Ugh. I’m still struggling with the heat and I’m STILL in a flare. I spent another couple days in bed, talked to my rheumatologist, and really didn’t get too much done. The nightly news is just awful (seriously, how much worse can 2020 get? Don’t ask!), Hannah has decided that all of the best toys are KNITTED, Covid-19 cases are surging in my state, and my doctor has re-emphasized that I am totally on lockdown. No visitors. None. Well, if they stay outside, keep their mask on, and stay 10 feet away maybe one of my sons can come… Sigh. My joints are not getting better, and it is still too risky for a joint injection. I have to admit to some sadness here… what good are doctors if they can’t just wave a magic wand to make you feel better??! There was, however, some good news this week.
My governor has ordered everyone to wear masks in this state. At last!! I went to the grocery store late this evening (which I am not supposed to do, but the kitten needed more food, and I absolutely needed cheesecake…), and every single person in the store had a mask on. People made obvious efforts to give each other space. Thank you, thank you, thank you, everyone!! Don’t tell my doctor you saw me, okay, and thank you so much for being kind to me.
Also, the store had some cute orchid plants for sale, but more about that later.
I started out the week working on my Breath and Hope shawl, but as the heat outside built and my flare intensified, I just wasn’t able to keep my attention on it. I decided that I didn’t have the brain power to work on my other glove either, so Hannah and I headed up to the yarn stash to see what I could find to knit some simple, mindless projects.
I has also found a great shawl pattern, Far Away Dreams by Joji Locatelli, that starts out with lots of simple garter stitching. I had some yarn left over from a sweater that I knitted last winter, so I dragged it out and wound it up too. Hannah helped.
Yeah, I’m not going outside in this heat. Poor garden. It got some water and I’m pretty sure that it’s still alive, but that’s it. Let me offer up a poorly shot photo of my new orchid. 🙂
By the way, I did notice that my potato plant in flourishing in spite of the neglect that happened this week. Figures. It’s growing taller than the dead rose twig coming up through the plant. I think that it’s growing to just spite me now.
Have a great week, everyone!!
Read a little, knit a little, and garden like your heart can’t live without it.
What is this flare that I am whining complaining about? A flare is a surge of symptoms in both number and severity. In my case my constant fatigue gets a lot worse, my joints and muscles become pretty painful, eczema eruptions appear, and my gastrointestinal symptoms intensify. If I walk into the hot air outside I can’t breathe. Bad scleroderma, bad!! I’m on more drugs at the moment, staying on oxygen through the day, and surviving on yogurt and simple carbs. Next week has a better forecast and I’m looking forward to eating some great green chili!!
Week 26?! Do you realize that we are now at the halfway point for the year? I don’t know about you, but 2020 has been just horrendous so far. I do hope that it decides to straighten up and fly right for the second part of the year…
There has been a lot going on for me this week, but I think that I will just start out with the Hannah update. Hannah, who is almost certainly the last kitten that I will raise, is turning out to be the perfect mix of all the cats I have loved in the past. She is affectionate and attached to me, easy to distract and train, smart, talkative, and fearless. She ignores the plants and hasn’t gone after my knitting all week!!
Okay, it isn’t all sunshine and roses. She climbs into the refrigerator and dishwasher every time I open them. She started climbing the screen door and curtains today. She pestered me to wake up this morning because she wanted me to turn off the oxygen machine so she could play downstairs… I’m hoping that that doesn’t turn into a thing! Still, I am so happy to have my little buddy now that it appears that Covid-19 won’t be going away any time soon in my part of the world.
I’m making some progress on my socks! The first sock is done, and now I’m cruising through the second sock. I’m focusing on small projects that I can quickly stuff into a project bag because… kitten!!
I love the stripes so much that I’ve been daydreaming and trying to work out how to knit tipless gloves by adapting my usual fingerless mitt pattern to put on the half fingers. Wanting to maximize the amount of leftover yarn I dug through the stash and located the purple yarn that I’m using for the heel and toe portions of the socks. I’m pretty pleased with the look, and now I’m wondering how to incorporate the purple into the gloves. My Ravelry notes are here.
The week has been one of gloomy afternoons and thunderstorms. Luckily I haven’t had damaging wind or hail, and the roses continue to strut their stuff. My Princess Alexandra of Kent rose in particular continues to shine.
I finished The Mirror & The Light this week. I hardly know what to say. This is a rich, rich book that will continue to haunt me in the weeks to come and I may need to read the entire Wolf Hall trilogy again. Maybe it is because I am entering my fourth month of isolation, and I have lots of time on my hands to reflect on things, but the richness of the characters and the subtle connections of the past to the present as the story plays out, but never really ends, are just astounding. Cromwell ponders on how images painted in the past bleed through new paint to show in the present as he remembers violent actions in his past. Memories of his years as a soldier rise as he marches into meetings and dinners. Near the end of his life, imprisoned in the Tower of London, he recaptures that transformative moment, broken and bloodied in the street, when he abandoned his childhood to launch on the path to who he was now. At the start of this book one of the standout lines is, “if you cannot speak truth at a beheading, when can you speak it?” At Cromwell’s own beheading there is a sense of truth and transition again; I was dreading the end of the book, but you know what, it was actually hopeful and a befitting closure to a great life.
