The Precarious Position of Those Diagnosing Rare Diseases

Last week, I was browsing research articles on NCBI and NIH using the key terms dropped at my most recent medical appointments. I began by searching for “mitochondrial dysfunction” and “maximal oxygen consumption deficit,” and then quickly descended ever-deeper into the rabbit hole. I ended my search on a book excerpt that has stuck with me for several days.

After going from doctor to doctor, I tried to think of how the doctors must have felt…. This is what I think: “This woman is presenting this odd disease that no one knows how to treat, obviously no cure for, and she and her husband are sitting here looking at me all moon-eyed desperate for help with this dilemma they have been blind-sided with. What am I to do? … There simply are no set standards for this, I’m as helpless as she is, yet she has come to me asking for my help.” — Nutt, 2007

I have been extremely frustrated over the past few years and, particularly, the last several months. I have been referred from one specialist to the next, I’ve undergone extensive (and expensive!) testing, and I’ve endured rough (and ineffective) treatments.

Each week, I visit another doctor and plead with them to explain what is going on with my body. I beg them to make everything better.

Perhaps the truth of the matter is that they truly don’t know what’s wrong, nor how to fix it the undiagnosed ailment. Walking into each new appointment with doe-eyed optimism and 42 pages of lab results offers no guarantee of a cure, nor even a conclusive diagnosis.

Just because these caring doctors have been trained in medicine, it doesn’t mean they understand my unique presentation. Despite being the leading global experts on my original diagnosis, it doesn’t mean the doctor has seen a case identical to mine. It feels as if I’m desperately chasing breadcrumbs, while they approach the same uncertain situation with calculated rationality.

What more can they do, really?

My father-in-law looked over my PET/CT scan earlier this week. He manipulated the digital black and white picture of my insides–rotating my 3-D form, while zooming in and out. After a through look-over, he assured me that there was no active valley fever infection in my body. The only evidence is was ever here is a large calcified nodule in my right lung.

In an appointment yesterday, infectious disease doctor #5 suggested that the excessively high cocci antibody levels are probably a red herring. “Something else is going on,” she suggested, “and I just want you to be aware going into this… you might not like what we find.”

“I just want to feel better,” I responded, with an odd blend of optimism and resignation, “and I’ll do whatever it takes to get there.”

The current theory is that my initial infection nearly four years ago broke something in my body–my cells are throwing on their armor each day and roaring out into battle, aiming to defeat an enemy that has long since retreated. I guess after all of these years of internal warfare, my body wore itself out.

Putting myself in my physicians’ shoes over the last few days has brought about some new realizations. Moving forward, I hope to keep two particular lessons in mind.

Firstly, we are all unique, and this includes the presentation of bodily disease. I can’t blame my doctors for being perplexed by my case, because they are likely feeling just as helpless and confused as I am.

Secondly, healthcare providers have chosen their profession because they want to help people. I need to trust that they are doing everything they can do to support my proper diagnosis and recovery. The weekly blood tests, repeated diagnostics scans, and being bounced around from one specialist to another is not an attempt to get rid of me, but rather to give me the best care possible.

Over the last week, I have been feeling increasingly more gratitude for my doctors. I can see in their eyes that they really do care. They want to help, but aren’t quite sure how. And, as they look into my eyes, I’m certain that they see a young woman who is tired, lost, and waiting for someone to tell her, “we’re going to get you feeling better; you’re going to be okay.”

But they can’t yet speak those elusive words because they don’t know whether they are true. I might not get better. Things might not ever be okay.

We are both, ultimately, in a similar position: uncertain and helpless, yet hopeful and stubbornly persistent.

We don’t have an answer now, but we’ll get there, and we’ll do so together.

5 thoughts on “The Precarious Position of Those Diagnosing Rare Diseases

  1. Being a physician is hard, and despite the increasing vilification of medicine, it sounds like you are developing trust and a good relationship with them. That’s good. After all, this will be a journey and you don’t want to embark on it wanting to push people out the car. Always sending you good vibes and maybe even answers very soon! ❤️


    1. Yes! Recently, I’m learning that I have the choice to ask people to step out of the, so I can invite someone else in. It’s been liberating to look at my doctors and choose the ones that I feel are a good fit, and then let the others go. Through my selective choosing, I think I’ve found some good allies for the journey, and I suspect my answers are just around the corner. 💖

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