When you’re dealing with a challenging health situation, it can be hard. Hard because of what you are dealing with, and hard because you need to navigate getting and seeking care. That typically looks like going to a doctor, getting the doctor to understand the problem, and then finding solutions to deal with the problem.

Each of those has their own challenges. You may not have a doctor that specializes in the area you need. For example, you may not have a primary care doctor when you have strep throat, and have to go to urgent care instead. Or maybe you develop a problem with your lungs and need a pulmonologist, but that requires a referral from someone and several months’ wait to be seen.

Once you face that challenge and are in fact seen by the specializing provider (and hopefully the problem you have is in fact the one this specialist can address, rather than referring you on to a different kind of specialist), you have to figure out how to communicate and show what issues you have to the doctor. In some cases, it’s really obvious. You have a red, angry throat which leads to the doctor ordering a strep test. Or you go to the dermatologist for a skin check because you have a mole that is changing, and you get a skin check and a biopsy of the mole. Problem identified and confirmed.

It takes identifying and confirming the problem, and usually diagnosing it, to then reach the stage of addressing it, either with symptom management or with curing or fixing or eliminating the source.

But…what happens when you and your doctor can’t define the problem: there is no diagnosis?

That’s a challenging place to be. Not only because you have a problem and are suffering with it, but also, the path forward is uncertain. No diagnosis often means no treatment plan, or the treatment plan itself is uncertain or delayed.

No diagnosis means that even if your provider prescribes a treatment option, it may get denied by the insurance company because you don’t have the clinical diagnosis for which the treatment is approved for. Maybe your doctor is able to successfully appeal and get approval for off-label use, or maybe not.

And then, there’s no certainty that the treatment will work.

So. Much. Uncertainty. It’s hard.

It’s also made hard by the fact that it’s hard to tell people what’s going on. A broken leg, or strep throat, or a suspicious mole: these are things that are relatively easy to explain to other people what is going on, what it means, how it might be treated, and what a rough expectation of timeline for resolution is.

Most stories are like this. There’s a story arc, a narrative that has a beginning, middle, and an end.

With the uncertain health situations I’m describing, it’s often never clear if you’ve even reached “the middle”, or what the end will be…or if there even is an end. Certainly no guarantee of a happy ending, or an ending at all if you have been diagnosed with a chronic, lifelong disease.

I’ve been there (here) many times, now living with more than a handful of autoimmune diseases that I’ll have for life. But the first few were relatively “simple” to diagnose, treat, and understand what they looked like. For example, with type 1 diabetes, the symptoms of weight loss, excessive urination, incredible thirst, etc. led to a blood test confirming high glucose, an A1c test confirming it had been high for months, and a diagnosis of type 1 diabetes. The treatment is managing glucose levels with insulin therapy, presumably for the rest of my life. (22 years and counting, here). It makes things challenging, but it’s something I can explain to other people for the most part what it means and how it does or does not impact my life.

Lately, though, I’ve found more uncertainty. And that makes it hard, because if there is no diagnosis then there is no clear explanation. No certainty, for myself or to give my loved ones. Which makes it feel isolating and hard psychologically, in addition to the physical ramifications of the symptoms themselves.

There’s a saying in medicine: “When you hear hoofbeats, think horses, not zebras.” It’s a reminder for clinicians to consider common explanations first, rather than go straight to explanations of rare conditions. Most of the time, the advice is helpful—common issues should be ruled out before rarer ones.

In my case, that’s what we did. We ruled out every possible common condition…and then pretty much all the rare ones. So what do you do, when your symptoms don’t match the pattern of a horse…or a zebra?

You might have an uncommon presentation of a common disease or a common presentation of a rare disease.

Either way, whether horse or zebra, the symptoms cast a shadow. They’re real.

Whether the animal in question has stripes or not, you’re still living with the impact. What makes this even harder is that many diagnostic processes rely on pattern recognition, yet undiagnosed conditions often defy easy patterns. If your symptoms overlap with multiple conditions—or present in a way that isn’t fully typical—then the search for answers can feel like trying to describe a shadow, not the thing itself.

And shadows are difficult to explain.

This makes a meta-challenge on top of the challenge of the situation, which is trying to explain the unexplainable. This is crucial not just for helping your doctors understand what is going on, so we can improve the diagnostic pursuit of answers or gauge the efficacy of hand-wavy treatment plans meant to do something, anything, to help… and it’s also crucial for explaining to your friends and family what is going on, and what they can do to help.

