How can I turn a ripple into a giant ocean? How can I make an everlasting ripple when thousands of ripples like me exist? How can I weather a storm I am not sure will ever end?
For the longest time, I have struggled accepting my diagnosis. For 27 years, doctor after doctor misdiagnosed me, so like a ripple, my new reality began slowly. Prior to my diagnosis, I was happy and seemingly healthy even though multiple red flags warned me about the upcoming storm. I had just given birth to my first child, a beautiful little girl we named Ellison, and celebrated my four-year wedding anniversary. And though I should have been on cloud nine with so much good fortune, something continued to feel off. Since every doctor dismissed my ailments as mental, I had to advocate for myself and fight for doctors to figure out why I started my sudden storm.
So for months I visited the “best” doctors, only being told the same thing over and over regardless of my markers or my story. Finally, after feeling like no one wanted to listen anymore or even cared to listen, by chance, I met with a liver doctor who after a five-minute discussion about my symptoms told me I might have a rare disorder, Gaucher disease. After sending my blood to the Mayo Clinic, the doctor called me a couple of weeks later to tell me his hunch was correct.
Just like that, I went from being just one small ripple, to being connected to countless other ripples who were dealing with the same symptoms and frustrations as myself. Suddenly, I felt like I was crashing. I had everything and with this simple phone call, I felt like so much had been taken from me. Reading about the disease made me fear my future. Will I see my daughter grow up? Should I have other children? How long will I live? To ease my fears about my daughter’s chances of inheriting the disease, I had my husband get tested and to our relief, he was not a carrier—finally some good news. But what now? Soon I would have to deal with my new reality.
I met with more specialists and a genetic counselor, found a drug that was right for me, and I was ready to start living life again—to begin the next phase of my life. My ripples began expanding. Now it was time for the hard part, explaining to friends and to family members about a disease to which so few people were familiar. I had to become an educator and to raise awareness about a disease I myself had so few answers. I had to field plenty of questions and comments both positive and negative. Though my family and friends were supportive, it was hard for anyone to understand what I truly was going through mentally, physically, and emotionally. I knew deep down that I needed to find a way to connect with other people fighting Gaucher. Unfortunately for me, in my home town there are not many people with the disease, so I began connecting through patient meetings and online communities.
I have met so many incredible, strong patients, case managers, nurses and doctors along the way who inspire me to fight each day. By connecting with others, my storm became less frightening and I now felt the support and guidance I needed to face this storm head on. Soon it became easier to share my story and feel my place of 1 and 40,000 affected.
I’m finally at a place in my life where I feel comfortable sharing my story and my journey. Being an advocate for myself makes me want to share my journey and struggles with anyone willing to listen. I want my story to provide hope and confidence for others afflicted with this terrible disease and to inspire them to know they too can be their best advocates and are more than a ripple. But the real reason I speak is for my kids. I can never know how the disease impacts them. They have seen mommy at her worst and her best. Through sadness, needle pricks, long infusions, doctor appointments and fatigue, they are my reason I stay afloat and weather this storm daily. I know that I can no longer be a quiet ripple; I want to be an ocean that connects and guides so many other lost ripples to hope and optimism about their future.
