This page is part of the Standard Personal Health Record (v1.0.0-ballot: STU1 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. . For a full list of available versions, see the Directory of published versions

Marcella

Marcella

Diagnosis and pathway to care for a complex, poorly understood chronic illness

ⓘ This narrative is a work in progress, and we have added Gail Shchumm as a temporary place holder until we generate an endometriosis patient.

Narrative History

Marcella is a 34-year-old Black Caribbean-American woman who is employed as a middle school science teacher. She has a long history of problematic health symptoms related to digestion, pain, and inflammation, which fluctuate, especially around parts of her menstrual cycle. Marcella has been frustrated by how often doctors dismissed her symptoms and her account of her health. She began to collect and organize her own health data as a way of providing concrete data to discuss with doctors. She also conducted independent research, which helped her understand her health experiences and investigate whether different self-management strategies work to reduce the chronic and progressive pain she has been experiencing. After seeing a series of providers over several years, she was able to successfully use her PCD to advocate for and secure an endometriosis diagnosis. Now she wants to use what she has learned from her data and research collaboratively with her care team to inform care of her chronic illness and figure out a treatment plan and management regimen that works for her and meets her main goal to reduce her chronic and progressive pain.

Marcella’s symptoms started around 14 years of age with painful periods and gastrointestinal (GI) distress; she was diagnosed with irritable bowel syndrome (IBS) at age 18 and began a medication treatment regimen that has helped somewhat (e.g., with emptying bowels). At 24, she was diagnosed with Hashimoto’s disease (autoimmune disorder of the thyroid) and began treatment, which addressed several additional symptoms (e.g., constipation and dry skin). But some of her symptoms persisted (e.g., painful periods, GI distress during menstruation), and progressively over the past 6 years, new symptoms causing increasing distress have started (e.g., pain with sitting, pain with tight clothing, pain associated with sex, tingling and numbness in legs). Her mother and grandmother, who both had debilitating periods when they were younger, with the grandmother needing an emergency hysterectomy at 35 due to uncontrollable bleeding, assured her that painful periods are normal for their family and that she might be exaggerating her discomfort.

As her symptoms intensified around age 28, Marcella began to suspect endometriosis as the cause of her symptoms. She started conducting independent research, engaging with online health communities, and tracking her own health experiences, which all pointed to endometriosis as the likely cause of her symptoms. She talked to both her primary care provider and general gynecologist about her concerns, but neither gave much weight to the patient’s report of symptoms or her ideas about what was causing them. Following a trip last year to the emergency department (ED) due to pelvic pain, she received a diagnosis of polycystic ovary syndrome (PCOS) that was later determined to be incorrect because she doesn’t have the associated features of the disease (i.e., she has painful, heavy periods and bloating that are features of both PCOS and endometriosis, but not long, irregular, anovular cycles, symptoms of hyperandrogenism such as excessive hair growth, or indications of polycystic ovaries). Unbeknownst to Marcella, doctors also recorded a general anxiety diagnosis in her record, probably due to unresolving symptoms and documented it in her chart, but failed to mention this diagnosis to her. These incorrect diagnoses documented in her record make accessing care more difficult, and there is no mechanism for her to correct the record or accurately narrate her own story. Recently, her debilitating pain and GI symptoms have been progressing more rapidly, resulting in 3 trips to the ED in the last 6 months. In an attempt to mitigate her symptoms, her independent research and community discussions helped her decide to try various things, such as, over-the-counter pain medications, hormonal contraception, and various self-management approaches (e.g., cutting dairy out of her diet, hip stretches, tens machine), which were only somewhat effective.

Marcella first collected and used PCD to understand and monitor her health status, then started using her data to support her self-experimentation with treatments and management strategies. Ultimately, Marcella sought to use her PCD to advocate for a diagnosis that aligned with her lived experience of illness. Marcella’s frustrating six-year process of seeking a diagnosis involved seeing at least six clinicians before a new gynecologist finally attended to her concerns and thought she might be right after looking at her data summaries, leading her to provide a referral to a specialist who was able to order the necessary tests. Marcella’s PCD was critical in advocating for and securing a diagnosis that fit her experience of illness – endometriosis. Now she plans to use her PCD to help establish an approach to treatment and navigate the patient-provider relationship. She is also always wary of being labeled as a difficult patient, since she has developed independent expertise, follows a self-directed, personalized management plan, and engages in extensive self-tracking. In a recent ED visit, one of the doctors treated her as a drug-seeker, which deepened her distrust of the formal healthcare system. Full detail into the PCD used and shared with providers can be found in Table 10. A summary of the PCD she has used to understand and manage her condition, both independently and together with her providers, is presented below.