It’s Complicated
Visualizing complex health histories & symptoms for two patients with rare and mystery conditions
I recently worked with a smart, well-spoken patient, E., to put together a visual summary of her health.
Unlike many others I’ve worked with, she was not looking for answers or a new diagnosis; she was motivated because she was starting the application process for a new service dog, and she needed to demonstrate her physical constraints and daily needs. She also had a complex medical history, with multiple chronic conditions, injuries, surgeries and procedures, and she wanted to see everything in one place for the first time.
I went through my standard process of gathering her information, talking through her story with her, and creating visuals to represent the conversation. I then created a detailed timeline and symptom map, with an emphasis on her two longstanding conditions, Cryoglobulinemia and Ehlers-Danlos Syndrome (EDS). Both of these conditions are considered ‘rare diseases’ — meaning each one affects fewer than 200,000 Americans at any given time.
A quick aside with some definitions: Cryoglobulinemia is the presence of abnormal proteins in the blood, and symptoms often include skin lesions and purple spots, joint pain, peripheral neuropathy (in other words burning or tingling in hands and feet), and more. EDS is a connective tissue disorder “generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility” (source: Ehlers-Danlos Society website).
In addition to these two key diagnoses, E. also had Dysautonomia, an issue with her autonomic nervous system that causes fast heart rate, lightheadedness on standing, inability to regulate sweating, and more.
All together, these three conditions caused E. a whole host of symptoms and injuries, many stretching back to her childhood. She’d had six broken ankles between age 10 and 15; at one point both of her ankles were broken at the same time. She estimated she’d had close to 50 surgeries since 1985. It was a lot to look back on, and it made for a very full timeline, as you can see below (most words and dates removed for privacy).
We also put together a map of her symptoms on a body shape, something I do with many patients. This helps illustrate the extent and complexity of her symptoms:
What did we learn?
Dealing with surgery edge cases
I had to modify the timeline design to accommodate her 50 surgeries; with other patients, I’d classified surgeries as ‘treatments,’ since most people I’d worked with just had one or two. In this case, I decided to break them out into their own swim lane to give them space on the canvas.
40 years to diagnosis — that’s not cool
While her Cryoglobulinemia diagnosis was fairly immediate after her symptoms began, her EDS diagnosis took 40 years. After a lifetime of broken bones, joint issues, and surgeries, she was finally diagnosed in 2016 at age 45.
It seems outlandish and unacceptable that her diagnosis took so long — though I know from working with other EDS patients that they have experienced similar delays. But seeing the visual progression of surgery after surgery on her timeline makes the pattern pretty clear. How could this be missed, or misconstrued, for so long?
I think these types of delays in diagnosis — which often go hand-in-hand with incorrect psychiatric diagnoses (it’s all in your head), general disbelief or mistrust of patients, and being shuttled from specialist to specialist in a never-ending runaround — are a major reason why chronic patients sometimes give up on the healthcare system. Another EDS patient I worked with, C. described having post-traumatic stress caused by the medical system; and instead of trying to fight her way through it, in her weakened state, she simply opted out. Even though, for C., it meant being mostly unable to work or even stand up most days. It’s distressing for me to see people reach this breaking point.
While I wonder if visual health histories could help patients with rare or mystery health conditions get diagnosed sooner, unfortunately there are no great treatment options for EDS patients. So they often continue to bounce around in a system that doesn’t really know what to do with them.
When a symptom map is more useful than a timeline
Since E.’s primary goal was to use the visualizations to communicate her day-to-day physical constraints to a service dog program, she told me that the body shape with symptoms on it was probably going to be more useful to her than the timeline. Here it is again:
We did a zoom-in on her arms, as hand weakness and dexterity issues were a big reason why she needed a service dog:
This allowed E. to present her day-to-day struggles and advocate for getting help. While I have been recently more focused on timeline representations, it is helpful for me to keep in mind that sometimes, the timeline can be ‘TMI’ for the patient’s purpose, and the symptom/body map can be more effective.
This was actually the case with another patient I worked with recently, R. Her health history was both dense and immense. Over the years, R.’d had a number of accidents, injuries, and strange symptoms over the years, most disturbingly a series of progressive neuropathies that traveled in waves over her body. Like with E., we put together both a detailed timeline and this symptom diagram:
When R. brought both documents (timeline and symptom diagram) into a new primary care doctor appointment, she noticed that the doctor was more fixated on the body; seeing how the neuropathy patterns were distributed was helpful in determining next steps. R. said, about the visit:
[The doctor] gravitated to the body image and the fact that a lot of things are happening on my left side of the body. She requested a bunch of blood work, including ANAs and other inflammatory markers (which no one has ever called for) and called for an EMG (never done). I also got a referral to rheumatology and neurology.
So, I think a success and your tools facilitated a quick ask on the test and procedures that I wanted to have done.
In R.’s follow-up Neurology appointment, her doctor used both the timeline and symptom map:
I felt completely listened to, and he definitely tailored the diagnostics around the information he gained, particularly from the graphics…in 20 years of presenting neurological symptoms to doctors and banging my head against the wall, I am finally getting the right tests to hopefully get a diagnosis (and hopefully stop being in pain and fearing the onset of more serious diseases).
This is in contrast to how utterly dismissive the last neurologist was, unwilling to listen to my history of symptoms, and only wanting to look at current symptoms, which of course was an incredibly incomplete approach. The graphics opened many doors that doctors had refused to open and enabled me to feel more heard.
Back to E., who is still in the process of applying for service dogs: her life is continuously interrupted by her health. She was out of contact for awhile, due to yet another surgery. I just heard from her, and she’s ‘digging out’ after recovering for awhile; she said, “I have once again started to work on my applications for service dog schools and my timeline & body map will be at the forefront of my packet.”
I’m grateful as always for the opportunity to learn from working with patients like E. and R., and thankful that they allowed me to share snippets of their stories here with you.
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