The Scleroderma Chronicles: The Blue-Lipped Zebra Gets a Credible Hypothesis

At last.

If you have forgotten about the tales of the Blue-Lipped Zebra, that’s what I’ve taken to calling myself as I struggled over the last few years for some definitive answers to my blue-lipped shortness-of-breath issues. Really, things got pretty darn extreme late in 2019 and I started to get really pushy in finding some answers. Here’s the posts that I wrote then: The Blue-Lipped Zebra Report, The Blue-Lipped Zebra Gets Some MRIs, and The Blue-Lipped Zebra Goes on Oxygen.

Hannah: All of that happened before I came to take care of the Kitten Mom.

To summarize all of the adventures of the BLZ (that is code for Blue-Lipped Zebra), about 5 years ago I caught the flu and was really sick. I never fully recovered as shortness of breath lingered and lingered, and eventually I noticed that my lips turned blue after showers and when I climbed the stairs. I steadily worsened and began to call (and call, and call…) my rheumatologist for help. He ordered up some testing and referred me to a pulmonologist. My echocardiogram and lung CT scan looked good, but my pulmonary function test showed some asthma. My pulmonologist decided to that I must have asthma because of my Sjogren’s Disease, and maybe… (cue the dramatic music)

Sleep Apnea

so I got tested for that. That test showed that I had nocturnal hypoxemia (like, I was under 90% saturated blood oxygen for over an hour) so I was started on overnight oxygen. All my doctors dusted off their hands, said “Job done!” and that was that. As far as they were concerned the BLZ had been put out to pasture.

My symptoms improved and after 6 months I was taken off the oxygen again.

Over the next two years my symptoms came back and got steadily worse. To further complicate things my systemic sclerosis and Sjogren’s symptoms also worsened. I was constantly fighting a flare of my autoimmune diseases (joint and muscle pain, fatigue, brain fog, hair loss, GI nastiness) at the same time I struggled to walk without stopping to put my head between my knees because I felt faint. I ended up on the floor more than once. I panted like a freight train when going up stairs and now my entire lower face was looking blue at times. I coughed up mucus every morning and it sometimes contained streaks of blood. The BLZ was back and running wild. My rheumatologist ordered tests; once again my heart and lung tests looked good. Disgusted with my complaining, my rheumatologist decided that maybe I should be prescribed antidepressants, or maybe I should be tested for… (cue the dramatic music)

Sleep Apnea

I fired that doctor and found another. I met with my internist, who ordered more testing, and I had a first appointment with the new rheumatologist who had been recommended to me by the local chapter of the Scleroderma Foundation. The new tests showed that I had severe inflammation of my tendons, a destroyed hip joint, a condition called polycythemia (too many red blood cells), and nocturnal hypoxemia again. I was put back onto oxygen and the pandemic then closed everything down. I asked about the possible cause of my polycythemia, but there wasn’t anything that really jumped out to my doctors. The BLZ was ordered into strict isolation for the duration of the Covid-19 emergency.

Now I am fully vaccinated and back into the world and pushing my way though new testing and have acquired a couple of new doctors after ending up in urgent care with chest pain, a blue face, and shortness of breath. The testing early this year showed that I had more fluid around my heart and that the pressure on the right side up my heart was up into borderline high range. Because of my systemic sclerosis I am high risk for a condition called pulmonary arterial hypertension so that high pressure reading triggered an alarm: I was sent to a cardiologist.

The cardiologist was completely dismissive of the two clinical observations that had generated the cardiology referral, was borderline disparaging of my anxiousness about my not-yet-vaccinated status (there are other people who are sicker…), lectured me about getting cardio in three times a week, and insisted that I be tested for… (you know the drill: dramatic music time)

Sleep Apnea

“At least you didn’t offer me antidepressants,” I said. I limped away, fighting tears and panting for air, wondering why I have to keep firing doctors and hunting for new ones. “Suck it up, Buttercup,” said the BLZ as I drove home. “You have a new pulmonologist to talk about this with.”

There I am, waiting for the pulmonologist, minutes before he gave me the unifying diagnostic hypothesis.