After a book like that, what next? Science fiction, of course! I launched right into a fun little space military opera that is a three book series and I’m happily working my way through it.
Look at this! A new category just appeared again. This week has been kind of tough on me joint-wise, and I have finally made myself admit that I need to lay off the knitting for a while. Okay, my joints are really kicking up a fuss, and my shoulder is the biggest complainer. Sigh. It’s like all of the tendons and ligaments are under attack at once, and my drugs aren’t keeping up any more. I’m already on a lot of drugs, and in the world of Covid I’m fearful of getting steroid injections into the worse joint complainers because it increases my immunosuppressive load. Scleroderma, you need to behave yourself!! Anyway, I need to lay off the knitting, so I dived into my endless stash of “projects that I want to make someday” and…. pulled out a really cute art quilt!
This is the first block to build “Calling Me Home” by McKenna Ryan. The picture is built by tracing the pattern onto little bits of fabric that are then fused together. No sewing at all until I get the whole quite top put together. I’m thinking that my shoulder can handle this…
It’s like an adventure! All I have to do is figure out which little fabric bit goes with what. Luckily I have that picture to help guide me. This is going to be a little like building a jigsaw puzzle! I hope that Hannah behaves herself while I’m cutting all of the pieces out.
Have a great week, everyone!!
Read a little, knit a little, and garden like your heart can’t live without it.
Five years ago the course of my life altered forever when some blood test results ordered by my doctor arrived: the results showed that I definitely had two autoimmune diseases. Specifically, I was producing antibodies that were diagnostic for scleroderma and Sjogren’s disease. I was expecting lupus, so this was kind of a surprise shock. After a quick trip to Google to establish what type of scleroderma was associated with my positive test results I burst into tears. It was worse, much worse, then I expected.
The scleroderma diagnosis was the problem. Through an unbelievable sequence of serendipitous life events I was more knowledgeable then the average newly diagnosed patient, and I knew that scleroderma was a disease that impacted connective tissue, that it was progressive, disabling, and that there was no cure. This was a life-altering diagnosis, and I was in for a long fight that would last the rest of my life.
You see, I used to work in a rheumatology research lab, and I did research in scleroderma. I was a member of the research team that found the first identified antigen associated with scleroderma. I had visited scleroderma patients in the hospital. Later in my life I taught AP Biology and spent years trying to explain connective tissue to students. It’s a type of tissue that we just never think of, but it is critical in organizing and operating our bodies. Connective tissue makes your skin elastic and strong. It organizes your muscles and makes up your tendons and ligaments. It is a critical layer in your blood vessels, and is part of the essential structure of all of your organs. In scleroderma all or parts of this connective tissue is under attack by your immune system.
You can perhaps see that same thickness on my face, especially on my cheeks. It means that I don’t have wrinkles, but it is also hard to open my mouth, my smile is mostly gone, and I can’t turn my neck well. Crazy, huh.
That is the most ironic aspect of scleroderma: you look pretty darn good, especially if you are a senior citizen like myself, but you actually struggle daily with your illness. For many scleroderma patients their disease just involves the skin, but for others, the disease is more than skin deep.
As it turns out, my skin is the least of my worries. The rare type of scleroderma that I have, systemic sclerosis, also causes scarring of internal organs. The muscles of my stomach and esophagus have lost function. My kidneys are damaged and I have chronic kidney disease (stage 3). My lungs are scarred and my diaphragm isn’t exactly happy any more. Part of my stomach herniated up into my chest this year… whatever was it thinking of?! My tendons are getting calcified due to inflammation and at least one has partially ruptured. My muscles are sore to the touch and I have bruises everywhere. I have nerve damage and trouble controlling my body temperature. It’s hard to walk. Blood vessel damage affects circulation to my hands and feet and I’m starting to develop open sores (ulcers)… There is a long list of diagnosed conditions linked to my scleroderma, but you get the idea. Pretty much I’m a walking limping train wreck. Well, a knitting train wreck for sure!
There is no cure for systemic sclerosis, but there are treatments that really help a lot. I am taking four different drugs to crush my immune system into submission; it’s a balancing act as I need my white blood cell count to stay high enough to protect me, but low enough to control my symptoms and prevent more damage. I take a drug to shut off the acid produced in my stomach so I won’t accidently inhale it in my sleep since the muscle barrier that usually keeps it in my stomach is now gone. I take a couple more drugs that help control inflammation, and some supplements that help with nerve damage. I’m on oxygen at night. All of these drugs/supplements have made a huge difference for me: my last lung scan showed improvement and my high heart pressure, the most concerning complication that I had, has returned to normal ranges. My kidney damage continues, but it has slowed way down. There is something funky going on with my red blood cell count, but you can’t win them all, right? The main point is that I continue to manage and live independently.
