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Redefining Normalcy within the Rare Disease Community

Updated: Dec 10, 2019

Societal expectations provide us with the framework as to how we are to behave and what we should expect of ourselves and of each other. These deep rooted expectations teach us to demand a certain kind of performance from other people that typically correlates to a predetermined mental picture of who we believe the person to be. This mental picture is manifested by countless years of conditioning and ultimately allows us the luxury of visually identifying others as being ‘acceptable’ and even ‘normal’…or not.

One of the consequences of being an active member of our society is conditioning. We have been conditioned to judge others by the way they look and act. Regardless of the popular phrase, ‘don’t judge a book by its cover’, a majority of us have been conditioned to do just that. When a person looks different or behaves in a way that another individual doesn’t perceive to be ‘normal’, a sense of discomfort tends to ensue. Rather than a wave of curiosity, like that of a young child not yet conditioned to perceive ‘normalcy’, rejection becomes the initial impulse. This is largely because society instills within us the idea that an individual’s compliance with set norms and standards cultivates that individual’s level of ‘normalcy’ and whether or not he or she will be accepted into the larger group. When faced with a rare disease, societal norms become an inconvenience.

So the question of the day is: What does ‘normal’ mean to the rare disease community?

While some people actively choose to reject conforming to the norm, rare disease people don’t typically get to make that choice. Rather, rare people, more often than not, have to learn to accept not fitting into the norm, and rise above isolation, misunderstandings, health care barriers and constant social obstacles.

Learning to be comfortable with oneself outside of the norm is a journey most individuals within the rare disease community must take, marking the beginning of the development of a unique internal strength found within so many individuals from the rare disease community.

What makes having a rare disease so different is the fact that most people with rare conditions have a difficult time fitting into social molds. Regardless of this tendency towards existing outside of the box, members of the rare disease community are extremely valuable members to a society that still struggles to accommodate for its differences and unique needs to this day. The rare disease community has unified as a tight knit community of over 30 million people, in the US alone, with their own set of shared norms.

Normal for the members of the rare disease community (patients, caregivers, healthcare professionals, and researchers) involves learning to be a consistent problem solver. In the world of rare diseases, when one problem is addressed, another problem tends to arise. Patients and their caregivers know all too well the meaning behind rolling with the random side effects that may come with experimenting with various medications that “might” help. And this is just the tip of the iceberg. Regardless of not fitting into the general normal, rare disease people can still color the vast expanse of the sky with a myriad of experiences of growth through isolation and misunderstandings.

The rare disease community is not only several million strong, it’s growing at an exponential rate. The need for appropriate quality health care engenders inequalities and difficulties in access to treatments and medical care. This often results in heavy social and financial burdens on patients and their families. But more and more caregivers and patients are taking the reign and either funding or heading research studies themselves in order to fill the gaps in scientific knowledge and to improve the quality of information on their disease-specific condition.

One unique norm that everyone in the rare disease community has acquired is the consciousness that every day may be the last. This heightened sense of awareness for the value of each day keeps rare disease people focused on learning about the complex biological pathways in our cells/bodies that work to keep our bodies functional and find treatment options (and even cures) for the various dysfunctions that may take place to either down-regulate or up-regulate these complex biological systems.

The rare disease community is a group of people that are driving the science and medical industries to reveal the mechanisms of human physiology and health. And as the individual disease-specific communities grow and connect with each other, these passionate people will collectively bring data together to make all the discoveries and information useful for better medical interventions and diagnoses for conditions that affect the general population as well. The rare disease community is a special FAMILY of passionate people facing life and death every day and investing in basic research, applied research, and product development…aka the future of science and medicine.

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