When you or a loved one is diagnosed with Gaucher disease (pronounced go-SHAY), it’s important to know that a diagnosis is not the end – it’s the beginning.
Living with undiagnosed Gaucher until I was 14, the despairing part of my story was not my diagnosis, but rather, the long, circuitous diagnostic journey, which included misdiagnoses of Perthes disease, osteomyelitis, septic arthritis, lupus, rheumatoid arthritis, and even testing for leukemia and bone marrow cancer.
I endured multiple surgeries, lengthy hospital stays, and many serious diagnostic and non-diagnostic procedures. My orthopedic specialist said “Nate, you’re an enigma.”
My first bone crisis happened at age five. Suddenly my left hip was in immense agony, as if someone was pushing 100 needles into one specific spot on my body. Another crisis at six caused my hip to start crumbling, which led to a long-lasting limp.
At ten, the same pain appeared in my right hip. My legs were placed in a mold cast and full-leg braces for nine months. During what was supposed to be exciting times starting at one of the most prestigious, competitive middle schools in NYC, I was bedridden for almost a year. This was the worst time of my life.
Finally, I was allowed to walk with crutches, then a cane. Then, pins and screws were placed into the hip, allowing me to walk freely.
Every bone crisis came with years of physical and emotional recuperation. I struggled personally: feeling there was something wrong with me, but not knowing what; always playing catch-up in school; keeping to myself and away from any danger; the loneliness of it all…
When another excruciating bone crisis affected by shoulder and I was in the midst of surgery, my orthopedist decided to take a bone marrow biopsy, suspecting cancer. The morphology results were fine, but my parents sought a second opinion and were referred to a geneticist.
Almost a decade after it all began, the years of suspense came to an end. I was diagnosed with Gaucher.
It was the first time I’d ever heard the word. I’d been hoping for a positive diagnosis of something, just so we could know what we were dealing with. But this moment didn’t bring relief. I realized that many of my surgeries and procedures were for naught and looked back on the precious childhood years wasted. How was the right diagnosis missed for so many years by the best doctors in NYC? A sense of dread engulfed me.
After a period of denial, surgery rehabilitation and more missed school, I finally realized how lucky I was. It could’ve been much worse. Gaucher is treatable, while so many other suspected conditions are not.
At the time, not much was known about Gaucher – and it’s still not on the radar of the majority of doctors.
Gaucher is of the most common lysosomal storage disorders that results from not having enough glucocerebrosidase (GCase is an important enzyme that breaks down a fatty chemical called glucocerebroside). Because the body cannot break down this chemical, fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow.
While Gaucher disease can affect anyone, it’s most common among Jews of Ashkenazi (Eastern European) descent. 1 in 10 of this population are carriers of the disease, who do not have symptoms, while 1 in 450 actually have the disease. Some who have Gaucher exhibit no symptoms. Others have symptoms that may be mild or, like me, severe.
Fortunately, research into Gaucher is now being conducted around the world. The National Gaucher Foundation (NGF) serves as a valuable resource those of us who have been diagnosed – and those in search of answers.
For me, the NGF was and is an incredible blessing. They brought me into the Gaucher community – enabling me to share my story and learn from others with the disease. I got the treatment and resources I needed and ended up in a better place than I’ve ever been.
Today, I am very proud to be an ambassador for NGF, and will appear in this new role at their annual patient event in New York on October 27.
Being an ambassador for NGF gives me the opportunity to be an advocate, offer support to individuals just diagnosed, hear their stories and share mine. While everyone has a unique clinical history and personal medical journey, the organization helps us connect and develop special relationships. Now, we know that being diagnosed with Gaucher is not an ocean to swim across, but a puddle to jump over.
I’m very grateful to NGF, my brilliant doctor Dr. Mistry, and everyone we met during my post-diagnosis journey. This odyssey made me strong and appreciative, empathetic for others, and ready to spread the word.
Connecting with children and other young adults with Gaucher truly brings my story full circle. It’s a precious opportunity to offer the kind of support that only someone like myself, who knows their struggles firsthand, can give.
I especially love to share how my treatment allows me to live a happy and fulfilling life. Currently, I am looking forward to getting into medical school in a few years. I’m in a great relationship, and I’m surrounded by an incredible support system – both from my family and through the National Gaucher Foundation.
Honestly, I could not ask for a better life than the one I currently live.