MacKenzie and I last year when I posted this online as part of the “Face of Scleroderma” campaign.
In short, I am a mess. And yet, to the joy of my doctors, I continue to do really well. Okay, I have blue lips, am short of breath, and struggle with tissue damage, but I also continue to thrive compared to other scleroderma patients that they treat. I have had to make many changes to my life, but I have found work-arounds and I still do things that I love. Attitude is all!
Well, knitting, the cat, and the garden are pretty darn essential, too!
So, there it is. What an annoying disease, right? How dare it make you look younger while shortening your life? How dare it do all of this invisible internal damage that makes people think that you are lazy or an attention-seeking hypochondriac when actually you view each day that you are able to leave the house as a personal victory? I’m in several online support groups and there are people dealing with crushing negativity like that. I can see how it can happen; it is so hard to understand something beyond your own experience that is hidden from view.
That’s why there is Scleroderma Awareness Month. It is hard to have a rare disease, especially when it is one that is hard to pronounce (Sclero… what?!). It’s harder still to have one that has no cure and a pretty high fatality rate (hey, with all of the drugs that I’m on my 10 year survival rate is now up to 80%!!). It makes you learn to laugh in the face of terminal complications while forcing you to take every possible precaution to avoid contracting Covid-19. It messes with your head; it gives you power, but it’s also strange and a little lonely.
That’s why we scleroderma patients share our journey with all of you every year so you can get a glimpse of our lives.
I am the Face of Scleroderma.
Footnote: In addition to scleroderma I also have Sjogren’s Disease and fibromyalgia. The symptoms from these three diagnosed conditions overlap and always make things interesting in sorting out my treatment plan. You can learn more about any of these autoimmune disease by checking out the links in my post.
This week I finished up the pulmonary tests to see what was up with my lungs. This was pretty darn stressful and the poor BLZ was just besides itself with the trauma of walking into a major hospital to get admitted for outpatient testing.
I was brave. On the day my state opened up the first drive-through testing station for the Covid virus, I presented myself at outpatient admissions. I wore my fleece gloves the whole time I was there and followed all of the safety guidelines. I combined two appointments into one so I could pick up the equipment for overnight oxygen level monitoring while I was in the building for pulmonary function testing. The hospital was almost deserted and had bottles of hand sanitizer out for use at every stop on my route, so it wasn’t as bad as it could have been. I literally swerved and walked around anyone in my way, especially if they were wearing a face mask…
In case you all need a reminder, my red blood cell count (rbc) is way too high, and I have blue lips and shortness of breath. My internist diagnosed polycythemia, and once I googled it I discovered that I have every single one of the listed symptoms. The purpose of all of this testing is to uncover the underlying condition causing my rbc to rise. So, let’s just jump to the chase. Here are the results:
It’s not pulmonary hypertension. Yay! That would have been really bad news. My echocardiogram showed that I am at the upper limits of heart wall thickening, and my pulmonary artery is at the upper limit of normal, but I’m hanging in there.
My oxygen level fell below 89% for almost an hour while I was sleeping the night I wore the monitoring equipment. Yay!! Houston, we have found a problem!!
Once the results were in the pulmonologist’s office called for a phone appointment and I got the good news. Well, the sort of good news. I have to go on oxygen overnight to keep my levels up, and the hope is that my rbc count will start to drop. If overnight oxygen doesn’t do the trick I may have to go to oxygen 24/7, but I’m not there yet. (The BLZ is happy but a little sad too. The BLZ hates to wear oxygen, and really doesn’t want to wear it when it goes out shopping… ) Seriously, I don’t appear handicapped until I have to walk with a cane and wear oxygen… then there is no hiding it any more.
Thinking about future appointments and the procedure with the hip specialist (I need an injection of steroids into my bad-boy hip), I asked what my risk from Covid was… (The BLZ was trying to not cry) and my pulmonologist told me straight out that she thought I would survive an infection but that I should put off any more trips to medical clinics for a few more weeks so that hospitals could finish gearing up for severe cases. Well, shoot. (The BFZ is now sobbing…)
Then I throttled the BFZ into silence and headed out to buy the last of the supplies that I needed to get through a few weeks alone. I’m immunocompromised; the medications that I take to control my autoimmune diseases have helped me to become stable, but they also make me high risk for any infection. Nothing has changed, I reminded the BLZ, but now the risk of a serious infection is coming at a time when the medical system may be overwhelmed and unable to take care of me. I’ve been using good judgement, social distancing, and hand washing for a few years now; I will continue for myself and everyone else sharing this scary time.
The truck carrying the oxygen equipment was at my house waiting for me when I returned so I am set up. Hopefully the BLZ will now slowly fade away and I will stop panting for air every time I move.
