“If not me, who?” - Awareness, Stigma, and Advocacy Experiences Among Adults With Rare Disorders

Q: How do low awareness levels contribute to challenges for adults with rare disorders?

The document links lack of rare-disease awareness to diagnostic odysseys, limited treatment options, and increased stigma that negatively affects quality of life.

Q: What does the document identify as the main effect of stigma?

It describes enacted stigma leading to anticipated and internalized stigma, resulting in negative impacts on quality of life.

Q: What study methods and participant groups are used to gather advocacy experiences?

The research includes Study 1 with two WebEx focus groups (nine total participants) and Study 2 with eighteen advocate interviews conducted via Zoom, with aggregated demographic reporting.

Aug 27, 2026

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Rare diseases affect fewer than 200,000 people in the U.S. yet remain collectively pervasive worldwide, with thousands of distinct conditions and a large share of the population living with rare disorders. The work details common barriers driven by low public awareness: difficult and time-consuming diagnostic journeys, limited treatment availability, and stigma that manifests socially and internally, harming quality of life. Findings draw on two WebEx focus groups and eighteen Zoom advocate interviews describing lived advocacy experiences and demographic context.

LanguageEnglish

CategoryResearch & Report

FormatPDF

Pages27

Reading Time1 h 8 min

AccessFree to download

Background

Rare diseases and collective impact

Common challenges: diagnosis, treatment, stigma

Study 1: Two focus groups

Participants

Study 2: Eighteen advocate interviews

Demographic characteristics

“If not me, who?” Awareness, Stigma, and Advocacy Experiences Among Adults With Rare Disorders Emily F . Plackowski & Kathleen R. Bogart “If not me, who?” Awareness, Stigma, and Advocacy Experiences Among Adults With Rare Disorders Emily F . Plackowski & Kathleen R. Bogart Background Rare Diseases, Disorders, or Disabilities (RDs) • Affects < 200,000 people in U.S. = RD (Rare Diseases Act of 2002, & Orphan Drug Act of 1983 (Section 526)) • ≈ 7,000 different RDs • Affect 1 in 15 people worldwide (de Vrueh et al., 2013) • RDs are Individually Rare, but Collectively Pervasive Lack of RD Awareness → Common Challenges* Diagnostic Odysseys ▪ It is difficult and timeconsuming to get correctly diagnosed with an RD.(Black et al., 2015; EURORDIS, 2007) Lack of Treatments ▪ Only 5% of RDs have any FDAapproved treatment option. (H. Res. 1154, 2018) Stigma ▪ Judged, socially devalued, excluded, marked as other or different. (Bogart et al., 2018; Kurzban & Leary, 2001; Zhu et al., 2017) ▪ Enacted stigma → anticipated & internalized stigma → negative impacts on quality of life (Earnshaw & Quinn, 2012) * (Bogart et al., 2011; Bogart, 2015; Bogart et al., 2018; Kurzban & Leary, 2001; Orphanet, 2019; Zhu et al., 2017) Study 1: Two Focus Groups (WebEx) Participants ▪ Pool = AWaRDS Phase 1 participants ▪ All had/have RDs ▪ 9 total ▪ 5 Male, 4 Female ▪ 7 “White,” 2 “Black or African American” ▪ Median household income: $30,001- $45,000 per year Study 2: Eighteen Advocate Interviews (Zoom) | Demographic Characteristic | Aggregate Data | | --- | --- | | Age | Age Range: 21-73 years
Mean Age: 42.61 years | | Gender Identification | Female: 10
Male: 6
Other: 2 | | Ethnicity and/or Race | Black or African American: 2
White / Caucasian: 12
Identified as Multiple Categories or “Other”: 4 | | Household Income Bracket | Median: $45,000-$60,000
Mode: $90,000 and above | Demographic Characteristics of RD Advocate Interviewees RDs Represented by Participants in Studies 1 & 2

FAQs

How do low awareness levels contribute to challenges for adults with rare disorders?

The document links lack of rare-disease awareness to diagnostic odysseys, limited treatment options, and increased stigma that negatively affects quality of life.

What does the document identify as the main effect of stigma?

It describes enacted stigma leading to anticipated and internalized stigma, resulting in negative impacts on quality of life.

What study methods and participant groups are used to gather advocacy experiences?

The research includes Study 1 with two WebEx focus groups (nine total participants) and Study 2 with eighteen advocate interviews conducted via Zoom, with aggregated demographic reporting.

Aug 27, 2026

Upload by Quinn