We often want to see or hear health stories in the format of:

• Here’s the problem.
• Here’s what I’m doing about it.
• Here’s how I’m coping or improving.
• Bonus: here’s how you can help

I’ve seen so many examples of friends and family responding to the call for help, for me and for others in health situations. I know the power of this, which is why when you can’t explain what’s going on, it makes it challenging to ask for help. Because it’s hard to explain the “what” and the “why”: you are only left with the “so what” of ‘here’s what the end result is and how I need help’.

(And if you’re like me, a further challenge is the situation being dynamic and constantly changing and progressing, so what help you might need is a constant evolution.)

You might also feel like you shouldn’t ask for help, because you can’t explain the what and the why. Or because it is ongoing and not clear, you may want to ‘reserve’ asking for help for later ‘when you really need it’, even if you truly do need help then and there at that point in time. As weeks, months, or even years drag on, it can be challenging to feel like you are burdening your loved ones and friends.

But you’re not.

The best meta explanation and response to my attempts to communicate the challenges of the meta-challenge of the unexplainable, the uncertainty, the unending saga of figuring out what was going on and how to solve it, came from Scott (my husband). We’ve been married for 10 years (in August), and he met me when I had two of my now many autoimmune diseases. He knew a bit of what he was getting in to, because our relationship evolved and progressed alongside our joint interests in problem solving and making the world better, first for me and then for anyone who wanted open source automated insulin delivery systems (aka, we built OpenAPS together and have spent over a decade together working on similar projects).

That being said, to me it has felt drastically different to be living with ‘understandable’ chronic autoimmune diseases like type 1 diabetes and celiac, and this latest saga where it’s unclear if it’s an extension of a known autoimmune disease (presenting and progressing atypically) or if it’s a new, rare autoimmune or other type of disease. So much is unknown. So many challenges. When we would adapt and address one problem or challenge, it evolved and needed another solution, or another problem cropped up. I’m honestly at this point exhausted of adaptations and problem solving. I’m tired of asking, seemingly endlessly, for help and support. Amazingly, Scott does not seem exhausted by it or tired of me, whereas many people would be. And he said something a few weeks ago, completely off the cuff and unplanned that really resonated with me. I was talking, again (he’d heard this many times), about how hard this all has been and is, and that I was also aware of the effect it has on him and on our relationship. I can’t do all the things I did before, or in the way I did before, so it’s changed some of what we do, where we go, and how we are living our lives. I’m having a hard time with that, and it would be natural for him to have similar feelings. (And frustrations, because if I feel frustrated with being out of control and unable to change the situation and fix it, so too would he be except worse secondhand because it’s so hard to love someone and not be able to help them!)

But what he said literally stopped me in my tracks after he said it, because we were out walking and I had to physically stop after he said it to process it in my heart (and leak some tears from my eyes).

It was something along the lines of:

“You’re not an anchor, you’re a sail.”

Meaning, to him, I’m not holding him back from living his life (as I was and am concerned about).

He continued by saying:

“Yes, the sail is a little cattywampus sometimes, but you’re still a sail that catches wind and takes us places. It’s much more interesting to let you sail us, even in a different direction, than to be without a sail.”

(Yes, you can pause and tear up, I do again just thinking about how meaningful that was.)

What a hit, in the most wonderful way, to my heart, to hear that he doesn’t see me and all these challenges as an anchor. He recognizes them, and that we are dealing with them, but he’s willing and wanting us to sail in the direction they take us, even when that makes us go in some unplanned directions.

Probably some of this is personality differences: I love to plan. I love spreadsheets. I love setting big goals and making spreadsheets of processes and how I’ll achieve them. In the current situation, I can’t make (many) plans, there are no spreadsheets or processes or certainty or clear paths forward. We’re in an ocean of uncertainty, with infinite paths ahead, and even if I set sail in a certain direction…I’m a cattywampus sail that may result in a slightly different direction.

But.

Knowing I’m a cattywampus sail, and not an anchor, has made all the difference.

If you’re reading this and dealing with an uncertain health situation (undiagnosed, or diagnosed but untreated, or diagnosed but with no certainty of what the future looks like), you may feel like you’re a boat adrift in the middle of an ocean. No land in sight. No idea which way the wind will blow you.

But.

You’re a boat with a sail. Maybe a cattywampus one, and maybe you’re going to sail differently than everyone else, but you probably are going to still sail. Somewhere. And your family and friends love you and will be happy to go whichever direction the wind and the cattywampus sail take you.

