The Scleroderma Chronicles: Rare Disease Day, 2023

Well, here it is again. Rare Disease Day. I kind of was going to ignore it this year because I’m quite frankly worn out by my… wait for it… rare diseases, but I also feel like I should pull myself together and represent for the community again.

People with rare diseases are referred to as Zebras in the medical community. I obtained my zebra status when I was diagnosed with systemic sclerosis in 2014. This zebra was sent to me last week by my Most Knitworthy Niece Melissa.

I wrote a pretty darn good post last year about my journey with a rare disease which you can read here if you want. I talked about rare diseases in general, my specific conditions, and the many things that have been said to me by my doctors over the years. I thought about just reposting what I wrote last year, but I’ve been reflecting all morning on some recent events that kind of shine a light on my situation and that of other people who are coping with rare conditions.

  • I recently managed to go knit with my fellow members of Frayed Knots. This was a big social outing for me because it’s hard to get out of the house, and I have to be having a really good day to go to something like this. Knitting with friends is just “normal” for most people, and it would just be a little part of their day, but for me this was something that I had to prepare for a couple of days in advance, and then recover from in bed the next day. Many rare conditions are chronic, and chronic illnesses can be very isolating by their very nature.
  • A woman at the knitting group questioned my decision to wear a mask. I started to explain, but she cut me off to say that I was doing it so I could feel comfortable. It was a little condescending and suggested that I was being paranoid. Truthfully, my immune system, crushed by the drugs that I am taking right now, is compromised in its ability to make antibodies. If I catch a viral disease like the flu or Covid, there is a good chance that I won’t survive. My vaccinations have a low chance of protecting me for the same reason. For people with rare diseases, life is fraught and full of difficult decisions. For me, and for many other immunocompromised individuals, simple decisions involve life/death level risk analysis.
  • Another woman at the knitting table was struggling with long Covid and shared her difficulties with returning to work. She especially felt crushed by the attitudes of her coworkers who seemed to feel that she was “fine” and just trying to get attention. Yep. Been there, done that. Many rare diseases are genetic or largely invisible to others. Invisible illnesses are especially hard to cope with because others tend to question their validity.
  • I’m in several online support groups, and there are always discussions about what drugs to take, and whether the side effects are worth the risks. Yep. There are no specific drugs for systemic sclerosis, no cure, and treatment can involve a patchwork of risky off-label drugs. The drugs that are used are often non-specific carpet-bombing like approaches. Rare diseases have fewer treatment options because there are only a limited number of patients.

Over the last year my wonderful team of physicians have been suggesting that I am really unusual and have been extremely responsive to my emails. They clear an hour for appointments with me. I’m one of the very lucky zebras who has managed to get diagnoses, secured treatment, and am benefiting from a team of collaborative, interdisciplinary physicians who actively communicate with each other and with me; just last week my rheumatologist told me that for a patient with my status this is the only way to deliver care. I’m so grateful to have secured this level of medical attention, but I also feel a little nervous about it. I spent some time this morning trying to work out the probability of one person having the several medical diagnoses that I’ve racked up since 2014. Like, just how rare am I?

The National Organization for Rare Disorders estimates that there are 100,000 patients with systemic sclerosis in the United States. That’s rare, but still, a big club, right?

The 15% Rule is a general measurement of the risk of severe organ involvement in systemic sclerosis. As it turns out, quite a few of the major lung, heart, and kidney complications associated with systemic sclerosis happen about 15% of the time. I have Sjogren’s Disease overlap with my systemic sclerosis, which happens in about 13% of patients. Suddenly, I’m in a much smaller group of about 13,000 patients.

My most worrisome complicating conditions are diastolic dysfunction (a type of heart failure), pulmonary arterial hypertension (PAH) and interstitial lung disease (SSc-ILD). I looked up the risk of having each of these conditions using the 15% rule data, and it turns out the risks are 16% (diastolic dysfunction), 15% (PAH) and 35% for the SSc-ILD. Did you notice the the ILD doesn’t fit the 15% rule? Yep. It’s much more common and is the leading cause of death in systemic sclerosis patients. I found that risk factor here.

I brushed up on my probability math (you multiply the probabilities of independent events…), and after running the numbers:

100,000(13/100 x 16/100 x 15/100 x 35/100)

I came to a grand total of 116 other patients in the US who share my set of diagnosed conditions.

Oh.

See, I have lots and lots of stripes. Stripes in purple, teal, periwinkle, red, green, and blue: these are the awareness colors for my conditions.

I just ordered that rainbow zebra unicorn shirt! I plan to wear it with my mask on my next social outing…

You can learn more about Rare Disease Day or my conditions at the links below.

Author: Midnight Knitter

I weave, knit and read in Aurora, Colorado where my garden lives. I have 2 sons, a knitting daughter-in-law, a grandson and two exceptionally spoiled kittens. In 2014 I was diagnosed with a serious rare autoimmune disease called systemic sclerosis along with Sjogren's Disease and fibromyalgia.

21 thoughts on “The Scleroderma Chronicles: Rare Disease Day, 2023”

  1. It’s not the content of the post I like, Marilyn, because that’s fucking terrifying.
    It’s your usual well-balanced view of yourself and the enormous medical load you carry.
    I can only hope that the rest of the 116 have already found you; because they would without any doubt benefit from your words.