If this was a race to get new test results into my chart, the underlying cause of my polycythemia identified, and remedial measures into action, I have made it. I have a phone appointment with my new rheumatologist next week and I will ask her about the hip procedure and referral to the foot specialist, but I think that in the current unfolding Covid crisis there isn’t any hurry.
As for the inner voice that worries and feels panicky, my inner BFZ voice, I am going to smooth it into submission with the peaceful zen of knitting. Be brave, be brave, I purr to myself. Just like my son’s kitten Jonesy.
I feel like I am in a race now. I absolutely, positively need some answers to all of my little medical issues, but I have to hurry, hurry, hurry because the Covid-19 virus is already in my state and I think that in just a matter of days or weeks the health care machine is going to be devoted to critical care and the pandemic response. I hope none of my doctors get sick. I really like the nurses in their offices. Gee, this is starting to get to be really stressful…
So, this is the situation as I got into the car and drove to medical clinics FOUR different times last week. By Saturday, when I needed to drive to a facility an hour away for MRIs of my right hip and left foot I was starting to feel like I was pushing my luck. The BLZ totally wanted to stay in bed. I was worried about having to go through an urgent care waiting area full of sick people because the last time I did that I came down with… THE FLU. Ugh. The place is sure to be crowded with weekend warriors and sick people who were afraid to take off work on a week day…
When I got there the parking lot was almost empty. What?! What is going on? I checked on my phone to make sure I was at the right facility, and then went inside to see if I could find someone. The place was deserted!! The only person in sight was the security guard in her glassed-in station. I checked in with her to discover that the entire facility was closed except for… wait for it…medical imaging!! Woohoo!! I clomped down to the basement for my 90 minutes in a MRI machine feeling pretty good about my chances of avoiding this new virus that I’m now sure is gunning for me. All went well, I headed home, fixed myself a little dinner, popped a couple of gummi bears into my mouth while I was cooking, and BROKE A TOOTH!!
Sigh. Now I have another two medical appointments because the tooth is sure to need a crown. Plus I have two more testing appointments next week which will really be starting to push the safety margin. The BLZ is not happy.
Today I saw my wonderful dentist who let me know that gummi bears are notorious for hurting teeth. Who knew? He fixed my tooth and gave a computer print-out for a type of safe gummi bear, and before I left the office I saw that the MRI test reports were ready. That means my rheumatologist already released them. I read the reports in the car in the parking lot on my phone before heading home. (Although I wanted to go get my gummi bears!!)
Background: I have been struggling with painful and swollen joints for at least three years now. My last rheumatologist tested me for inflammation markers (C-Reactive Protein, to be exact), and since my level is normal, she concluded that my joints were fine, that I was a whiner, and the symptoms that I reported were exaggerated. (!!) I wrote about the last awful appointment I had with her in this post. After I had recovered my mojo and began to take action to improve my situation I wrote about my old rheumatologist and my swollen joints here. My new rheumatologist, who I saw last week, ordered these MRIs to check some lumps on my foot and my bad-boy hip. She wondered out loud why no one had followed up on my first appointment to the hip specialist. I think I’m going to be much more happy with this rheumatologist.
Oh, my. My hip joint is really bad. The word severe was used. There is edema in the bone! There is fluid around the joint that is pushing out into a bursa towards the front inside part of the hip joint. (The very bursa that I asked about before when I saw the orthopedic specialist. It couldn’t be involved, he assured me, because that would be very uncommon. The BLZ is braying “I told you so!”) A tendon on the outside of the joint is partially torn. The synovial lining around the joint is inflamed. Even joints in my ankle (that don’t bother me) are inflamed and have fluid in them. Stunned, but feeling absolutely vindicated, I began to drive home. Before I had even gotten to the freeway the new rheumatologist was on the phone to me. She is sending me back to the hip specialist and I need some steroids into that hip joint as soon as possible. And maybe surgery. And I should go back to physical therapy. The BLZ decided we should mention my knees later on… Oh. I almost forgot. I also have two benign tumors on the bottom of my foot that will require another specialist. Did you hear that thud? That was the BLZ flopping over backwards in dismay.
Tomorrow I head back to the clinic in the north to get a pulmonary function test and to pick up the equipment for overnight oxygen level monitoring. I won’t touch anything, BLZ. It will be okay. We are brave! We are on a roll now and we are getting some answers!
I’m thinking of myself as the “Blue-Lipped Zebra” these days. Let’s just call me the BLZ for short. You know, a rare breed of difficult patient who is ornery, persistent, and stubbornly insistent on getting straight answers. I’m trying to not use that zebra voice, but if pushed I may whip it out. I’m going after all my doctors to get to some explanations about my panting, blue-lipped, exhausted current state of being. I made myself promise to keep my internal dialogue under control and to not get pulled off topic. Sounds like a good plan, right?
