The Scleroderma Chronicles: And Do You Exercise Regularly?

It has been an eventful week in big and small ways. I had been mostly in bed for most of a week as I struggled my way through two snowstorms with significant air pressure drops. Ugh. I had chest pain, coughing, heart palpitations, and more sleep than I want to admit to. Towards the middle of the week, I went off my immunosuppressant drug and the flare of my disease(s) arrived over the next two days. Ugh. So predictable, but still discouraging. I dragged myself together on Monday, double masked, and made it to the pharmacy where I had an appointment for a Covid-19 booster that afternoon.

Mateo: Do I need a booster too? Here’s my arm…

I have this really wacky sense of humor. The entire experience just kind of cracked me up. You see, I got the appointment at my local grocery store’s pharmacy. Here are some of the highlights:

  • I have had so many shots at this point that they had to use the back of my vaccine card. At this rate I will need an accordion-like pullout for the vaccine information in a few months.
    • Why so many shots? I’m immunosuppressed. I went off my drugs this time to give my immune system a better chance of responding to the vaccine.
  • The staging area for the shot was at the Fritos display across from the pharmacy. Seriously, the pharmacist said, “Go stand with the Fritos and wait your turn.”
  • The shot was easy, peasy. I think that the syringe was spring loaded it was so fast. “Go walk around the store for 10 minutes before you leave,” I was told.
  • So I waved goodbye to the Fritos and walked around the store. Mostly I just looked at the empty aisles for the 10 minutes feeling sorry for myself. No milk. No Snapple. No cat food. No guacamole. NO GUACAMOLE!!!! Oh, yeah. Genius me scheduled the booster shot during a grocery store strike by the competing chain’s employees and this store was basically stripped of essentials by the descending horde of shoppers who didn’t want to cross the picket line. As they shouldn’t. But they could have left me a little guacamole, don’t you think?
I was able to get the cats a Boston fern to replace the palm that was chomped to death by… I wonder who could have done that? Hmmm…

I also got a Starbucks. Not the worst trip out of the house. I ended up with a sore arm and was so exhausted that I slept for 12 hours.

Today, 48 hours after the booster shot, I feel great!! The flare is gone. I haven’t felt this good in weeks. This happened to me the last time I got a Covid booster. I think that it must be the increase in antibodies or something; I’m so immunosuppressed that my gamma globulins are way too low (a medical condition that my doctors are just ignoring because I do have enough white blood cells). Maybe the boost in antibodies following the shot actually makes me feel better somehow. Maybe my white cell count goes up. It’s a mystery. I’ll take the win!

And in that winning mood I went to see my cardiologist for the first time since my trip to the cath lab last fall. I was a little short of breath but was walking okay when I got to the office. I received an EKG test and the nurse checked me in:

Nurse: “And do you exercise regularly?” (in a judgmental tone of voice…)

Me: “Oh, please. Let’s not even pretend that I am able to exercise!”

Nurse: “Oh. I’m so sorry that I asked you that…” We both started laughing, but I meant it! I am so over feeling defensive about being unable to exercise. In fact, trying to exercise with my condition was damaging my heart.

I also think that I had my snark on under my mask.

Then the doctor came in!

My cardiologist is freaking awesome. He asked lots of questions about how I was doing. (Face now mostly not blue. Yay! Some panting and chest pain, but so much better. I went up a couple of flights of stairs with no problem.) We discussed the fact that I don’t fit the usual diagnostic model for pulmonary hypertension but based on physiological changes consistent with PH and my dramatic response to treatment with a PH drug, he made the call and entered the diagnosis. The matter is now settled until new data comes along.

Exercise-induced pulmonary hypertension. As in, you look perfectly normal when you are on the table getting your lung/heart tests, but the minute you exercise all hell breaks loose in the blood vessels of your lungs. Fabulous. There is a really invasive testing protocol that I could be subjected to, but there is enough evidence now to establish the diagnosis without it. The diagnosis became part of my medical record today. At last.

It has been a long time coming!!

It has been almost exactly 5 years since the BLZ began her journey to find help and answers. This has been really, really hard, but I made it.

We discussed the pros/cons of more testing. We talked about the risks and benefits of adding a second drug to the one I’m already on. We talked about who will take over management of my PH (he will) and how he will integrate with my rheumatologist. We talked about how important it is to be comfortable with “out of the box” thinking when dealing with a patient who is basically at the far end of the bell curve… in other words, a zebra. Oh, I like this guy!!

I agreed to start the additional medication which will be added to the one that I’m already taking. There will be more side effects as this second drug kicks in and I will be getting several phone calls to check on me as I start it. The plan is to try to slow down my progression before I develop full blown PH.

Next up: more testing to hunt for that dang hole in my heart. It’s like a snipe hunt, but so much less fun. As in, heart surgery anyone?

Hannah: Don’t worry mom: you’re got this!

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.

The Scleroderma Chronicles: A Trip to the Cath Lab

The BLZ has been waiting a long time for this…

Five years ago I came down with the flu and ended up in Urgent Care struggling to breathe. I scored some antibiotics, steroids, and cough medicine. To fight the virus I was told to go off my immunosuppressant drugs for a few weeks until I got better, stay in bed, and load up on chicken soup: it took a couple of months but eventually I got back on my meds. Except… things weren’t quite right. I panted for air every time I came up the stairs and I noticed that my lips were turning blue. My blood pressure was too low and I had to stop taking my hypertension medicine. I felt dizzy and light headed sometimes.

