Shannon's Story

I was diagnosed with Parry Romberg's Syndrome at age 29, though it is likely that I had symptoms of the disease long before that. I am writing this story at age 37. I know that PRS affects everyone in different ways, both physically and emotionally. I'd like to share my story in the hopes that it will help others with this disease. I know that other patients' stories greatly helped me as I started my journey with PRS.

My diagnosis came after approximately 4 years of diagnostic tests and multiple doctors and specialists. I did not present with overtly obvious signs of hemifacial atrophy and still do not exhibit this feature to as great of an extent as some others. I do have the "en coup de sabre" indentation on my right forehead and some hemifacial atrophy on my right side - this is what eventually led to my diagnosis. I, instead, appear to have a more neurological presentation of PRS (chronic migraines, chronic optic neuritis which led to optic nerve atrophy in my right eye, and oculomotor problems/diplopia in my right eye). I also have some either related, or overlapping autoimmune-type symptoms including arthritis, hypothyroid, and chronic fatigue syndrome. The sudden onset optic neuritis at age 25 began my journey to a PRS diagnosis (after 4 years of testing for things like Multiple Sclerosis, Lupus, and others). In looking at old pictures, I can see the "en coup de sabre" indentation since at least age 17 -though it had been milder in the past. I am not sure, then, when my PRS exactly started, nor am I sure if it is still active. The facial atrophy does not appear to have progressed; however, the chronic migraines and other disease activity remain. I take a daily anti-convulsant to help with the migraines, and I have recently found that a healthier diet seems to help some with the chronic fatigue. I will never get my vision back in my right eye, but I have learned to work with that!

I wanted to share my story because, throughout this journey, I found that it was sometimes difficult to locate information on the "other" symptoms of PRS besides, or in addition to, the facial atrophy. I do not think that my facial atrophy will ever rise to the level of needing surgery and I can't imagine how difficult that must be for some who struggle with this disease. The burden of the "other" symptoms can, however, also be difficult to deal with on a daily basis, and I hope that we will soon have more research and information on symptoms like migraines, seizures, eye disorders, and overlapping syndromes to paint a complete picture of how PRS affects different individuals.

I do think that having this disease has made me a more compassionate person, and I appreciate many more things in life that I perhaps would have taken for granted before. I have an amazing husband, for example; and despite dealing with the symptoms of PRS, I completed a PhD program at one of the top graduate programs for my field, went on to complete a competitive postdoctoral fellowship at a school of medicine at a major research university, and have recently accepted a faculty position in my field at an amazing liberal arts school.

I suppose my take home message is this: be your own best advocate. Having to move 3 states from when I was diagnosed with PRS to when I obtained my faculty position meant having to start over with doctors and specialists 3 times! I learned that we often know more about our disease than some of the doctors - it is just such a rare disease, and sometimes you have to "shop around" to find the right physician, and be proactive when you do! I also learned some great lessons about taking care of my health, and the importance of social support - surround yourself with supportive people and resources!

Feel free to leave a message for Shannon at rombergs@hotmail.com