The Identity Crisis of Rare Conditions

Living with a rare condition can profoundly affect a person's sense of identity, often prompting deep and complex questions about who they are, how they relate to others, and how they see their future. These effects stem from a combination of social, psychological, and practical challenges unique to rare conditions.

The Diagnostic Odyssey

The journey to a diagnosis is often long and fraught with uncertainty. This "diagnostic odyssey" can create anxiety, frustration, and a sense of instability. Not knowing what is happening to one's body, or what the future holds, can make it difficult to form a stable identity or plan for the future. Even after diagnosis, the unpredictable nature of many rare conditions can continue to fuel uncertainty and identity struggles.

Separating Oneself from the Rare Condition

People with rare conditions may find it difficult to distinguish their own identity from that of their condition, especially when the disease is chronic, visible, or requires ongoing management. This challenge is particularly intense during formative years, such as adolescence, when self-perception and identity are in flux. The condition can come to dominate how individuals see themselves and how they believe others perceive them, sometimes overshadowing other aspects of their personality or life.

Isolation

Due to the rarity of their condition, individuals often feel isolated—few people around them share their experience or truly understand it. This sense of being "different" can be most pronounced in social settings like school or work, where fitting in is important. The lack of awareness and understanding from others can lead to feelings of loneliness and exclusion, reinforcing questions about belonging and identity.

Stigma and Discrimination

Stigma and discrimination associated with rare diseases—especially those that are genetic or visibly apparent—can further complicate identity. Individuals may face negative attitudes or misconceptions, which can harm self-worth and lead to internalized shame or guilt. For those with genetic conditions, there may also be concerns about inheritance, family planning, and the fear of passing on the condition, all of which can deeply affect one's sense of self and future.

Intersecting Identities

Rare diseases do not exist in a vacuum; they intersect with other facets of identity, such as race, socioeconomic status, and family roles. These intersections can compound challenges and shape how individuals experience their disease and themselves within broader social contexts.

The Role of Community and Support

Despite these challenges, connecting with others who share similar experiences, whether through support groups or rare disease communities, can be transformative. Such connections provide a sense of belonging and help individuals see themselves beyond their condition, fostering resilience and a more integrated sense of self.

References:

1. EURORDIS. 2023. Webinar on ‘The impact of rare conditions on self-identity’. Accessed March 2025: https://www.eurordis.org/webinar-on-the-impact-of-rare-conditions-on-self-identity/

2. Belzer LT, Wright SM, Goodwin EJ, Singh MN, Carter BS. Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action. Children (Basel). 2022 Jun 21;9(7):933. doi: 10.3390/children9070933

3. Buckle N, Rogers Y, O'Toole D, McNulty S, Kroll T, Gibbs L, Somanadhan S. A qualitative exploration of children's lives with rare diseases. Child Care Health Dev. 2024 Jul;50(4):e13294. doi: 10.1111/cch.13294

4. Huyard C. What, if anything, is specific about having a rare disorder? Patients' judgements on being ill and being rare. Health Expect. 2009 Dec;12(4):361-70. doi: 10.1111/j.1369-7625.2009.00552.x.