If you’re reading this and you’re the friend or family of a loved one dealing with an uncertain situation, first, thank you. Because you clearly love and support them, even through the uncertainty. That means the world.

You may not know how to help or be able to help if they need help, but communicating your love and support for them alone can be incredibly meaningful and impactful. If you want, tell them they’re a sail and not an anchor. It may not resonate with them the way it resonated with me, but if you can, find a way to tell them they and their needs are not a burden, that life is more interesting with them, and that you love them.

This has become a long post, with no clear messages or resolutions, which in of itself is an example of these types of situations. Hard, uncertain, messy, no clear ending or answer or what next. But these types of situations happen a lot, more than you know.

If you’re going through this, just know you’re not alone, you’re loved and appreciated, and you’re a sail rather than an anchor, whether you’re a zebra or a horse or a zebra-colored horse or a horse-shaped zebra shadow.

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PS – I’ll also share one specific thing, for loved ones and friends, as something that you can do if you find out about a situation like this.

If someone trusts you and communicates part or all of their situation, and they specifically tell you in confidence that they are not sharing it publicly or with anyone else or with X person or Y group of people…honor that trust and request not to communicate that information. They have a reason, if not multiple reasons, for asking. When dealing with uncertain health situations, we can control so little. What we can control, we often want to, such as choosing when and how and to whom to communicate about our challenges and situations.

If someone honors you by telling you what’s going on and asks you not to tell other people – honor that by not disabusing the trust in your relationship. Yes, it can be hard to keep it to yourself, but it’s likely about 1% hard of what they are dealing with. Passing on the word becomes a game of telephone that garbles what is going on, often turns out to be passed on incorrectly, and causes challenges down the line…not in the least because it can harm your relationship with them if they perceive you have violated their trust by explicitly passing on information you asked them not to. And that, on top of everything else, can make a challenging situation more so, and it may then later influence how they want to communicate with others, potentially shutting down other avenues of support for them. So please, respect the wishes of the person, even if it’s hard for you. You can always ask “can I share this with so and so”, but respect if the answer is no, even if you would do something different in your situation. Because, after all, it is not your situation. You’ve been invited on the boat, but you are not the sail.

The canary in the coal mine was my swollen eyelids. No one (including my providers) seemed to care over the last 3 or so years, but all along, I knew it was a matter of time before my body decided to speak up even more loudly and tell me what else was wrong and what was causing the swollen eyelids. And in January, it was time. My body decided to speak up, and it did so loudly.

I woke up one day in January with a sensation of wool wrapped around my lungs. I could breathe…but not normally. It felt like oxygen was not flowing effectively out of my lungs. My VO2max also dropped suddenly and unexpectedly (given my activity levels) by about a point. And sometimes when I would exercise, my SpO2 levels would drop well below where they were supposed to be, and take a while to come up. Some days were better, but some days I could not walk and talk on the phone at the same time without feeling like I needed to gasp for breath in between sentences (and much shorter sentences than I would normally say). My lungs, in other words, have problems.

I’ve spent the last ~3 months trying to figure out what’s wrong with my lungs, but we are still not to the point where we can define exactly what is wrong. Or, how to make them better. Yet, at least. (I’m pessimistic about “fixing them” but I’d sure like to stop them from getting ‘worse’). Right now, they’re not TOO bad. I did pulmonary function testing and some of my numbers are in ‘normal’ range (although they’ve dropped anywhere from 5-17% from baseline in 2015, when I had a bunch of above-normal results). Other numbers, however, are very below normal (<80% is not normal): some are in the 65-70% range. Bleh. Some are even lower. Collectively, they show TWO possible types of things going on, one of which is restrictive lung disease of some sort; the other is some possible small airways-related disease (which means albuterol might help that). No obstruction, which is good, in part because it crosses off one area of concern off the list, but I still have two other areas of concern. I also did a follow up high-resolution CT (aka HRCT) on my lungs which showed no obvious inflammation or fibrosis (scarring) which is both really good news – nothing terribly wrong yet to the naked eye – but also frustrating because clearly there is something wrong. My doctor and I are both concerned by the level of symptoms, and my doctor managing my autoimmune condition has suggested that the lung stuff, whatever it is, is now a separate disease/on a separate path than the rest of my autoimmune disease activity, and it should be managed by a pulmonologist.

