My personal journey with a rare disease began when I was in graduate school at the University of Pennsylvania School of Medicine pursuing a Ph.D. in Cell and Molecular Biology. At that time, I started experiencing severe symptoms, and it became clear that I would not be able to complete my Ph.D. I had to leave behind my full fellowship and a NIH grant that I was awarded for my research project in epigenetics. Additionally, I was no longer able to participate in classical ballet an activity that I had enjoyed from a young age. These losses were devastating.
I soon began to set sail in the quest for answers for the cause of my symptoms. This journey was not smooth sailing. I was told that nothing was wrong or worse that my symptoms were psychosomatic. This only made my odyssey more difficult as these statements poked holes in my boat. I felt like I was constantly bailing water to prevent my boat from capsizing. My arms became weary, I wanted to give up. I wanted someone to tell Homer that I wanted to jump ship and become one of the sirens as they looked like they had much more fun.
Then my only daughter at age 3 began exhibiting symptoms similar to mine, and we started a parallel diagnostic odyssey. It was heartbreaking to see my child struggle with symptoms like mine. However, this ignited a fire within me and I knew that I couldn’t give up the quest for a diagnosis, even though I often felt like a zebra searching for a diagnosis in a medical system that was created for horses. In late fall of 2021 both my daughter and I became participants in the UDN.
While we still do not have a diagnosis, the UDN has given me an incredible gift. The gift of freedom, freedom to just be, freedom to enjoy the ride instead of wrestling to keep my ship upright while managing my symptoms’ and my daughters’. This freedom has also given me a sense of peace in the knowledge that I have done everything possible to help my daughter. This freedom has allowed me to become involved in rare disease advocacy as the National Organization of Rare Disorders Pennsylvania’s volunteer state ambassador and as a member of UDN PEER. For all this, I will be eternally grateful to the UDN.
