The Stigma of Rare Disease: How Do You Tell People About Your Condition?


Many rare diseases, like my own, have hard-to-pronounce names that evoke fear or boredom from people first hearing them. In my experience, eyes glaze over around the middle of “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.” Giving the acronym “CADASIL” for short doesn’t help much either, as most people have no clue what it is.

While I imagine a majority of us in the rare disease community have studied the science behind the big words of our conditions and have reasonable ideas of what they mean, the names of our diseases can sound like a foreign language to the average person. How do we get around that and explain what’s happening to us? I believe that bringing the words down to understandable levels can help avoid some of the stigma of having a rare disease. Here are some ideas I have used:

  • If the disease is not contagious, say so. It is natural to shy away from someone who could make you sick. I sometimes joke, “I promise not to rub my brain on you.” Of course, no one can get CADASIL from touching my brain, but saying something to lighten the moment and assure the person of her safety can help. If the disease is contagious, giving information up front about how it is transmitted can relieve some anxiety.
  • Keep it simple. Consider naming a less-rare condition that most people know and relating it to your disease. One of my lines is, “CADASIL is often misdiagnosed as MS (Multiple Sclerosis) because our brain images and some of our symptoms are similar.” I then go on to tell them how CADASIL is different from MS and share the importance of knowing which condition a person has. In the world of rare cancers, simply saying the word “cancer” will provide immediate understanding at a basic level. Then you can give more details about the specific type.
  • Tell how the disease affects you. From your appearance and physical condition, it may be fairly clear what the disease is doing to you. Chances are, however, that a lot more is going on than what people can see. Some rare diseases cause “invisible disabilities” and, to someone unfamiliar with the disease, the patient looks perfectly fine. CADASIL is one of those. A CADASILian who has not yet had a stroke may not show any outward signs of the disease. If people could view our brain MRIs and get a glimpse of our compromised blood vessels, they would realize the seriousness of the condition. Instead of carrying around medical records and images, explaining how it feels to have your condition is helpful to others. When people tell me “You look great! Are you feeling better?” I tend to respond with something like “Thanks. Today is not a Couch Day. You won’t see me out and about on those days.” A reply like this is polite and subtle, reminding the person you are still sick.
  • Carry cards about your disease. Online printers such as Vista Print (www.vistaprint.com) offer custom business cards for a low cost. A small image along with a brief explanation of the disease and a list of symptoms can fit on one side. I keep about a dozen CADASIL cards in my purse. They display information about the disease as well as contact details for CADASIL Association (www.cadasilassociation.org), so someone interested can find out more. At first I was too emotional and hesitant to hand out these cards. Over time, I have become more assertive and an advocate for my rare disease. Anytime I am asked where I work, I pull out a card to help explain why I don’t. I give the cards to friends who can’t remember what my disease is called. I offer them to strangers I’ve just met at a social gathering when they ask what I do, or to someone with whom I strike up a conversation.

There are many things we can do to relieve the stigma associated with rare diseases. The ideas here are just a sampling. The public is becoming more aware of us as a group, thanks to the efforts of Global Genes and other active organizations. We can help in our own ways by simply sharing our stories.

Janet Mills is a CADASIL patient and a trustee of CADASIL Association. She is active in several patient support groups online. Janet worked as an elementary school teacher for twenty years and is now on medical retirement. Her previous published writing credits include romantic contemporary and historical fiction (www.janetmills.net).

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Global Genes Comments

  1. Eileen Lewis says:

    Today is the day of my diagnosis of Cadasil. Not sure what to do next.

  2. CJBranTX says:

    Janet – Good article. I have been hesitate about printing the definition of scleroderma on business cards since my position with the SF was eliminated for my state. But just because the “job” is over, my scleroderma was not miraculously cured. You have given me the inspiration to move forward and do it. I appreciate it. Why should I shirk back from spreading awareness about an invisible illness I have had for over a decade, worked as a volunteer for 9 years and as paid staff for 3?
    My question to you and the blog group is in looking for gainful employment, should a patient with an invisible illness tell the potential employer? Especially if asked what the “connect” is on your resume to that particular foundation? People with diabetes don’t. Just wondering. Might be more of an HR question but I’d love to know what others do or have done. Thank you again.

