Marfan syndrome (MFS) is an example of a chronic illness with acute episodic periods. What makes it a chronic illness is its long lasting nature, which means instead of “curing it” you “manage it”. However, there are times when a person with MFS may need immediate or emergency care that if not received can result in death. A dissection or aneurysm in the largest vessel of the heart, the Aorta, is the most likely cause for this. There is no denying the stress, fear and pain associated with heart trouble, however, I find that there is such an emphasis on the dissection/aneurysm aspect of MFS, that sometimes the everyday chronic nature of illness is not explored enough by doctors and researchers.
Since one of the cardinal features of Marfan syndrome is issues with your heart, there can be a great deal of uncertainty in living with this illness. I felt this uncertainty long before I could name it. As I came into my teen and young adult years, I would find myself having panic attacks over trying to “read my body” for signs of potential heart trouble. It took a long time for me to control my anxiety over this. It has required a combination of coping strategies: therapy (CBT, Mindfulness etc.), feedback from my body, health team and family as well as the confidence I’ve developed in myself to trust my intuition. Finding sociological literature that discusses uncertainty in illness has also helped me a great deal in putting into words what I’ve felt. Fear is a powerful thing.
Marfan syndrome is a highly medicalized disorder that lacks social research. Most of what you will find written on MFS is about symptoms, physical manifestations of the disease, clinical trials for medication, new surgery techniques, clinical genetics and research etc. These topics are of course important, but I would argue that a lack of research exploring the experience of people living with MFS is detrimental. It may just be me, but while living with MFS I cannot help but feel, at times, that my whole self is medicalized: my physical appearance, my empathy, my intelligence.. they all stem from my illness. It is difficult to incorporate an illness into your identity when your social world views your illness as pathological and negative. This requires much more than “psychosocial adjustment to MFS”, but a deeper look at how illness is experienced for diagnosed individuals and what that means for their life.
The genetic component of Marfan syndrome is something that I am both fascinated and frustrated with. MFS is believed to be caused by a mutated chromosome and there is a 50/50 chance it can be passed down to your children with just one carrier. The mutation can also occur spontaneously (that’s me!). Genetics is interesting because with greater access to testing for the mutation comes a new layer of responsibility for diagnosed individuals and families to navigate. Should I get genetically tested? Should I consult a geneticist if I want to have a family? What does my partner think about this? Will my children blame me for not getting tested? Genetics raises these kinds of questions, not to mention the cultural sway that “knowledge is power” has over our lives.
I never thought of myself as a Health Activist, but after beginning this challenge I decided to embrace the title. What is different about me is that I generally do not like to write about my day to day symptoms or advice on living with Marfan syndrome. You probably won’t see me spearheading a charity any time soon, either. I am curious about how cultural and social perceptions of illness impact on our attitudes, beliefs and behaviours. I would say that my vision and critical disability theory have influenced the way I view health and illness a great deal. It frustrates me that illness and disability are viewed as negative, pathological and in need of being “cured”. It frustrates me even more that I am influenced by these norms. My hope is to challenge these norms and discuss a different perspective for living with chronic illness and disability.
Above all else, I value each persons’ lived experience and point of view for what they are, even if they differ from my own.