Written by Kendra J. Bjoraker, Ph.D., L.P.
Living well with a chronic condition such as Fabry can seem contradictory. Following diagnosis, you don’t have a shelf in your mind that has the words “Fabry disease” written on it. Instead, you build that shelf over time through knowledge, acceptance, advocacy and self-efficacy. Chronic illness presents many challenges to adjustment on both the individual and family levels. Psychosocial adjustment plays a reciprocal role in the course, treatment and management of a chronic illness, which ultimately bear upon a person’s quality of life. It is critical that people living with Fabry disease receive and understand information related to the psychological and social (psychosocial) impact of their diagnosis. Although some individuals might experience relief after finally receiving a diagnosis, feelings of anger, uncertainty, fear, and shame often must be addressed. Gaining a better understanding of the psychosocial issues related to Fabry can help people adopt the tools they need to begin describing themselves as individuals rather than defining themselves by their illness. Processing and exploring issues with the goal of recognizing the challenges associated with Fabry disease and learning how to overcome them can provide a normalizing and gratifying opportunity to be happier and enjoy more success. An important way to cultivate success is to spend time finding your purpose and celebrating what makes you an individual.
Quality of life is subjective, ever-changing, and multidimensional. It encompasses cultural perspectives and values as well as personal expectations and goals that influence what we hope to achieve in life. When managing Fabry disease, taking steps to care for mental and social well-being is just as important as the care reserved for physical health. For many people, learning how to accept and regulate negative thoughts and emotions about Fabry disease involves grieving over the loss of the life they knew before diagnosis. At first, people may not initially label this transition as “grief” as it typically pertains to losing someone. However, when living with Fabry, healthy grieving is an active adjustment and readjustment process. It often involves a series of tasks that need to be completed, not necessarily in sequence.
Finding a purpose can greatly contribute to improving quality of life as it can create a lasting sense of meaning that helps people living with Fabry disease build community connections, support others and develop confidence while partaking in the activities they love. A meaningful life connects us to a larger sense of purpose and value, allowing us to make positive contributions not only to our own personal and spiritual growth, but to society as a whole. The journey to find your purpose should be guided by wise actions and provide a sense of constructive direction.
Viktor E. Frankl, (1905-1997) an Austrian neurologist, psychiatrist and Holocaust survivor said “For the meaning of life differs from man to man, from day to day and from hour to hour. What matters, therefore, is not the meaning of life in general, but rather the specific meaning of a person’s life at a given moment.” Liberated after several months in concentration camps, Frankl believed that people are primarily driven by a “striving to find meaning in one’s life” and that it is this sense of meaning that enables people to overcome painful experiences. This message is especially important for people living with Fabry disease as finding purpose can provide clarity when facing emotional challenges.
Importantly, people cannot go through tough times alone, particularly when they are diagnosed with a rare genetic condition. The way individuals with Fabry disease react to their diagnosis depends on many factors, such as how involved their condition is, the social support that is available to them and their individual personalities. The collective wisdom gained through consulting with experts is essential to finding the information and support needed to overcome obstacles associated with Fabry. When facing issues alone, it is often too easy to give up when the going gets tough. By surrounding yourself with others working toward similar goals, you can find the motivation to push yourself just a bit further than you would have done on your own. On those days when you most want to give up, you need to lean on your community. They believe in you. They inspire you.
Even in modern Western society, which is often branded as individualistic to its core, the imperative of social connection is acknowledged in cultural works of all kinds. “People who need people,” wrote lyricist Bob Merrill in 1964, “are the luckiest people in the world.” Whether we are single, married, old, young, male, female; regardless of race, culture, or any other delineation, we are all in the same boat: human social interaction is key to our survival. It would seem, then, that people who need people are not just the luckiest people in the world, or even just the happiest people. They are the only people. They are all of us.
About Fabry disease
Fabry disease is a rare X-link inherited lysosomal storage disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells. Characteristic features of Fabry disease include episodes of pain, clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat; cloudiness or streaks in the front part of the eye; problems with the gastrointestinal system; ringing in the ears; and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart issues, and stroke. Some affected individuals have milder forms of the disorder. Individuals with Fabry disease are also at a higher risk for psychological challenges, particularly depression and anxiety. This is a common manifestation when living with a chronic condition.
About The Author
Dr. Kendra J. Bjoraker is a pediatric neuropsychologist with specialized training and expertise in rare genetic and neurodegenerative diseases. She served as faculty at the University of Minnesota and at the University of Colorado-Denver/Children’s Hospital Colorado. She participated in the neurometabolic, neurogenetic and neuromuscular clinic care teams. Dr. Bjoraker is known nationally and internationally for her expertise in lysosomal storage diseases and other inborn errors of metabolism and neurodegenerative diseases. She is a presenter, researcher and consultant with extended publications in rare genetic diseases and experience in clinical trial development. Dr. Bjoraker is a consultant in Minneapolis, Minnesota.