Three weeks ago I met with the new pulmonologist, one that was recommended by my new (wonderful) rheumatologist. He asked me lots of questions, dismissed the notion that I have sleep apnea (“What a shock!” snarked the BLZ), and then dropped the bomb. I have a cardiac shunt. Blood from the right, unoxygenated side of my heart, is passing through a hole in my heart and disrupting the flow of oxygenated blood to my body. He ordered a new echocardiogram with bubbles to look for the hole and to confirm the diagnosis. He also wants to check how much fluid is around my heart and is concerned about the right side pressure levels, which were the two reasons why I was sent to that cardiologist (that the BLZ wants to kick in the face…) in the first place.

Hannah: The new echocardiogram is in three more weeks. The Kitten Mom is getting a little anxious while she waits…

As the pulmonologist walked me to the door out of the clinic that day he casually said to me, “I really admire your attitude.”

Oh, oh.

The BLZ’s whiskers started to tingle.

You know I googled for information about cardiac shunts from the parking garage before I even drove away from the appointment. Almost immediately the condition that he suspects appeared on the page: Eisenmenger syndrome. I have every single one of the symptoms that are listed on the page. This is the unifying diagnosis, if the echocardiogram confirms it, that explains the blue face, shortness of breath, nocturnal hypoxemia, polycythemia, and the inflammation that has been driving my two autoimmune diseases, systemic sclerosis and Sjogren’s disease out of control.

Why did it take so long to get here?

Eisenmenger is rare.

The BLZ is barking with laughter.

Me, I’m working on my attitude as I wait for the echocardiogram appointment.

New Chinese Curse: May You Have An Interesting Disease

It has been two months since I started the drug methotrexate for my systemic sclerosis (scleroderma). I put off starting the drug for a few months as I was concerned about potential side effects (well, for one thing, it increases the chance that I will develop cancer. Since I’m now at high risk for lymphoma that kind of gave me some pause…), but struggling with fatigue and other annoying symptoms I finally made the call to my rheumatologist and started on the drug.

The first month was a little hard; nausea, headache, more fatigue, and what I called the dizzy-wobblies. My hair started falling out. By the second month, however, I began to notice that my muscles had stopped hurting. I had more energy. The edema in extremities was definitely much better. I was out of the house and doing much more. Hey, this is improvement. Go methotrexate! I was ready to make the pom-poms and sign up for the cheer squad.

Then more downsides began to emerge in the second month. I started to notice that my knees really hurt the day after I took the methotrexate pills. As always, I checked the Internet to see if anyone else had noticed this. Yep. It’s a thing.  I decided to baby my knees a couple days a week and to keep on with the drug. Then my back started to hurt, I noticed a rash on my arms the same day that my knees hurt, and itching became a thing. My ribs started up with shooting pains. The pain spread to the entire right side of my lower ribs, I struggled to breathe and it was hard to raise my arm. Yikes!! The pain was so widespread it didn’t seem reasonable that it was just a cracked rib…

IV in arm.
Here I am with the IV tapped off so I could make the trip to the CAT Scan machine.

That’s how I ended up at the acute diagnostic center run by Kaiser for we after-hours folk that don’t want to go to the ER. (The ER has sick people. When you are on immuno-suppressants you avoid sick people like the plague!) The nurse was nice. The doctor was great. The words “possible blood clot in your lung” and “we want a CAT scan right away” were said. I would have been more upset if they hadn’t also just said “we’re giving you morphine to get this pain under control”. I would have hugged that nurse if I could lift my arm.

Then she blew it. As she stuck me with the needle to start the IV she said, “I once worked with someone who had scleroderma so I’ve heard of it before. Such an interesting disease. She did develop heart problems though, which was sad since she was so young.” Great. This is sort of like a Chinese curse: May you have an interesting disease. I grumped about her comment to my son who was there with me. “Well, you have to admit, it is kind of interesting,” he said.

Aside: It is an interesting disease. One of the great ironies of my life is that I have a degree in molecular biology and once worked in a rheumatology research lab on a scleroderma project. My boss Dr. Angeline Douvas and I at that time used the auto-antibodies from scleroderma patients to capture and identify the protein SCL-70 (topoisomerase). We spent a lot of time speculating about what was going on in these patient’s genes and why that was manifesting itself the way it was in their clinical symptoms. We were suspicious that it might be triggered by a virus. Here’s the paper: I’m the second author. Angie would find my diagnosis to be so interesting but she passed away in 2000 before I became sick. Yep, it is all so interesting. Anti-centromere antibodies! What the heck is going on here?! This is an important disease that should be researched not just for a cure to help people who have it, but to also gain essential understandings about cells and genes that can be used in the treatment of many other diseases. As it turns out there is a bill in congress right now concerning scleroderma and fibrosis research and you can contact your congressperson using this link.

