Turning my Gaucher disease ripple into an ocean of hope
How I've learned to advocate and share my story since my diagnosis
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How can I turn a ripple into a giant ocean? How can my ripple have a lasting impact when there are thousands of ripples just like mine? How can I weather a storm that I’m not sure will ever end?
For the longest time, I struggled to come to terms with my Gaucher disease diagnosis in September 2010. Prior to that, I was happy and seemingly healthy, though multiple red flags warned me a storm was approaching. I had just given birth to my first child, a beautiful little girl, and celebrated my fourth wedding anniversary. Although I should’ve been on cloud nine with so much to celebrate, something felt off about my health.
Every doctor I visited had a different explanation for why I felt so poorly, but none of the answers seemed right. I knew I would have to advocate for myself and keep fighting until someone discovered the cause of my symptoms.
For months, I visited the “best” doctors, only to hear the same explanations repeated over and over. Eventually, despite feeling as though no one wanted to listen, I met with a liver specialist. After a five-minute conversation about my symptoms, he suggested I might have a rare disorder called Gaucher disease. He sent my blood work to the Mayo Clinic, and a few weeks later, he called to tell me that his suspicion was correct.
Just like that, I went from being a single ripple to being connected to countless others experiencing the same symptoms, frustrations, and fears. I felt as though I were crashing. I’d had everything, and with one phone call, it seemed like so much of it was taken away.
As I read about the disease, fear consumed me. Would I live to see my daughter grow up? Should I have more children? How long would I live?
To ease my concerns about my daughter’s chances of inheriting the disease, my husband underwent testing. To our great relief, he was not a carrier. Finally, we had some good news. Still, I was left wondering what came next as I faced this new reality.
Expanding my ripple
I met with specialists and a genetic counselor, found a treatment that was right for me, and slowly began rebuilding my life. My ripple started to expand. Then came one of the most difficult challenges: explaining my diagnosis to family and friends. I became an educator, raising awareness about a disease that I was still trying to understand. I answered countless questions and navigated both supportive and insensitive comments.
Although my family and friends stood by me, it was difficult for anyone to fully understand what I was experiencing mentally, physically, and emotionally. Deep down, I knew I needed to connect with others who were fighting Gaucher disease. Unfortunately, there were very few people with the condition in my hometown, so I turned to patient conferences, support groups, and online communities.
Along the way, I met incredible patients, case managers, nurses, and doctors whose strength and resilience inspired me every day. Through those connections, my storm became less frightening. I found the support, guidance, and understanding I needed to face each challenge head-on. Sharing my story became easier, and I began to embrace my place among the 1 in 40,000 people that Gaucher affects.
Today, I am finally at a place where I feel comfortable sharing my journey. Advocating for myself has inspired me to advocate for others. I want my story to provide hope and confidence to those living with this disease and remind them that they can be their own strongest advocates. I know now that I don’t have to be a quiet ripple. I want to become an ocean that connects, supports, and guides other lost ripples toward hope, strength, and optimism for the future.
Note: Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Gaucher Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Gaucher disease.
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