I was a newly diagnosed systemic sclerosis patient and my doctors began running tests to see if my disease was impacting my lungs. Nope. Not my lungs. Tests were run to see if scleroderma was attacking my heart. Nope: my heart seemed to be normal. There were some anomalies, but my doctors decided to just monitor me through routine testing and see if things changed down the road. My red blood cell counts were way too high, and I had nocturnal hypoxia, so I was started on overnight oxygen. I was tested for various conditions that could account for the weird test results, but I always had a normal result.

I struggled on, battling for more testing, as my doctors kept reassuring me that I was okay. Hey, I had a blue face and panted for air when I climbed stairs; vacuuming could put me on the floor. How could this be “normal”? Ugh. Welcome to scleroderma, I thought.

I began to think of myself as the Blue-Lipped Zebra (BLZ). If I didn’t have a rare disease confusing the issue I would be getting better health care, it seemed. If doctors didn’t tend to apply most-common-cause thinking to my condition they might get to the bottom of things faster. It was, in my mind, a huge complicated mess as my doctors applied best practice (and rigid) diagnostic parameters to my symptoms or zeroed in on specific complications of my scleroderma and ignored other possible (and to be fair, rare) causes for my symptoms. I worried that my doctors had just parked me in a holding pattern as I slowly got worse; it is hard to advocate for yourself when you are sick and dependent on your doctors for help, even if you think that they are dismissive and borderline disparaging.

I struggled on as my face became more blue, my red blood cell count higher, my panting for air more common, and the occasional near-fainting event left me collapsed on the floor. I began to ask for a right heart catherization procedure to directly measure the pressure in the right side of my heart. “Oh. You don’t want that,” I was told. “That is really invasive testing.” Umm… I think I do, I would reply. Nope. Nope, nope, nope!! “Not even on the table,” one pulmonologist said.

During lockdown last year I got much worse; ironically lockdown also gave me the opportunity to reboot, fire my old doctors and acquire new ones. My new team of doctors this spring ordered up testing that showed definite issues with my heart and lungs. I am now a heart failure patient (the wall of my left ventricle are too stiff and scarred to beat well) and there were concerning findings that suggested that I had developed pulmonary arterial hypertension (PAH): there are areas of cell death in my lungs and my pulmonary artery is too big. There is too much fluid around my heart, a suggestion of ongoing inflammation. I have a hole in my heart between the atriums (a cardiac shunt) that is impacting blood flow. I was gently prepared for the PAH diagnosis, assured that there were great drugs that could help me, and a right heart catherization was ordered by my new cardiologist.

Yay!! About time!!!

Finally, after 5 years of struggle, I was yesterday wheeled into a procedure room to a waiting team of specialists who hooked me up to equipment and took me though testing to get a better look at my heart: I learned in recovery that this team calls themselves “the pit crew”, and that is exactly what it was like. Within 5 minutes I had completed a breathing test, was on oxygen, wired up to a heart monitor, hooked up to an IV, medicated, prepared with surgical drapes, and swathed in warm blankets with a heater by my feet. There was music playing and the crew was cracking jokes as they darted in and out from the table getting me ready. I was knocked out for the echocardiogram imaging of the back of my heart that was done using a probe in my esophagus, but they woke me up for the main event: the right heart catherization. My cardiologist inserted a probe into the carotid vein in my neck and threaded it into my heart by way of the superior vena cava (blue side of the heart diagram above). People, this was the most amazing experience ever! There was a huge screen showing the progress of the probe and I could watch and ask questions as the line snaked through my heart; there was absolutely no pain. “Well, this is interesting,” said my cardiologist at one point, and there were more measurements happening and a flurry of new activity from the team. The BLZ felt a surge of elation: they had found something, and it was NOT what they expected.

Back in recovery my cardiologist caught up with me again. I had done great, he said, and he just beamed as he told me that I absolutely did not have PAH. This is great news, he assured me, great news!! There is another circulation problem in the lower part of my heart, between the ventricles. There is blood coming in from the left side of my heart and mixing with the blood on the right, disrupting the flow through the heart and robbing me of oxygen to my body. I have a second, more serious, cardiac shunt, and now it is a question of locating that pesky little guy and doing something to fix the problem.

It has been FIVE YEARS, people. If I hadn’t had my trip into the cath lab yesterday my doctors would still be nagging me to get more exercise (the BLZ just barks in laughter), offering me antidepressants, or insisting that I must have sleep apnea. I feel so validated!

My cardiologist is now going over my previous imaging to find the hole now that he knows what to look for. I was told that I may need to go through more testing to definitively characterize the opening, but this is huge forward progress. I suspect that I am facing open heart surgery down the road, but I am elated that the progressive and eventually fatal diagnosis of PAH is now off the table. Things are looking up since my heart failure will now be much easier to treat.

I am reminded of Elizabeth Zimmerman’s admonishment: “Knit on with confidence and hope, through all crisis.” Also, when the going gets tough, get a kitten!

Today I am waiting to hear back from my cardiologist who is going to email me with follow up instructions after he has finished going through the data and past test results. I’m on oxygen, knitting, and feeling pretty calm about all the new developments.

Almost exactly 7 years ago (August 28th was the anniversary day) I was diagnosed with Limited Systemic Sclerosis and Sjogren’s Disease. I have learned a lot along the way, but the best, most important lessons have been about self-advocacy, facing down the worst case scenarios, communicating with your doctors, and maintaining a good attitude.

Yesterday this all paid off for me big time.

Note: The fabulous BLZ graphic was made for me by my exceptionally knitworthy niece Melissa and her beautiful and talented daughter Eleanor.