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By: Alexandra Rudolph

Imagine if you had a chronic condition and no one could find a correct diagnosis. That was the problem facing Jessica Denbo, 25. As a child, Jessica was always sick and fatigued. She visited specialist after specialist, and even her physician dismissed the idea that she could have a disorder. Years later, Jessica was finally diagnosed with Type 1 Gaucher Disease.

"My road to a Gaucher diagnosis began at a very early age. As a child I was always sick and no one could ever really figure out what was wrong. I was misdiagnosed numerous times and went from specialist to specialist — even ending up at Johns Hopkins when I was in fifth grade — with no success. My main complaint had always been fatigue, and I was never able to go out and play like other kids my age. At some point in elementary school, my grandfather saw an 'ad' about Gaucher in a Jewish publication, which included a list of symptoms. As you know, Gaucher symptoms can be quite vague, but he sent off for a few copies for my mom to give to my doctor. The idea that I had this disorder was immediately dismissed by my physician and I continued having symptoms throughout my youth.

"The summer going in to my senior year of high school, I worked as a camp counselor. Throughout the months I was there, I started having dizzy spells and went to have blood work done when I finally returned home. My doctor was alarmed because my platelet and blood counts were severely off, so he sent me to the children's hospital at UAB to see a hematologist/oncologist. After many more tests, including two bone marrow aspirations, I was finally diagnosed with Type 1 Gaucher Disease. I immediately began treatment in the spring of 2004, at the end of my senior year in high school.

"I have now been on Cerezyme for 7 years and have been able to fix much of the bone and organ damage that had already occurred, although my levels will never be normal. On a day-to-day basis, I feel the effects of the disorder in the form of constant fatigue. Even though the treatment has helped in a lot of ways, nothing has ever helped the fatigue, which has been my biggest frustration. While it is treatable, the thought of living with Gaucher for the rest of my life is definitely a hard pill to swallow. At 25, I have to worry about doctor appointments, infusions and health insurance on a constant basis. As I have grown older and become more comfortable talking about my condition, I have tried to educate my peers about genetic testing and Gaucher disease specifically.

"In terms of recommendations for prospective parents, my biggest push is towards understanding the risks and educating themselves as much as possible. My parents did everything right, they both got tested before they started a family, but at the time Gaucher disease was not on the panel. So my final recommendations would be to stay abreast on the genetic testing panel after having children and to make sure their physicians know if they are Jewish in case something new has been added that they were not tested for in the beginning."

Jessica and her family took full responsibility for pushing healthcare professionals get an accurate diagnosis. They kept asking questions, repeating laboratory tests, seeing specialists, and getting second opinions. It was her grandfather, not the physicians, who came up with the initial diagnosis.

As a future physician, and as someone who had a serious misdiagnosis as a child, I find it critical for healthcare professionals to help make the best diagnosis for patients—even if that means referring patients to another professional. As a patient, make sure you confident about your diagnosis when leaving the examination room. If you have further questions or need would like a second opinion, take responsibility for your health and ensure yourself a truthful diagnosis. Be your own health advocate.


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Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Talk to your relatives for warning signs and assess your risk for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more .