The Scleroderma Chronicles: The Blue-Lipped Zebra Gets Her Diagnosis!

At last. I mean, this has been going on for more than 5 years and had reached the point of utter absurdity. If you haven’t been keeping up on all of this, I have been struggling with shortness of breath and sporting blue lips for way too long. I also have pretty significant fatigue, chest pain, and major muscle and joint pain. I’m a mess.

I have a rare autoimmune disease called limited system sclerosis(scleroderma) which makes me high risk for lung and heart issues. People with rare diseases are called “zebras” in the medical community; since I’m sporting blue lips I’m the Blue-Lipped Zebra (BLZ). Got that?

My doctors do routine testing to monitor me for heart and lung conditions associated with systemic sclerosis; each time I had an echocardiogram and a high resolution CT scan the results were that I was… fine. No indications of a major problem.

But I was absolutely, positively not fine. I began to refer to the reassurances that all was okay as medical gaslighting. I transferred to new doctors. I got copies of all my test results, did lots of google searches, read research papers and articles in medical journals, and began to have evidence-based discussions with my doctors. They ordered up more aggressive testing of my heart and lungs. I posted about the my right heart catherization and CPET here if you want to catch up.

Last Monday my cardiologist called and gave me the final diagnosis. I have a type of pulmonary hypertension that is exercise-induced that is being complicated by a cardiac shunt in my heart. At rest, for all those previous echocardiograms and CT scans, everything was fine. When I’m in motion it is another story.

So, what exactly is pulmonary hypertension and why am I, as a systemic sclerosis patient, at high risk for it? In the most simple terms, the interiors of my lung arteries are narrowing due to scleroderma scarring and tissue growth; as the openings get smaller, the pressure of blood flowing through the arteries gets higher.

When we exercise the body needs more oxygen delivered to tissues; arteries constrict to raise blood pressure, your heart speeds up and your respiration rate increases. In my case, that constriction of arteries in my lungs makes the blood pressure in the lungs increase too much; blood struggles to get through the pulmonary arteries, and the downstream pressure in my right heart forces blood to flow from the right side, through the shunt, and into the left. My body’s blood pressure zooms up as the left side of the heart fights to push blood out of the heart past the jet of blood coming in from the right side through that dang hole. It’s a catastrophic cascade that happens in seconds, and the entire phenomenon is being driven by my systemic sclerosis created pulmonary hypertension. “You’re a challenging patient,” my cardiologist told me as we talked about my future treatment. Yep. That’s me. A challenge. I excel at challenges.

Last week the new medication that my cardiologist prescribed was shipped overnight express to me by Kaiser’s National Specialty Pharmacy. Kind of unusual, right? That’s because pulmonary hypertension is rare, so there aren’t that many people taking this drug in the US. If I was a Blue-Lipped Zebra before, I am now a BLZ wearing a crown. A periwinkle crown, of course, for pulmonary hypertension.

Hannah: I should have a crown!!

When I started this scleroderma journey one of my doctors told me that it was good to have a diagnosis, even if it was a shame. This is true. I’ve learned a lot since my first blood tests came back hinting at an auto-immune disease that generated a referral to a rheumatologist.

I’ve learned to be patient. I’ve learned to advocate for myself. I’ve learned to take the initiative to learn about my disease and to become an active participant in my treatment plan. I’ve learned to face down the monster and to go on with my life.

Challenge accepted!

This is Pulmonary Hypertension Awareness month. About 15% of systemic sclerosis patients develop pulmonary hypertension as a consequence of their disease. You can learn more about pulmonary hypertension here.

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.

33 thoughts on “The Scleroderma Chronicles: The Blue-Lipped Zebra Gets Her Diagnosis!”

  1. I “like” your post because it contains all the right stuff – willingness to accept the challenge, continuing positive outlook and always humour at the centre.
    You’re a lesson to us all, Marilyn: you go, girl !!

  2. I am so glad you got your diagnosis and some new medication for it. I so hope it works and helps you! Good for you advocating for yourself and persisting until you found the doctors who could and would help you!

    1. It has really been a slog to get here, but I finally have been diagnosed and treatment has begun. Pulmonary hypertension is progressive so it is important to get onto drugs as soon as possible; thank heavens I finally got to the right doctors and we got there. 🙂 I do feel better this week.

    1. No, this treats the problem by addressing blood flow. The drug that I am on (tadalafil) prevents my blood vessels from constricting so they are wide open all the time. So far it seems to be doing the job for me as I haven’t been panting at all. Yay!!

  3. Hi BLZ:
    Congrats on finally getting a diagnosis!
    Coincidentally, I just had the same diagnosis this week and have started the same medicine. You’re right in that it takes forever to find out what’s wrong.
    Love the cats and that shawl you made was beautiful.
    Keep on knitting. Thanks so much for being there. It’s great support for all of us going through the same issues.

