The Scleroderma Chronicles: Rare Disease Day, 2022

Well, this is a hard topic to write about. Quite frankly, I have been getting my butt kicked lately by my (wait for it) rare diseases. Still, I am trying to respond to the calls for publicity about rare diseases along with other members of the scleroderma and pulmonary hypertension communities.

You know, I feel like I should represent.

People with rare diseases are referred to as “zebras” in the medical community.

So, what’s a rare disease? A rare disease is classified as one that impacts a small percentage of the total population. Here in the United States that means fewer than 200,000 people diagnosed with the condition/disease. Perversely, there are a lot of people with rare diseases as there are almost 7,000 different rare diseases!  Some of these diseases are common enough that you may be familiar with them: albinism, achondroplasia (a type of dwarfism), and autoimmune hepatitis are examples. Others are very rare. Most are genetic in origin, and half of them impact children. More than 90% of rare conditions have no drug treatment.

The type of scleroderma that I have, limited systemic sclerosis, is considered rare as there are about 100,000 people in the US with this diagnosis. The latest diagnosis added to my medical history is of pulmonary arterial hypertension, another rare disease, and one that is a consequence of my scleroderma. Well, I am really rare now! I have struggled to explain my scleroderma to people when they ask; how can I explain in just a few sentences something that is just frankly causing horrific damage to my body and generating an ever-growing list of diagnosed conditions. Here’s my best answer at the moment:

Scleroderma is a chronic, progressive, uncurable, and often fatal autoimmune disease that causes scaring and damage to blood vessels, skin, internal organs, and muscles/joints. It is controlled and treated through the use of immunosuppressants and drugs that address symptoms. It is a life-altering diagnosis. It is my life.

So, I have blogged about Rare Disease Day several times in the past. Here’s what I wrote a couple of years ago, and what I wrote in 2018. In the past I have written about my symptoms and the struggle of living with a rare disease. It is pretty isolating. It is hard to get diagnosed and treated. I have also written about the difficulties to get funding for research for rare diseases and conditions, and the lack of treatments and cures because the patient population is so small.

This year I thought I would share some of the things that doctors have said to me since my scleroderma diagnosis. I’ve tried to organize these into chronological order to better reflect my journey.

  • My internist: It’s good to have a diagnosis, even if it is a shame.
  • My rheumatologist when I asked him what my life would be like in 5 years: Let me run some more tests, and then we can talk.
  • My ophthalmologist: Do you have a will?
  • The physician at the regional acute diagnostic center: This is a diagnosis like cancer. Of course, some cancers can be cured.
  • A physician speaker at a scleroderma support group presentation: this drug [the immunosuppressant that I take] can really give you a chance, as long as you don’t contract an infection.
  • My old rheumatologist: All you do is complain. Maybe I should order a sleep apnea test or prescribe antidepressants.
  • My internist, as I begged for an anti-inflammatory drug: I’m sorry. There isn’t anything that I can give you that won’t hurt your kidneys.
  • My dermatologist, as she prescribed an anti-inflammatory topical gel: This is unacceptable, and I am putting a stop to it now.
  • My new rheumatologist as she orders more testing on my painful joints: Why has no one followed up on this?
  • My rheumatologist two days later: You need to get a steroid injection in your hip joint as soon as possible.
  • The hip specialist: There is nothing more that I can do for you because your scleroderma is attacking all of your tendons and ligaments. You need a hip replacement, but it will fail.
  • The physician at urgent care: I don’t think they understood how complicated your medical status is when you were referred here. You need to be hospitalized because we can’t do the testing that you need here.
  • My pulmonologist as he walked me back to the waiting room: I really admire your attitude.
  • My cardiologist as I was being sedated for a right heart cath: Don’t worry. I’ll take good care of you.
  • My cardiologist as he started me on medication for pulmonary arterial hypertension: This is challenging, and we will need to be comfortable with “out of the box” thinking.
  • My rheumatologist last week, referring to herself, the cardiologist and the pulmonologist: We are your team!
  • My rheumatologist, also last week: We need to add a gastroenterologist to the team.

You can see how rocky the start was. There is a lesson here, I think. To be rare, to be a zebra in a medical community that is designed to identify the most likely cause of symptoms in a herd of horses, is hard. It is really challenging to secure the care that you need when, no matter how hard doctors try, you do not respond to the usual treatments, and you never fit the usual profile. It is easy to be seen as a problem. It is hard to keep insisting that there is something wrong when all the test results say you are okay.

Even when you are blue-lipped and panting it can be hard to convince doctors that there is a problem.

