Living With an Unexpected Rare Diagnosis as a College Student

I was diagnosed with Type 1 Gaucher disease when I was 18 years old. This information came as a shock to me as I was just about to start my freshman year as a volleyball player at Fairleigh Dickinson University in Madison, N.J.

The journey to my diagnosis began, as unbelievable as it sounds, with wanting to try Accutane for my acne at the time. I had to get blood drawn to ensure the oral medication would agree with my system. However, instead of the results I was looking for, I discovered my iron levels were extremely low and that I was anemic. A year later, I went to my hematologist hoping he would confirm my iron levels had gone up. Unfortunately, they stayed the same. At that point, I knew something was wrong.

After several unsuccessful blood tests, I underwent a bone marrow biopsy to finally figure out what was happening. The biopsy revealed I had Type 1 Gaucher, which was shocking as it is primarily found in people of Jewish descent.

I remember crying when my doctor told me the news. I had a rare, incurable hereditary disease that entailed having enzyme replacement therapy infusions every two weeks, for the rest of my life. He said I could still play volleyball, but I would have physical restrictions until my blood counts were normal.

Despite my unique medical situation, I tried my best to live life as a “regular” college student. Yes, I would miss some early morning practices or be a little late to class because of my infusion schedule, but other than that I was pretty successful. Those close to me knew about my blood disorder, but I never broadcasted it to those who did not know.

Until now.

I went through four years of college being a full-time student, volleyball player and making time for infusions. Thankfully, now that I am a graduate student, it is my first year not having to schedule time for infusions. I started taking an oral medication for Type 1 Gaucher patients a few months ago and so far, so good!

I hope my story inspires those who have Gaucher or any other type of disease that you can still live your life with an illness. With the support of my family, friends, and fantastic doctors and nurses, it really isn’t so bad.

Follow this journey on Gaucher Stories

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