    1. I’m sorry to hear that you also have a PH diagnosis, but I’m so glad that you have found me! What a struggle it is to get diagnosed, huh. I hope you’re doing okay. When I first realized that it was PH I was pretty crushed, but ironically by the time I finally got the diagnosis it was a huge relief. I’m a week into the med now (tadalafil) and while the first day was pretty rocky (my BP fell to 99/50 and I couldn’t stand) I’m doing much better. My cardiologist wants to take me up to 2 doses a day so that will be next week’s adventure. Hugs to you!

      Thank you for your comment. It’s great support to me to know that I’m not the only one doing this right now. 🙂
      Thank you for the kind compliments. The weather is much cooler this week and I’m finally getting to wear a coat and totally rocked that shawl when I went out on an appointment Monday.

      1. I am so happy to hear that you have an honest to goodness diagnosis, and that your breathing has improved with the right drug. I’ve learned that you have to advocate for yourself. Doctors often have huge egos and a personal agenda to boot. You are a fighter and a survivor. Rock on!

      2. Thank you! I have discovered to my dismay that some doctors (and not only doctors, let’s be honest here) expect you to just accept what they tell you without question like a child. If you ask for explanations or question anything it gets a little ugly fast. All of my new doctors are on the younger side and they absolutely are comfortable discussing options with me and having an actual conversation. Because I asked for recommendations I now have a team that all know each other and have good opinions and a history of positive interactions. Win!!

  4. I’m very proud of you for advocating for yourself and solving your mystery! It’s so good when one finally knows what is wrong. I hope your meds start really making you feel better soon and help prevent progression.

    1. That is the plan. Actually, I do feel a lot better already and hopefully the improvement will continue as my dose goes up after the next week or so. I have some heart damage that may improve as the pressure comes under control and I am so committed to slowing down the progression of the PH. It was such a slog to get the diagnosis and treatment started and it makes me wonder how many other people just fall through the cracks. It’s a sad thought.

  5. I’m so glad you have finally gotten a diagnosis and appropriate medicine. There are a lot of sucky doctors out there but thank goodness you found a good one. I hope you’re feeling better with the new med.

    1. I’m doing better over all . My breathing issues are hugely improved; to compensate my joints are hurting more. I figure that it will take time for everything to settle down again with the new drug.

  6. Yooo, this is the first article/blog/anything I have found the combines the blue lips and an autoimmune condition. Thank you for writing it!
    I am in the beginning stages of the saga of working with a rheumatologist for some sx ongoing for a couple years now. Recently, a big increase in sx, including joint pain, shortness of breath, and BLUE LIPS. Almost all my tests come back normal and have been for the past two years. Direction to any resources or articles or suggestions would be so welcome!

    1. Oh, no. I totally feel your pain and frustration! I did google searches for blue lips so many times hunting for answers and to be honest there are a lot of conditions that can cause the symptoms you describe. My response to doctors who told me that all the testing was normal was that we needed more tests, obviously!! Anything that messes with oxygen transport can cause blue lips, so do some searches on sleep apnea, pulmonary hypertension, interstitial lung disease, polycythemia: don’t get scared, just poke around to see if anything brings up a red flag for you. Even Raynaud’s can cause blue lips if you are struggling with that, but since you have shortness of breath, I’m guessing that it is something bigger. If you realize that you have a battery of symptoms that point at a specific condition you can bring it up with your rheumatologist/PCP. It took me a long time to get diagnosed and helped, but here is some generalized advice. I switched to an internist as my PCP and she has been a huge help to me as we meet every few months so she can read all of my test results from other doctors, talk to me about the “big picture” and then order testing/treatment to plug any gaps. She has made diagnoses that the other doctors waffled on and secured me resources that I needed. I now read the complete text of all my tests and then email my doctors if I have any questions; my doctors now include the complete text of test results in their online notes that I can access. This helps so much as you can mention test results to them while in their office instead of just saying “I feel so bad”. Has your rheumatologist done a complete rheumatology panel? I was diagnosed with scleroderma and Sjogren’s after this huge panel with 22 tests (14 vials of blood)? The diagnosis helped me with searches on the whole shortness of breath deal. Once you get an autoimmune diagnosis you can contact the relevant support groups to find a doctor that specializes in that disease (I contacted the local chapter of the Scleroderma Foundation). I ask people who do the testing about the doctors – I got my wonderful pulmonologist when I asked the lady doing my pulmonary function test who would be a good doctor for pulmonary hypertension (I wasn’t diagnosed yet, but my online searches had made me suspicious) and she not only gave me two names, but also made the appointment for me right while I was there! Hugs. I’m sorry that you are dealing with this, but I hope that some of this helps.

      1. Thank you!! It gives me lots to think on and learn from! I will be back poking around here again, I would guess.
        I am still fairly new to the autoimmune game, so no dx yet, but lots of tests and a medication I am trialing, as well as another referral into an internal med specialist. I think the biggest thing I pulled from your response is to be more involved in my own care. Thank you again for taking the time! xo

      2. Yes, be as involved in your own care as you can. I was just in the hospital a couple of weeks ago and one of the staff there told me that she had read my doctors’ notes and was envious of the collaborative partnership that they had and how I was included in it. It built up over time once I became better informed and involved. Hugs to you!

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