    1. Yeah, it is really a blow when you first get the big diagnosis of systemic sclerosis, but then you adjust to the new reality and the terror kind of fades away. It’s all good at this point. In spite of the accelerated pace of my illness over the last two years I’m doing better with the great doctors and new meds that I’m on. It was so much worse when I couldn’t convince doctors that there was really something profoundly wrong with me.

      I did find someone with a very similar set of complications to match my own. We are rainbow zebra unicorns together!!

      Thank heavens for cats, knitting and this blog. It is good to have a a sense of purpose and connections to other people. 🙂

      1. I’ll pass on knitting rather than crocheting .. But cats and your blog ? – full agreement, m’dear ! I sometimes wonder if one is not able to express oneself better to a Web friend than to one sitting in the next seat ..

      2. The knitting gives me a sense of purpose, and the writing on the blog really helps me organize my thoughts. See, it is all about me. 🙂

        I love crochet, but I can’t do too much because of my crappy hands and wrists.

  2. Of course it is – it’s MEANT to be. Blogging (to me) is opening up one’s life to others to see if anyone has any interests to share. The fascinatin thing about yours is how interesting it is even though ‘way above the heads of most of us – that is, the scientific|medical parts. 🙂
    I have now to go collect my adored Boodie from the Veterinary Hospital where, at the tender age of 4 and a bit he has just had most of his teeth removed, the poor little bugger. This is what you often get with rescue animals, of course .. But he is a very lovable and loved little feller, and as long as he will eat his Royal Canin Dental soaked and softened, life will be fine.
    Kiss your two healthy children from me.

    1. Oh, no. Poor Boodie! Both of my kitties are rescues, but they were captured as kittens so they have been taken care of since then. I hope that he does well with the Royal Canin.

      1. Brought him home last night and HE ATE !!! Jesu cristus, I was amazed, Marilyn ! Just had 17 teeth removed and he still ate his soaked scrabblies !! Lookin good, kiddo. 😀

      2. Yay!! Keep up his pain meds! One of my kitties (now long gone) had several teeth removed and he wolfed down his soft food too, but I had to keep up the pain killers for several days as he recovered.

  3. I know of plenty of people who are still catching Covid. I find it infuriating that other people find the need to question someone else’s decision to wear a mask. You are a unicorn I am glad to know 🦄 your patience with it all is inspiring

    1. I’m hearing of a lot of people with Covid, too. Sadly, there are a number of people who are appearing in the scleroderma support groups online who introduce themselves with something like… I had Covid last May, and now I’m here… There is an emerging body of evidence that it is triggering autoimmune disease and of course the long Covid people share some of the inflammatory disease symptoms that we have like the fatigue, muscle/joint pain and brain fog. I keep thinking that people are tired of it all and just want to pretend that it is gone, but if they had my life they would all be wearing masks!!

      1. When my neighbour’s husband had Covid she didn’t move to the spare room, she said “I may as well just catch it now and be done with it”…I said, but “what if he has it mildly and you end up with long Covid?”, luckily she didn’t but the way people assume they won’t is what puzzles me. I still wear a mask if I go in the supermarket and it’s crowded.

  4. I was not familiar with Rare Disease Day or with most of the diseases/conditions you cite. Your good humor in the face of all that is remarkable. Truly a beautiful rainbow zebra unicorn.

    1. Thank you! Part of the purpose of Rare Disease day is to make people aware of all these unusual, isolating and untreatable conditions that exist and the need for funding for treatments. There was a special provision in US funding for orphan disease research, but I think that it was negatively impacted by budgetary decisions in the Trump administration. I’m lucky (well, not that lucky) that there is overlap with other conditions that helps produce drugs for my conditions. Ironically, Covid has produced a larger patient population and awareness of the need for anti-fibrotic lung drugs.

  5. I’m sorry someone at your knitting group was so condescending. That’s really rude, and in a place that’s supposed to be a support group (of a kind) even more rude. I wear a mask just about everywhere still too, because I don’t want to get sick with anything that I can avoid, and people are back to their usual “it’s just a cold” / “I’m not contagious” nonsense.

    I love that rainbow zebra unicorn design!

    1. I’ve been a little shocked by the emergence of more people lately who are openly commenting on my mask. Seriously?! Another incident occurred at Kaiser in the elevator when a man told me that my mask didn’t really do anything and I should refuse to wear it. I told him that only a person with a functional immune system would say something like that, and he was pretty quiet after that. 🙂 I seriously do not want to end up in the ICU on another high flow machine, and the flu or any other respiratory virus could send me there!

      I don’t know if I will go back to the knitting group as they are switching to another venue where there is a two drink minimum, and there I will be with the mask. Ugh. Awkward.

      1. I really hate how society lately allows people to be rude idiots without any (or many) repercussions. I’m sorry you had to deal with that—at Kaiser, no less. At least in health care situations people should expect masks still.

        Yeah, it sounds like that knitting group might have different interests than yours these days. That’s a shame. It can be hard to find a good knitting group.

      2. There is a large infusion center at this Kaiser facility, too. It was a shame as this is one of the few places where mask wearing is a huge issue for me since I caught the flu twice before at Kaiser.

  6. Thank you Marilyn for sharing your experience and information! I am so sorry that you had to deal with that at your knitting group – I am amazed at people who are commenting on others’ mask use. It is so rude and insensitive! So glad that you have your excellent new team of doctors and are doing better 🙂

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