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?