And yet, it is possible to get there. Over time, with great determination and persistence, I have A TEAM of doctors who view themselves as active collaborators in my care. They message each other to discuss test results and possible drug interactions, and they loop me into their discussions. It is only now, newly diagnosed with a terminal condition, that I feel confident and hopeful about my care.

Today I went in for a blood draw and a little jaunt through the local bookstore. The sun was shining, I bought a Starbucks coffee, and it was a good day.


My scleroderma-related diagnoses:

  • GI tract: difficulty swallowing, hiatal hernia, GERD, gastroparesis, chronic gastritis.
  • Kidney: stage 3 chronic kidney disease.
  • Lungs: pulmonary arterial hypertension, interstitial lung disease, asthma, partial lung collapse.
  • Heart and circulatory system: grade 2 diastolic dysfunction (a type of heart failure), Raynaud’s phenomenon, telangiectasia.
  • Muscle/Skeletal: fibromyalgia and severe joint damage.

This is scleroderma. I’m a zebra, and these are my stripes.

Happy Rare Disease Day, everyone!

The colors associated with my diseases are teal (scleroderma), purple (Sjogren’s), and periwinkle (PAH). It sounds like the start of a great sweater, huh. 🙂

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.

22 thoughts on “The Scleroderma Chronicles: Rare Disease Day, 2022”

      1. Damn fine ! It gives me pleasure to read your so well-informed posts because you don’t whinge. Seems it’s we healtheir ones who have nothing like your medical problems who do the whingeing. :\

      2. I try to not blog when I’m in a bad way for obvious reasons. 🙂 I is a little bit of a struggle to never call other people out when they complain about things like, say, a sore finger. I mean, things like that can be really, really annoying. Okay, I did unload on someone who called me up all upset about a broken tooth! Seriously! I told him to put on his big boy pants and deal with it!! 🙂

  1. I like the sound of your team. Especially how often they say “we”. I also like your attitude. It’s so good that you never gave up the hunt for the proper diagnoses and treatment. You really are inspiring in your taking charge of your own health; we all need to do this but sometimes it’s discouraging, and still you persevered.

    1. Well, to be honest it took me almost 5 years to get a great team of doctors assembled and a diagnosis. I was completely beat down at first by the initial diagnosis and how I was being treated by my doctors. It is hard to confront things head on, but I do feel like I’m getting there.
      Attitude is all!!

  2. It is so important to have a team. I’m glad it sounds like yours is working for you! (Now, anyway…) And yes, purple, teal, and periwinkle sounds like a great color combination for a sweater or a shawl.

    1. I just love the team! I can now email one doctor about an issue and when I get the reply he/she might mention that they had talked to another doctor on the team and they agreed on what I should do. So fabulous!!

  3. The not being heard and not being diagnosed fully and not knowing is hopefully a thing of the past and now you know what you face it and can do so in your inspirational way with the support of your new and improved team of doctors.

    1. The first doctor really nailed it… it is good to have a diagnosis, even if it is a shame. It is just horrible to feel that no one is listening to you. It is so much better to know the truth, no matter how hard it is to face down.
      The new docs are great! I actually heard from two of them today. 🙂

  4. Well I’ve heard of scleroderma and I’m not even a doctor, I don’t really understand how they couldn’t figure it out for so long for crying out loud. I’m glad you have a great team and I don’t know how you do it, keep hanging in there. Prayers

    1. The scleroderma diagnosis was 7 years ago, but to be truthful that took quite a while, too. My main problems have been tons of inflammation (but the blood tests for inflammation markers are normal), shortness of breath with blue lips (but all the tests they did were normal…), and extreme fatigue. It is hard to insist that if the tests don’t show any problems, it is time to get new tests, because my symptoms are real! Even now my pulmonary hypertension diagnosis is based on my dramatic response to drugs as the type I have (exercise-induced) is extremely rare, is specific to systemic sclerosis, and doesn’t show up on the gold standard test for pulmonary hypertension (the right heart catherization). This has really been a slog but I got there.

      1. Yes the problem is most don’t think out of the box, always rely on tests and markers, I certainly understand that because of post-Covid crap. And normal inflammation markers, boy I hear you on that one. I’m just sorry you had to go thru such an ordeal, while going thru such an ordeal already!!

      2. It is truly shocking how many people (not just doctors) rely on routines and generalizations in their work. I am so okay with out of the box thinking!

  5. Marilyn, you are a true inspiration. I am so sorry that it has been such a long and difficult road for you getting to this place where things are looking a bit brighter. Sending you good thoughts and prayers that things keep improving for you!

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