the drugs. but i’d rather have a quality of life where i can function than worry about what can happen down the road.

what about new research?

we support as much as we can through our sabc research program for researchers at st. paul’s foundation [in vancouver]. british columbia has the only scleroderma clinic in western canada and it was started in conjunction with one of our co-founders who started working with some of the rheumatologists to get the scleroderma clinic at st. paul’s. we have given them over $400,000 over the last 12 years for research.

right now they’re trying to find the switch that triggers the auto-antibody production [that causes overproduction of] collagen. once they know what the trigger is they will identify how to turn it off. we’ve enrolled hundreds of members who gave samples of skin and blood to use in a genome research project. once researchers find the trigger, the next thing is convincing pharma to spend the money to produce a drug that will slow or cure the disease. and it takes millions to develop a drug. they’re a long way away, but at least they’re giving us hope.

we know our researchers at st. paul’s hospital really well. one or two always come to our events and talk about the latest updates. someone once asked, ‘why do you do this research on a shoestring budget when you can study cancer and have millions of dollars to work with?’ the researcher said, and others have said this as well, that he does it because people with scleroderma are so sick and yet they’re so positive. that really reinforces why we’re doing what we’re doing.

robin roberts is a vancouver-based writer.

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robin roberts

world scleroderma day: another rare disease that takes years to diagnose

access to treatment and finding a doctor who is familiar with scleroderma are just two challenges facing people who live with this rare autoimmune disease.

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what is the mission of the scleroderma association?

what are some of the policy challenges you deal with?

what is your message to the decision makers?

is the situation improving now that more government funding has been allocated for recruiting and retaining doctors?

what do most people not know about the disease?

what about treatments for scleroderma?

what about new research?

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world scleroderma day: another rare disease that takes years to diagnose

access to treatment and finding a doctor who is familiar with scleroderma are just two challenges facing people who live with this rare autoimmune disease.

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what is the mission of the scleroderma association?

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what are some of the policy challenges you deal with?

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what is your message to the decision makers?

is the situation improving now that more government funding has been allocated for recruiting and retaining doctors?

what do most people not know about the disease?

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what about treatments for scleroderma?

what about new research?

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