By Christine M.
Photo by Rick Guidotti
April is the month that marks two areas of my life that have had a dramatic impact on me: my search for answers about my rare disease and my volunteer work that resulted from this journey.
April 29th is Undiagnosed Day. I have been undiagnosed, most likely since birth, as I was a “failure to thrive” baby with gastrointestinal and urinary symptoms that persisted from childhood into adulthood. My symptoms got progressively worse in adulthood and included fainting, dystonia, and many others that manifested during and after my pregnancy.
I’ve been on a diagnostic odyssey for over a decade that has not been smooth sailing. During this diagnostic odyssey, I’ve often felt like I was in the middle of the ocean in a kayak during a category 5 hurricane. At times, my kayak has capsized, and I never learned how to swim! Thankfully, through the help of friends, family, and my care team, I’ve been placed back in my kayak to continue navigating uncharted waters. The biggest wave that almost overtook me was when my then 3-year-old daughter began exhibiting symptoms similar to mine. I was devastated and wanted to pretend it wasn’t happening.
Living with an undiagnosed disease does not just affect a person’s physical health but also their mental health. When I noticed the same symptoms in my daughter, I felt guilty that I gave her my condition. I know this isn’t rational, but it’s how I felt. I’ve learned over the years to allow these emotions to pass over me, to be with them in the moment, and then plan to move forward. It was heartbreaking to see my child struggle with symptoms like mine. However, this ignited a fire within me. I knew 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 Undiagnosed Disease Network.
Living undiagnosed is extremely difficult. It’s lonely and isolating. Your doctors have to be creative with the ICD-10 diagnosis codes. You have to fight for everything, all while managing a condition that doesn’t have a name. While these challenges are real, many blessings have come out of living with an undiagnosed rare disease. I’ve shared my story countless times and am always amazed by the love and support I have received from complete strangers. While I would not want my daughter to have the same condition as me, there is a blessing in that we have and understand each other. Lastly, all of the hardships and struggles of living undiagnosed have led me to become involved in the most fulfilling work I’ve ever done – volunteering as a rare disease advocate.
April is National Volunteer Month, and as I reflect back on my volunteer work, I cannot help but be grateful. Volunteering allowed me to create meaning out of the struggles that come with living with an undiagnosed disease. I can use my voice to impact the rare disease community. I can help others by utilizing what I learned from living undiagnosed for over a decade. This is what true joy is: helping others. My volunteer work has forced me to look outside of myself and has made me a better person. Volunteering has been a true gift, and I am so thankful to NORD for allowing me to volunteer despite the limitations of my illness.
For all the tears I cried, those April showers blossomed into May flowers as I continue to volunteer with NORD and the rare disease community, as well as serve as the Pennsylvania Rare Action Network Volunteer Community Ambassador.
Ready to make a difference? Sign up to volunteer with NORD today at rarediseases.org/volunteer-application.
If you are undiagnosed and searching for answers, do not give up hope. The National Organization for Rare Disorders and our partners are here to help. Learn more.