Whew. It is only Wednesday and I’m pooped! I have talked with or met with three different doctors and scheduled 5 different tests. I also made repeat appointments to get back to these doctors after the testing is done. I went into this determined to do a better job coordinating with my doctors and to shift the conductor role to my new rheumatologist. I’m reflecting on what’s happened so far and what my next steps are, and I’ve decided to share with all of you.
Prologue:I have been struggling with shortness of breath, extreme fatigue, and feeling dizzy/faint. My lips frequently look blue. The itching is insane, and what is up with these rashes? I have more recently developed abdominal pain in the area of my spleen. After initial testing my internist has diagnosed secondary polycythemia.
Act 1: The Internist
This was my first phone appointment. My internist is the doctor who diagnosed me with secondary polycythemia, which is a condition with too many red blood cells. The high cell count, in my case, is now presumed to be due to an underlying problem involving my lungs or heart; since lung and heart damage is common with systemic sclerosis that makes a lot of sense. We talked about my gene test results (I do not have the genetic mutation that would have caused the more serious form of polycythemia, which is good!) and planned my call with the pulmonologist. That’s right: I got some coaching from my internist! I agreed to send her an email about what happened with the pulmonologist and rheumatologist after I met with them, and she assured me that she would order any testing that the other two doctors did not. That’s right – I asked her what testing I should ask for. I love this doctor!!
Act 2: The Pulmonologist
Well, this didn’t go the way I thought this would… good thing I got some coaching. It started out with this doctor saying that she didn’t know what I expected her to do over the phone when she hadn’t seen me in her office for over a year. (She fussed at me last time for coming earlier than a year. I tried to make an appointment, but the nurse insisted it would be better for me to make a phone appointment before I saw the rheumatologist… ugh!!) I explained the situation to her, and she immediately said that she didn’t agree with the diagnosis, and that she didn’t think that my rbc count was all that high. <The BLZ was pretty disgusted by this and wanted to blurt out that the diagnosis wasn’t open for debate, but I throttled it into silence…> After redirecting the conversation to my symptoms (you know, ending up on the floor panting for air after a little vacuuming…) she did agree that there was probably an underlying problem driving the elevated rbc count and it would be good to order up some tests before I came to see her in her office.
Sigh. Why is this so hard?! I wondered if we had just been talking at cross purposes about the same thing. <The BLZ wondered why I had to keep battling for routine testing when my diagnoses required it. Whatever.> The tests were ordered and I agreed to make an appointment to see her in her office a few days after the testing was completed.
Act 3: The Rheumatologist
Finally, finally I have landed in the rheumatologist office that the BLZ has longed for. This doctor felt that the lung testing was absolutely warranted, and that if nothing came up she would go right for a cardiologist referral and heart testing, and a hematology referral also if needed. She kind of thinks that this is my heart, but it is good to get the lung testing done first. <The BFZ is now bucking around… happy for action, but a little scared, too.> She reassured me that the tests that were already ordered were exactly the ones that she would have ordered, but they were just the opening round. She mentioned a test that the pulmonologist has refused to order, saying that it is the only way to get accurate information. Yay! Then she did the exam and reviewed the notes on my orthopedic referral since I still can’t walk and I’ve developed more tendon issues in my foot. “Why hasn’t there been a follow-up on this?” she asked. She ordered two MRIs to look at my hip and foot, and gave me the paperwork to get a handicapped parking pass. She also ordered blood work, told me to call her after the testing was done, and that I should be in her office again in 8 weeks. <The BFZ was stunned. Usually I’m told to come back in 6 months.> I have the scleroderma director that I’ve been looking for, people!!
I spent 5 hours over the last two days making phone calls, appointments, reading all of the medical notes attached this week’s appointments, and writing emails. Whew. Through the constraints of scheduling calendars I will be talking about my test results with the rheumatologist before I interact again with my slightly hostile pulmonologist. When I read the pulmonologist’s notes on our phone appointment it kind of smelled of “cover your ass” and the BLZ’s nostrils crinkled in disgust. After begging for inhaled steroids for a couple years, when I saw her last time she offered me a few months worth. Yay! I said. I wanted to check with the rheumatologist before starting them because I’m already pretty immunosuppressed, which I did, and the inhaled steroids were prescribed soon after by my internist and I’m using them right now. In the notes she wrote that she had recommended these steroids and I that I had refused. <The BLZ immediately noticed the nasty trickery with the verbs there…she offered and I deferred!> She also described my landing on the floor while vacuuming as “needing to rest while doing moderate tasks”. The BFZ is beyond disgusted at that. <Get a new pulmonologist, the BFZ barks!>
So, it was a pretty darn good start of the week. Tomorrow I head off to get an echocardiogram of my heart, and over the next week or so the rest of the testing will happen.
Coronavirus, be good and stay away from me!! I’m going to be in a lot of medical facilities for the next few days.