So we are still waiting until my pulmonologist appointment to get more answers (every specialist referral means another 6 weeks to schedule the next new appointment, stringing out the problem solving process over time), and in the meantime I try to do what exercise I can do. Which is still exercising every day, but slowly and with lungs that hurt. Some days with lower blood oxygen availability; some days with OK oxygen (as measured by SpO2). Some days also hurt more to physically breathe, and on those days that often starts from the moment I wake up before I’ve even sat up in the bed. I have not been running a lot, which makes me sad. When I do run, it’s not joyful most of the time, although I try to appreciate the ability to run at all on those ‘bad’ days and savor the few moments of joy on the few better days. Not because of my legs, but because of my lungs. Sometimes just walking, even super slowly, also sucks.  But sometimes, I can still ski or hike like I used to, and other days I ski or hike like a snail pushing its way through a sea of peanut butter (very slowly and usually with a lot of vocal complaining about it, when I can afford to catch and waste my breath on words to complain). I’ve had to shift my focus from training with a schedule and a plan to trying to figure out a list of what I can do on a “good lung day” (which is <50% of the time). On “bad lung” days, I just focus on moving at all, however seems feasible that day.

Meanwhile, it’s not just my lungs. At the same time the lung stuff developed, I also developed pretty serious and sudden joint pain. It particularly affects the vertebrae in my spine, hips, and upper spine between my shoulders and neck. Did you know you have ‘joints’ where your ribs connect to cartilage and your cartilage connects to your sternum? I’m re-learning some of the many places we have joints that we usually don’t pay much attention to. Heat helps, so I spend a lot of time sitting against a heating pad, which thankfully means the biggest areas impacted by this issue can get regular heat therapy. But it also will sporadically “pang” with pain in other random joints such as in my hand, the middle of my foot, a toe joint, or my shoulder. Oral NSAID does nothing for the pain, but when the pain is in easy-to-reach spots, topical NSAID gel does help some, as does the application of heat to those areas. It can get pretty problematic, though, to the point where rolling over in bed at night wakes me up taking my breath away because I rolled over and the joint pain in my spine was so painful it woke me up. (And thus I don’t sleep well those nights, which also stinks.)

What the joint pain, like the eyelids cycling in and out of inflammation, is telling us is: the inflammation is spreading in other parts of my body and my body is attacking itself elsewhere, too. My eyelids continue to swell, but now there’s also a red patch particularly outside of my right eye that provides a visual cue to Scott when my inflammation is particularly at peak. But the joint pain and the lungs collectively mean my fifth autoimmune disease is angry and kicking in protest, lashing out at the rest of my body. And we need to do something about that, and so we are.

Treating autoimmune diseases is not without risk due to the treatment itself. There’s the short-term risk of side effects and the long-term risk of side-effects. When autoimmune disease gets as problematic as mine is (attacking my lungs; the escalating joint pain); it warrants risking the side effects of the medication, even though it’s scary. Also scary is the knowledge that we are trying to tweak my immune system. Even though I know my immune system is *too* strong and *overreacting*, it’s what I know, and it’s scary to think about trying to turn it down, because there is the risk that it overshoots and turns down too far in the process of trying to take it down just a notch.

Ultimately, the first-line treatment my doctor and I chose is a mild version of immunosuppression, which is an immunomodulator designed to modulate only part of the immune system. This is more mild than what most people think of when they think of immunosuppression (e.g. to go with organ transplant), and while they don’t know exactly how it works, it seems like it causes an effect of turning down *part* of the immune system, but not all. (In theory.) While it’s not been very well tested in studies in my autoimmune disease (this is the story line through allllll the medical literature about my condition), there’s a “cousin” autoimmune disease for which there are a lot of studies and data showing it helps some people, and particularly has a good chance of helping the joint pain. However, the risk of negative outcomes is also not zero. In the medicine we decided was best for me, there is a risk of it accumulating in my retina and causing vision loss. Yikes. The risk in the first 5 years is about 1%, meaning that in people who take this medication every day for 5 years, 1 in 100 will begin to have vision issues. At the 10 year mark, however, this goes up, and 10% (10 in 100 people) begin to have vision issues. And the problem is, this vision damage is not reversible. Plus, the medication has a half life of months, meaning it takes time to ramp up, but also that if you start to notice problems and need to stop the medication, there is another set of weeks to months before the medication levels actually begin reducing in your body, so you get additional damage possibly during that time. As one might imagine, I am very nervous about this risk profile, but this possibly helps illustrate exactly how bad the situation is that I am in: this joint pain is not ideal for quality of life and it is a serious symptom of a serious problem, which is a rampaging immune system that needs to be treated.