    • Janet Mills says:

      Hello CJ, and thank you for your feedback on the article. You ask a question that would probably receive a variety of answers from others in the Rare Disease Community, if they saw this post. They may not see it here. If you are on Facebook, I suggest you “Like” the Global Genes page if you haven’t already, then post this question there. You should hear from a number of people, and I think it would be a great discussion.

      https://facebook.com/globalgenesproject

      Since I no longer work, I do not have to decide what to do in a situation like yours. I doubt, however, that I would tell a new or potential employer about my rare disease. After working there for awhile and feeling comfortable with the people, I may or may not disclose that later. It is personal and private information, in my opinion. As for replying to a question regarding your connection with a particular foundation on your resume, you could simply say it is a cause you support, or one dear to your heart, or something along those lines.

      If you are not on Facebook, let me know by commenting again here. I could pose the question on the page and let you know what others say (anonymously for all).

  3. Hi, I have a rare genetic form of cancer called familial adematotous polyposis Coli /gardners syndrome/ 8 desmoid tumours , all intra abdominal. The affected gene is in the 5th chromosome , the form I have of this cancer FAP for short affects 1 in a million people , only about 30 people have it in Ireland , of those about 25 have the 1 in 100,000 form of it, again the doctors know what causes it but can’t cure it , if your born with it then u have it but if you have not got it when born you will never get it, my eldest daughter 26 was diagnosed 4 yrs ago, my 24 yr old girl got the all clear but she can pass it on to her son even tho she has not got it, my 3 other kids can’t be tested till their 16, there 12,13,14 now so I’m worried to bits . I’ve had many surgeries in st marks hospital in London in the UK which is Europe’s only hospital that specialises in it, in 2006 they removed a 3 stone desmoid tumour in a 16 hr op , it was a foot in diameter and was 9″ deep, I’ve lost all my bowel,anus,rectum, and have have slices taken off my stomach ,spleen and duodenum, my condition is terminal now and I’m waiting on a bowel and femoral artery transplant which if successful might add 5/7 more years to my life, they. have to remove as many of the 8 tumours as possible which will leave me paralysed from the waist down as they have to sever the nerves going to my legs, I’ve only got 60cm of bowel left but the problem with removing desmoid tumours is that for every one removed two will grow back , in my last op they removed 3 tumours and left in 2 as I would off died if they removed them now I have 8 of them. It’s hard in my health having to travel to the UK 3/4 times a year but I have. To do it, sometimes I’m in there a week sometimes up to 16 weeks so needless to say I have a very bad quality of life but I push on for the love. Of my family , is there anybody here that knows about my form of FAP that can tell me things that I don’t know yet
    Thanks very much
    John Calnan ( rep of Ireland )

    • Janet Mills says:

      Hello John,
      You have an amazing will to live. I give you so many kudos for pushing on despite all your hardships. I do not know about your type of cancer, but chances are, someone connected with Global Genes does. If you are able to do a copy/paste of your story here (so you don’t have to re-type it), then you could post it on their contact page at: /contact

      If you are not able to do that, post another reply to me here, and I will get someone to contact you.

      Hang in there, brother.

      Janet Mills

  4. Janet, that was a very good article. Your suggestions are practical for anyone with an Invisible Illness or something that is difficult to understand. I especially like your reply for people that say you look good; and I know they are hoping you are better, but I say I am really better, because it is up and down. I think I have said something like, “Thank you, it’s a good day.” But have you ever felt like you were letting someone down, when you weren’t having a good day and admitted it? Thank you for sharing these thoughts.

    • Hi Deborah! Thank you for your comments! Definitely I feel that I am letting people down when I admit I am not having a good day, especially my family and close friends. I know what they want to hear, and I can’t always say it. I often don’t let on how bad I feel. At the same time, by telling people that I don’t feel well, I’m keeping them aware that appearances are deceiving, and even when I look fine, I may not be. It’s a tough call sometimes to be upfront or to gloss over the “How are you?” questions or the “You look good!” comments. It can depend on the situation and the person(s), too, on how I’ll reply. It sounds like you can relate!

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