I haven’t been blogging all that much about my chronic conditions lately… the truth is, I hardly know what to say. I’m sick. I still struggle every day. I’ve been making a lot of adjustments over the last couple of years as I tackle never-ending obstacles, but I really don’t dwell on things too much and I don’t make too many demands of my doctors. I’m still happy, busy, and I manage work-arounds for lots of things that I want to do. Then suddenly this winter I realized that I wasn’t doing all that well after all.
Background: For several years I have been consistently complaining to my doctors that I am short of breath, fatigued, itching, rocking blue lips, and not quite right. My doctors are all like… hmm… that is interesting. Well, it isn’t (insert specific issue that this doctor treats me for), so I’m not sure what to do. We’ll keep monitoring… Maybe you should ask this other doctor about it…
This last December I really hit the wall. I was so exhausted that I was afraid to go shopping by myself. I ended up on the floor panting for air more than once. I collapsed in the yarn store. My lips were blue. The itching drove me crazy. Something in my side hurt and strange bruising kept popping up. Fainting suddenly became an issue again.
I went to my internist and told her what was up and she immediately ordered several tests. Some scary things like lymphoma were ruled out, but others suddenly reared their ugly heads. I have way too many red blood cells and too much hemoglobin. My cell count spiked to its highest last December when my symptoms were at their worst. Suddenly a new diagnosis was placed on my chart: polycythemia.
Now the fun really begins. I have a lot of things written on my chart. I am diagnosed with several autoimmune conditions: limited systemic sclerosis (scleroderma), Sjogren’s Disease, and fibromyalgia. These diseases come with a boat load of complications as they tend to cause trouble everywhere they go: I have stage 3 kidney disease, lung disease, hypertension, Raynaud’s Phenomenon, gastroparesis, tendon damage, bursitis, several crazy eye issues, fluid around my heart, and a stomach that has herniated partly into my chest. Seriously, who knew that was a thing? Actually, my whole GI tract is in trouble. My muscles hurt and the joints are swollen. Do you see how confusing treating me can be when a new medical problem emerges? No one wants to rock the boat! My diagnosed conditions actually make it harder for me to get good health care at this point. I know that I am a high risk patient, but this is ridiculous, doctor people!
My internist checked to see if I had the very serious and rare version of polycythemia called polycythemia vera, and since my hormone levels were normal she concluded that my polycythemia was being caused by an underlying condition, and we should just monitor my red blood cell count in ongoing routine rheumatology blood work.
What? Wait… what about my blue lips, panting and all the other symptoms? My immediate reaction was… OH, NO, WE ARE NOT DOING THAT!!! I am done with the ending up on the floor panting every time I try to do something reasonable like… say… cooking dinner! I dusted off the biological researcher part of my brain, generated a list of essential questions, and did a bunch of online searches to see what I could find. The trick to this is to have good questions and the right seach terms. As I worked, things became more productive. Wow. I learned a lot and now I had more questions for my internist. I wrote her back an email with a bulleted list of questions that… she never got. She’s on vacation. One of her partners looked at the email, became alarmed by my symptoms, and called to urge me to head to an ERimmediately (!!) to be evaluated. She was pretty insistent…
Which kind of proves my point! Anyone else who ended up on the floor with blue lips, panting for air, because she tried to vacuum the living room would receive timely medical intervention!! This is not reasonable. I’m not getting the care that I should because I am too complicated and there are too many doctors involved. This has been going on for three years and now it is worse. Did one of your parents ever say to you when you were a kid misbehaving in the backseat, “Don’t make me pull this car over!” I am now pulling the car over and stopping this ride.
Tonight as I write this I am just hours away from a phone appointment with my internist. I have my questions ready to go. In the afternoon I have another phone appointment with my pulmonologist; I plan to tell her about the new diagnosis and to ask her about testing that I should have to help identify the underlying cause of the polycythemia. Maybe she will have some other ideas. Tuesday morning I have an appointment with my new rheumatologist and I hope to pass all of this to her. This rheumatologist specializes in complicated cases, is recommended by the Scleroderma Foundation, and prefers to personally coordinate the entire care team. Yay! Here I come! I am the girl for her!
There are many things that are happening to me that are upsetting: my hair is falling out, I have a rash on my face, and I now use a cane to get around. This is the kind of stuff that makes you want to sigh and stay in bed some mornings. You wish it wasn’t happening to you. It’s upsetting.
Then there are things that are just down right concerning. In my mind a red flag pops up and a small siren goes off: strange and unexplained bruising, double vision, pain in my left side, blue lips, panting for air while trying to open a door, tremendous itching after showers. This kind of stuff is a call to action; get out of bed and deal with it! I am now mobilizing all of my energy towards GETTING TO THE BOTTOM OF THIS and securing answers, treatment, and hopefully, an improved quality of life.
Because there is a difference between upsetting and concerning. I am not upset, but I am concerned. I am mobilized. I have questions and I want answers.
