Experiences with Delayed Diagnosis for Older Adults with SCD: "Looking Back It All Makes Sense"

Background

Improvements in care over the last 50 years have extended the median lifespan of people living with sickle cell disease (SCD) from 14 years to as long as 61 years in cohorts from academic centers. Older adults with SCD have decades of unique experiences; from navigating their initial SCD diagnosis to coping with complications of SCD as an older adult. The purpose of this study was to describe the impact of delayed diagnosis of SCD on older adults (age ≥ 50 years).

Methods

We enrolled 19 older adults with SCD from a single comprehensive sickle cell center. We conducted semi-structured interviews by phone or in person. A single interviewer asked open-ended questions about the participant’s experiences living with SCD during childhood and adulthood. Participants described their experiences being diagnosed with SCD, how they navigated healthcare systems, and their strategies to manage and prevent pain crises. Interviews were audio-recorded and transcribed verbatim. We used conventional content analysis to code the transcripts.

Results

The mean age of participants was 58 years (range 50-71). Over half (53%) had HbSS genotype, 37% had HbSC, and 11% had HbSβ+-thalassemia. Almost half (45%) were hospitalized and 63% had an emergency room visit in the last year. Most participants (84%) were on short-acting and 37% were on long-acting opiates. The majority (58%) reported current use of hydroxyurea.

In theme 1, many participants described growing up with an unknown illness prior to their SCD diagnosis. Participants discussed having pain episodes but not knowing they had SCD. Their symptoms were often dismissed as “growing pains” or “bone pain”. Participants stated how not having a diagnosis as a child was hard on their parents and they had to see various specialists or travel to academic centers to finally receive a diagnosis. Participants shared stories about how they were diagnosed with SCD (Figure 1).

Participants discussed positive aspects of not knowing they had SCD. They described how their parents allowed them to do activities and pursue ambitions without limitations since they were unaware they had a life-limiting condition.

In theme 2, participants described the impact of having providers with limited knowledge about SCD. They described challenges having limited access to treatments for pain before and after their diagnosis of SCD. They discussed how doctors were not as empathetic in the past as they are now. Doctors were more likely to stigmatize them as being “drug-seekers”. Some participants stated they still felt “hurt” by how they were stigmatized and remain “very afraid” to seek care in their local hospitals for fear the providers were not knowledgeable about SCD.

They recalled difficulties accessing pain medications as children and young adults due to providers’ reluctance to treat them. These challenges led them to develop alternative coping strategies aside from opioid medications. Many older adults used therapies such as warm compresses, heating pads, prayer, meditation, healthy eating, proper hydration, and avoiding factors like overexertion and weather extremes. Later in life, these older adults also were more inclined to seek out alternative therapies such as acupuncture, physical therapy, aquatic therapy, and biofeedback to manage their pain.

Conclusion

Older adults in this study lived for many years not knowing the cause of their symptoms and how best to treat their illness. While delayed diagnosis of SCD is now rare in countries with universal newborn screening, there remains many undiagnosed people with SCD around the world. This delayed diagnosis leads to unnecessary pain and suffering for patients and their families. Participants expressed their frustration with the medical community for their lack of knowledge as to the source of their pain, their dismissive nature of said pain, and their undertreatment of these symptoms. This study highlighted the need for providers to really listen to patients and their families and take their symptoms seriously. There is much to be learned from older adults about self-management of SCD and much work to be done to repair relationships that have been broken due to mistreatment of this population by healthcare providers. In ongoing studies, we partner with older adults with SCD to increase knowledge and develop management strategies, similar to those used in geriatrics, to improve care for older adults with SCD.