By Christine McGarvey, NORD Rare Action Network Ambassador for Pennsylvania
I have been on a long odyssey for over a decade in search of an ever-elusive diagnosis. In addition, I noticed similar symptoms in my daughter when she was 3, and she has been on her own parallel diagnostic odyssey for seven years.
At the prompting of my daughter’s diagnostic pediatrician, we applied to the National Institutes of Health (NIH) Undiagnosed Disease Network in 2021 and were accepted. As part of the application, applicants are asked to provide a patient narrative describing how their undiagnosed disease affects their life. Rebecca C. Spillman et al. analyzed these patient narratives and characterized them based on three types: chaos, suffering and loss; restitution, expectation of recovery; and quest, embracing the experience and using it as an opportunity for growth and meaning. Not surprisingly, most of the adult patient narratives were of the chaos type. This has been my experience, especially most recently with the loss of my mother to an undiagnosed disease.
My mom gave everything to me and my daughter, especially when we needed her the most. She took both me and my daughter to countless doctors’ appointments. She helped care for my daughter when I was too weak to care for her myself. When I had issues finding a reliable caregiver, she became my caregiver. She was more than a caregiver; she was a wingman to me on my diagnostic odyssey, standing steadfast by my side through every twist and turn, offering comfort, strength, and hope.
In the last year of my mom’s life, her health declined rapidly. She experienced many of the same symptoms as me and my daughter, and ultimately passed without a diagnosis that could explain what had happened. Even in her death, she performed one more act of love by permitting an autopsy in the hopes of finding a diagnosis for me and my daughter. We are still awaiting the autopsy results.
At my mom’s funeral, both my daughter and I, along with other family members, were pallbearers. As I carried my mom’s casket out of the church, I thought how beautiful and grateful I was that I was able to help send her home to be with my dad, who also died of a disease of unknown origin. I also thought, this is #UndiagnosedLife, as I carried her with my non-PICC line arm and my IV pump on my back with my undiagnosed daughter behind me.
At my mom’s viewing, my daughter and I placed the National Organization for Rare Disorders (NORD) zebra in her casket because of their motto, “Alone we are rare. Together we are strong.” I promised my mom that I would keep advocating for undiagnosed diseases. Through my advocacy work, made possible by my mom’s years of support, I am rewriting my narrative from a “chaos narrative” characterized by suffering and loss into a “quest narrative” that embraces being undiagnosed and becoming the best version of myself.
Christine McGarvey is the volunteer Ambassador of the Pennsylvania Rare Action Network. To get involved in the NORD Rare Action Network in your state and embark on your own “quest” for rare progress, visit RareAction.org.
Do you want to honor a rare mom in your life this Mother’s Day? Show your support for the cause they champion every day: make a gift to NORD’s Rare Mother’s Day fundraiser.
If you or a loved one is navigating life with an undiagnosed health condition, learn about resources for undiagnosed patients here.