I am totally over the blue lips look!
I’ll let you know how this all works out. It should be a busy week.
I’m an orphan. I’m a zebra. I am rare. This is a club that is hard to get into because it has really specific criteria, but it also has lots and lots of members.
What, you say? Whatever is she talking about?
I’m talking about rare diseases! 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. You can learn more about rare diseases in general and search for specific conditions/diseases in the links at the end of this post.
So, what is Rare Disease Day? The purpose of this day is to raise awareness of the many, many diseases that are classified as “rare” around the world. The hope is that by shining a light on these diseases, and to put a face on the people who struggle with the many rare conditions that are out there, there will be improvements in how these people are handled in the health care system, drug companies, funding agencies, and by the public.
I joined the rare disease club 5 years ago when I was diagnosed with systemic sclerosis, a serious form of scleroderma that has no cure, can be disabling, progressive, and often fatal. These last 5 years have certainly been eye-opening for me, and I believe that my experiences are shared by many others who struggle with rare diseases. Let me list some of my epiphanies during this journey:
People in general are dismissive of illnesses that they have never heard of before. If you are a person with a rare disease, it is almost a certainty that no one has heard of your disease. Oops. You just got written off as an attention-seeking hypochondriac by a person who hardly knows you because they never heard of your disease…
The health care industry is designed to treat people with common diseases, and often ignores, dismisses, or denigrates patients who don’t fit the normal profile: the zebras. It is really, really hard to get a diagnosis for some rare conditions (autoimmune diseases like mine are famous for this). If you have a rare disease, you are trying to make your way through a system that wasn’t designed to identify and treat you.
There is little incentive for drug companies to develop treatments that can only be used for a small patient population. That’s why there rarely is an effective treatment or cure. That’s also why drugs for rare diseases are called orphan drugs; another name for a rare disease is an orphan disease. Yep, I’m an orphan, but there are several drugs with orphan status in the development pipeline right now. I’m lucky that way; most orphan diseases have no drugs for treatment under development.
To be rare means you may be too risky to treat. Once you are diagnosed with an unusual health condition it actually interferes with your medical care; because you are complicated physicians are likely to dismiss or “just monitor” symptoms that would receive immediate attention in another patient. Without more experience they can’t be sure what is “normal” for you and/or if the treatment usually used for other patients might make things worse for you. There’s another whole blog post about this on the way!
It is really, really hard for people to wrap their heads around “chronic.” We almost all universally believe that people can get better if they just try. Attitude is everything, right? If you just took this supplement, started eating keto, got more exercise and sunshine, tried essential oils…
Closely associated to this belief in the general public is one that assigns blame to the ill for their disease. If you are sick it must be because you ate too much red meat, or are obese, or failed to exercise enough. You should have eaten organic!! I know that people do this because they want to believe that they are safe from a similar diagnosis, but it still adds to the burden of those dealing with a life off the mainstream, caused, not by their choices, but by an inherited flaw in their genes.
If all of this wasn’t enough, or maybe because of all of this, rare diseases are expensive and isolating. Resources are few. Support is hard to find. You feel alone. An orphan.
So, this is Rare Disease Day. Some people with rare diseases must share experiences like mine; many are far, far worse than my own. If you would like to learn more about rare diseases here are some resources:
I just got the email from the vet’s office last week: Happy Birthday, MacKenzie! Really, we aren’t completely sure how old MacKenzie is as I adopted him as an adult from a PetSmart over 14 years ago. The vet at that time felt he was at least 2 years old, which makes him now over 16. He is an elderly gentleman cat in his golden years.
Things weren’t always good with MacKenzie. He had been surrendered by his previous owner due to bad behavior: he scratched and destroyed everything in his path. Okay, let’s be frank here: MacKenzie was hell on cat feet!! Sneaky and wise to the ways of a spray bottle, he was hard to control as he ripped up curtains, furniture, and even dry wall. He was also extremely needy and demanding; there weren’t enough toys in the world to keep him entertained. Very smart, strong willed, curious, socially inclined, and a cat asshole, he was a mess like no other. I hunted for cat behavior modification tips on the internet, bought cat trees, scratching posts, liquid catnip, and kitty deterrent spray for the furniture. I also bought kitty cookies!!
It took a few weeks, but with enough toys, his kitten, and lots of positive attention (and scratching posts) his behavior changed and he transformed into the cat I have today. He’s still a handful, but he (mostly) wants to please me.
The last year has been one of difficulty and medical misadventures for MacKenzie and me. Last winter I was struggling with swollen and painful joints, inflamed tendons/ligaments, and had trouble walking. MacKenzie’s right jaw locked and became badly damaged. I had to cut down his kitty cookies. By the end of summer my leg was completely collapsing and dropping me, and MacKenzie blew out the other jaw joint. I could see white bone in the joint before I got it to unlock and rushed him to the vet. Not good, not good, not good. I got him in the door at the vets office in his carrier somehow while managing to walk with one crutch.
