Publication date: 26 Apr 2020
Besides physical and medical challenges, rare disease patients frequently confront social obstacles similar to those experienced by more commonly recognized minorities. Being “different” can mean becoming categorized into stereotypical classes with ambiguous connotations. Acknowledging health issues and physical limitations can be beneficial in promoting empathy and a community environment that is universally accessible. On the flip side, the same medical issues can seemingly cap human potential as society underestimates the abilities, needs and aspirations of those with rare diseases. At school, at work, at home and in dealing with institutions, navigating through a forest of obstacles to strike a proper balance between wanted support and unwanted discrimination is not easy.
Rare diseases are varied in prevalence and severity. Some are debilitating, some are barely noticeable, some may take many years to develop and some can be effectively controlled. Consequently, there are no simple rules or policies that can address all patient concerns. Experiences from real patients communicated to RareShare can help further broader understanding.
When children with special medical conditions attend school, there may be some obvious needs pertaining to mobility, accessibility and communication that must be addressed. Increasingly, there can be technological solutions. Motorized wheelchairs and the use of computerized aids can open the door to participation in school and learning. Interactions with peers and acknowledging human diversity may be an invaluable part of the social curriculum that enriches the experience for all, and perhaps the most effective way to promote understanding and counteract bullying.
Higher up the educational ladder at the college level, the challenges may become more philosophical or a test of willpower. “Why am I doing this?” or “Do I really belong here?” may become the most common questions. Through extraordinary determination, rare disease patients do progress to the highest levels of academia, despite limitations in access from policies and biases. In a competitive environment, any perceived special treatment is subject to challenge, however, as demands for a level playing field may predominate discussions. Success may depend on both steadfast persistence as well as ability.
Similarly, rare disease patients, who are able, want to participate in the workforce. Entry and staying in the workplace can prove difficult if accomodations need to be made. Many patients need extra time to address medical needs such as meeting specialists and getting treatments. In many instances, patients end up leaving their jobs voluntarily or involuntarily to care for themselves. Parents of children with rare diseases undoubtedly face the same issues.
Navigating institutional challenges can be nerve wracking as playing by the rules often ignores the urgency and downplays the severity of some rare disease conditions. Obtaining an accurate diagnosis generally takes years, as finding a knowledgeable healthcare provider is not as simple as seeing the family doctor. Mobilizing bureaucracies to take appropriate actions under non-standard circumstances requires perseverance. Access to the latest genetic diagnostic tools is rapidly expanding, but not readily available to all who can benefit from them. Even with a diagnosis, finding a treatment that helps or actually addresses the underlying disease is not certain. Needed scientific breakthroughs may be years away and of little immediate help. Payment of medical expenses is not guaranteed, as insurance providers often have lifetime limits and there are many who lack any coverage at all. Even at a governmental level, there is a value proposition that asks if expensive specialized treatments for rare diseases are more beneficial than treating a larger group of patients with common diseases. For the most part, rare disease patients and families must navigate the maze of institutional rules on their own.
Rare disease patients depend on family and friends for essential social support. This is important even in simple social situations such as going to a restaurant or movie, where bystanders may not display exemplary understanding and tolerance. While young children generally have parents, siblings or other family members to provide support, this safety net can become challenged as parents age, relatives tend to their priorities and the level of unrelenting involvement becomes too much to bear. Yet, there are many examples of rare disease parents fighting through enormous obstacles on behalf of their kids and even founding disease-specific organizations to help find a cure.
Friendships keep us all well-grounded. For many patients, empathetic and understanding friends who provide unwavering support through good and bad times are a key of life. Patients and families draw strength in finding and maintaining such friendships. And yes, for patients beyond childhood, romantic relationships and possibilities cannot be ignored. For friends who are fellow patients, special bonds of understanding can be forged. In the current age of instantaneous communications, the opportunities for making new friends is enormous and distance may not be a factor.
So what can be done to improve things? As social barriers are man-made, they ultimately can be changed by people. Education helps build understanding, empathy and support. The recognition that we’re all unique and there are no “normal” set of expectations and aspirations that apply equally to everyone is a starting point. With this perspective, we can celebrate the diversity that enriches the human experience. To move towards such an ideal, the adage that there is strength in numbers comes to mind. Rare disease patients and friends can band together to speak a common voice. Isolated patients and fragmented rare disease communities can be united to a broader purpose. Ultimately, this includes the promotion of research into the underlying biology of rare disorders that can ultimately lead to more effective treatments. RareShare.org recognizes that it is a vehicle for accomplishing some of these objectives, and consequently, seeks greater participation from current and future members. In addition, many disease-specific organizations and advocacy groups exist to advance many of the same goals. Adding your voice can help inspire hope and improve the lives of many.
We are in the midst of a medical revolution where diseases can be understood at a molecular level. Rare diseases can help decipher the relationship between genes and their biologic function, as genetic variants can be associated with physiological effects. The door to precision treatments unimaginable years ago is opening. With a unified purpose and persistence, effective therapies and cures will come, if not for those immediately affected, then for future patients. Hopelessness and despair are unsustainable approaches in dealing with rare diseases.