Still, I found the nurse’s interested detachment from my personal situation to be somewhat appalling. Still in pain I was wheeled off for the CAT scan, and then waited for my chat with the doctor. NOT a blood clot. NOT my liver. They could see old breaks in my ribs (thank you osteopenia) but NOT a current one. It turned out that it was inflammation of the cartilage in my ribcage, a condition called costochondritis. It’s a scleroderma thing, just another bump in the road when you are dealing with a complex medical condition. Fabulous. The Internet tells me that it usually resolves within a year. OMG! A year??!!! That’s a lot of pain killers! Oh wait; that’s a lot of knitting! Best to look on the bright side.

The next morning my rheumatologist’s office called to let me know I should stop taking the methotrexate. Farewell, methotrexate. It was nice getting to know you but you didn’t play nice with my cartilage. I now have an appointment with my rheumatologist on the 20th and he will discuss my new drug options with me then. I’m sad to let methotrexate go, but so glad that there are other drugs out there waiting for me to try them out.

Just another day in the life of an interesting disease.

February 28: Rare Disease Day

rare disease day
Logo courtesy of Rare Disease Day. To find out more information about this event visit http://www.rarediseaseday.org/

I got a newsletter in my email box yesterday that let me know that this special day was upon us. Wow. A day just for me and the other people who have to explain their medical status to friends, family, and medical providers such as the dentist. Wait, it isn’t for me? It’s for my disease? Since systemic sclerosis is an orphan disease that no one has heard about this day is set aside to introduce it to everyone. Isn’t that special! Ta-da! Everyone, please meet scleroderma!

What is a rare disease you ask? Well, that is a good question, isn’t it? Off to the internet I went to find the answer.

In a nutshell a rare disease is one that affects very few people. Most of these are genetic, or at least have a genetic component, but there are some others such as the autoimmune disease that I have that also fall into the category. According to the Rare Diseases Act of 2002 a rare disease is defined as one that affects less than 200,000 people in the United States. Since the Scleroderma Foundation estimates that 100,000 people in the US have systemic sclerosis it meets that criteria. Oh, I guess that’s why they sent me that information in the email.

I’ve been kind of thinking about what this means in practical terms. If I tell someone that I have scleroderma (thinking that I have a better chance that they might know something about it since the systemic sclerosis that I have is a subtype of scleroderma), they get a blank look on their face and say that they’ve never heard of it. The next thing that happens is understandable, and very human, but also unfortunate: they immediately assume that the illness isn’t very important since they never heard of it. The conversation moves right on to something more understandable.

My hairdresser told me a story last month that haunted me for days. Her step-daughter had a number of autoimmune conditions that included fibromyalgia, IBD, and something that affected her joints. She had extreme fatigue. She kept trying to talk to her father about what was happening to her, and how fearful she was, but he discouraged conversation as he thought she was “milking the situation for attention.” She died at Thanksgiving, and he is being eaten with remorse. What a mess. Her condition was mostly invisible to an outside viewer, and since he didn’t know anyone else with it, he incorrectly disregarded the impact it was having on her.

Depression and a feeling of isolation is a big issue with rare diseases. Most of them are chronic, they can be progressive, and there is no cure. Once the diagnosis is made the patient begins living an unpredictable life with an uncertain future. Without a strong support system it is hard to deal with this stuff on a day-to-day basis.

There are a lot of rare diseases, (this site has a database if you are interested), so no one can be expected to know a great deal about any one of them in particular. If you should encounter someone who has one, however, it would be nice to ask them some questions and then to really, really listen to their responses. What is it? How are they coping? And if this is a good friend or a family member, what can I do to help?

To all my peeps with chronic conditions (hey, lupus girls, I am talking to you!!), knitting friends and those of you afflicted happily with bibliophilia, I have one thing to say:

Happy Rare Disease Day everyone!