MacKenzie will need surgery to completely recover, but in the meantime the vet and I decided to use a course of anti-inflammatory drugs to help him heal. I wasn’t sure I should put him through surgery due to his age and general hatred of vets. The biggest problem was having to move him to soft food and there could be NO MORE KITTY COOKIES!!! MacKenzie hates soft food so I also bought him kitten food with its tiny kibble.
The blood tests showed that MacKenzie had hyperthyroidism so we started him on medication for that. Everything was going great until…
We were really in trouble. MacKenzie was taken back for x-rays and an evaluation. Extreme constipation. A swollen spleen. Stones in his bladder. The vet wanted to do a biopsy on the spleen as it is probably cancer. He needed to have special food to dissolve the kidney stones; he will need surgery if they don’t dissolve. He had a loose tooth that needed to come out. I started him on the food and we made plans to have an ultrasound done in another month to check on the spleen and bladder stones.
Meanwhile I was having a spot of trouble myself. I developed extreme exhausion and worse shortness of breath. I had a few bouts with faintness and couldn’t stay on my feet more than a few minutes at a time. I collapsed in the yarn store and just narrowly avoided a 911 call. My face looked blue around my mouth way too much. I had a persistent pain in my side. My doctor ordered blood tests and a CT scan. I was ticking all of the boxes for lymphoma…
The special food for MacKenzie’s bladder stones came as soft food and a dry nugget kibble. The kibble was much larger than the kitten food, but I switched him to it anyway and offered him soft food too. I faithfully kept giving MacKenzie the medicine for his hyperthyroidism as the vet emphasized that this was critical for me to do. I was supposed to give MacKenzie a stool softener every day, but he refused to eat it on his food and would just vomit up the pill if I got it down him. The strong-willed sneakiness that got him dropped off at PetSmart all those years ago was back as he snuck behind furniture to throw up the pill where I wouldn’t find it.
I caught the flu when I went in for the CT scan, and while I was sick MacKenzie began vomiting and showing signs of constipation. For 4 days. I battled with him to get his stool softener in. Desperate, I finally smeared Vaseline on his paw hoping he would lick it off and ingest it, and I stopped giving him his hyperthyroid medicine as I’m pretty sure it is the cause of this constipation.
Meanwhile my test results came back: not lymphoma, but that pain in my side is my spleen. My spleen! Me and the cat, rocking our swollen and painful spleens!! My blood work showed that my red blood cell count was way too high, and I had to get tested for a rare blood disorder called polycythemia vera (no results yet), and my doctor ordered a couple of other cancer screening. I also have a small hiatal hernia, a damaged esophagus, and increased fluid around my heart. Oh, scleroderma, why can’t you just behave yourself?! I have a sick cat on my hands!!
Vaseline saved the day and we managed to stay out of the kitty ER. Then MacKenzie’s loose tooth fell out and I broke a molar. “Why are we trapped in this bizarre parallel medical misadventure horror story,” I asked MacKenzie. Too sick with the flu to go anywhere, we both just had to hang tough for another week.
Then, just as MacKenzie got to the 30 day point on his special food, he dislocated his jaw again. Well versed in how to respond at this point I was able to get it to release within seconds, but that was the end of those big kibbles. I switched MacKenzie back to his kitten food. The vet prescribed a sugar solution, our last option, that I’m supposed to give MacKenzie three times a day to control the constipation. Right. I’m supposed to convince this ornery, strong-willed, too-smart-for-his-own-good cat to gulp down sugar water from a syringe every day. How can I do that without getting bit?
Give him KITTY COOKIES, or course. I stay right with him the whole time in case his jaw goes out.
So, here is the crazy end of the story. I’m feeling better after three weeks of bed rest and eventually we will get to the bottom of my new symptoms: I have some invasive testing coming my way and depending on what happens there will be further treatment. I’m pretty sure I’ll be back on oxygen before this is over. My cat is also feeling better and is pretty much back to where he started: eating the food that he wants and getting his kitty cookies again. Here’s the thing: I am in control of what happens to me, and can decline medical treatment, but MacKenzie needs me to do that for him. Last week I made those decisions.
My vet calls each week to check on MacKenzie; she has discussed the importance of maintaining a good quality of life for him as long as possible, but to not go too far. I have stopped all of MacKenzie’s meds except for the sugar water and I have decided to not subject him to any invasive testing, surgery or chemo. I’m going to keep him as comfortable as I can and we will ride this out to the end together.
Heaven had also better lay in a stock of kitty cookies!!
Life went into intermission this week as I spent the ENTIRE WEEK in bed with the flu.
I did get a flu shot this year but one of the drugs that I take for my scleroderma interferes with vaccine efficacy. Curses! I do think that my case was kind of mild, but bad enough to make life very difficult for several days. I couldn’t even knit!!