While I am not currently fully immunosuppressed, it does mean that I am choosing to continue to be careful to limit my risk in exposure to infectious diseases. For me, that means continuing what I’ve been doing since early on in the pandemic: I am already using a portfolio of risk mitigation strategies including seeking better ventilated air in indoor spaces (using CO2 monitor); masking in any indoor spaces outside home (unless I am at family’s house where everyone confirms no symptoms, tests negative, etc); using portable air purifiers and far-UVC lights when feasible; getting vaccinated and boosted against all the infectious diseases I can, etc. That feels right for me, although it’s not necessarily what others might choose to do in my situation. But again, my risk profile not only includes 5 autoimmune diseases, for which we are trying to turn my immune system *down*; I also have some kind of lung disease now, with lowered lung capacity that is directly influencing my daily living ability. So I am happy to do all the easy things that I can to further lower the risk of hurting my lungs more, such as by limiting exposure to acute respiratory infections that could lead to all kinds of further issues and complications that I just don’t need or want to deal with. So, the biggest change is mostly to what I will continue to ask of family members, which is reporting any and all symptoms of any type of illness, even if it’s “just” a cold, because a “cold” to someone else is likely going to be a lot more serious to me, given my immune and lung status. Plus, too, I may end up needing to switch to a different level of immunosuppression, which further changes the calculation of short- and long-term risk of acute illness exposure.

I started the medicine a few weeks ago, and I managed to avoid the worst of the short-term side effects that cause people to discontinue it. In weeks 2 & 3, it seemed like it was helping reduce the joint pain. I got excited, but then very un-excited when the joint pain manifested again (along with re-swollen eyelids and the spreading red patch outside of my eye). I was hoping this medication would permanently depress the inflammation and systemic attacks, but instead, so far, it looks like it might slightly dampen the inflammation cycles (and thus symptoms), and they haven’t yet completely gone away. And my lungs continue to be problematic, which matches my doctor’s prediction so far that they will not be impacted by this medication and I need some ideas from the pulmonologist to treat my lungs.

So here I am. 5 (or 6) autoimmune diseases; still acutely aware of the stigma that comes with living with (so) many chronic diseases; entering new territory of immunomodulation; and possibly in the future, maybe needing more immunosuppression. I don’t have a lot of answers or even a good understanding of what is going on with my body (for example, what exactly the problem(s) are in my lungs), which is frustrating. More acutely, some days just stink either due to bad lungs or due to joint pain. When I get really unlucky, I have a bad joint day on the same day as a bad lung day. The challenge with bad lung days is that it impacts my ability to exercise, whereas my joint pain doesn’t keep me from exercising (because it’s no worse during exercise and sometimes exercise distracts my brain from the pain signals). So during bad lung days, some of my “treatment” options for the bad joint pain are reduced. Bad lung days also make me feel really fatigued and short of breath even sitting down doing nothing, so I have some days where I’m doing normal workloads of things I want to do, and other days where I’m doing less than I would like. I have been slow to respond to emails related to non-time-sensitive-projects because basically, I’m over here just trying to breathe, and that’s hard. So: sorry to anyone who’s read this who has happened to email me – consider this an auto-responder about why I have not yet responded.

Stay tuned for more posts: I’ll be using this framework to talk about exercise strategies for exercising with ‘bad lungs’ and strategies that I’ve found to be effective (see this post as an example for strategies) so far on the days where I’m struggling to breathe and exist but also want to exercise so I don’t decondition my body so I can do the things I want to do on the “good days”.

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If you’re a family member or friend who’s read this and wants to acknowledge what I’m going through but doesn’t know what to say – it’s ok. I don’t know what to say, either, which is in part why I haven’t said anything to most people! But it felt like it was time to start sharing some of what I’ve been going through. Feel free to send me a purple heart emoji (or a cat picture), no caption/text needed, and that’s an a-ok way to acknowledge that you’ve seen this. 💜

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PS – one of my friends described my lungs as “sad balloons” and for some reason, that analogy felt really appropriate to how they physically feel inside my rib cage. Sad, and ineffective. I gave ChatGPT some prompts to illustrate “sad balloon” lungs and ended up with these, which feels cathartic to illustrate.