What were the events leading up to your diagnosis?
What first led me to my diagnosis was getting a required blood test prior to starting Accutane, an oral medication for acne. When my results arrived, I discovered that my iron levels were extremely low and that I was anemic; I was then encouraged to see a hematologist. A year later, I returned to my hematologist hoping to find that, with her suggested treatment, my iron levels had gone up. Unfortunately, they stayed the same and at that point I knew something was wrong. After several unsuccessful blood tests, I underwent a bone marrow biopsy, which revealed that I had Type 1 Gaucher Disease.
What has been your biggest challenge living with Gaucher disease?
Once my symptoms subsided because of treatment, one of the biggest challenges about living with Gaucher Disease has become the treatment itself. At first, it was grueling to have enzyme replacement therapy infusions every two weeks. I felt great after treatment, but traveling to the hospital frequently and spending several hours at a time there was inconvenient, and the intravenous infusions were often uncomfortable. Taking the oral medication has been much more of a convenience, but I have to be extremely mindful to take two a day and at what times I am taking them.
Please describe your care team and the impact they have had on your life?
From the day that I was diagnosed, I have been blessed to have such an amazing care team. Outside of my family, who provide constant support for me, my doctors, nurses and case managers have been great. Having been diagnosed right before I started college, I was nervous about beginning treatment in a new place. Luckily, the staff at Morristown Hospital was amazing and took great care of me throughout all 4 years of college. My hometown doctor, who is now retired, was the best doctor I could have asked for. As a Gaucher Disease specialist, he always ensured that I was in great care and receiving proper treatment; he also encouraged me not to be discouraged after my diagnosis. Lastly, my Care Connect case manager is amazing. Whether it’s ensuring that my insurance is up-to-date, updating my prescription, recommending Gaucher specialists or I simply need someone to talk to, I know I can count on her. Having such a supportive care team means the world to me and I will always be grateful for everyone who’s supported me and continues to support throughout this journey.
What is the benefit of having a Gaucher specialist on your care team?
Having a Gaucher specialist is absolutely critical. I probably would not have had a proper diagnosis, especially in the timely fashion that I did, had my doctor not been a Gaucher specialist. It is important to have experts on your care team because often times you and your family don’t know everything about the disease, so it’s reassuring and comforting to have someone who does.
What are some ways you are striving to maintain and achieve your optimal health?
One of the symptoms of Gaucher Disease is fatigue, and even though I am receiving treatment, I always ensure to get plenty of rest; specifically, I get about 7 or 8 hours of sleep every night. It is also important to drink plenty of water, especially while taking the oral medication, and one of my goals is to start drinking more water.
What is one thing you would tell someone who has just been diagnosed with Gaucher disease?
The first thing that I would say is that I know this is upsetting. To be diagnosed with a disease that has no cure is undeniably scary, but the good news is that there is treatment. Like my doctor told me when I was diagnosed, don’t be discouraged. You have to accept your diagnosis and understand that you will now have a new normal. Depending on the type of Gaucher Disease you are diagnosed with, your insurance, access to treatment and other factors, it will not be easy, but living with the disease can be done. Lastly, I would encourage them to get involved with the Gaucher community because there is nothing like being a part of a close knit group when you have such a rare disease.
What does it mean to be an NGF Ambassador?
I am honored to be an NGF ambassador, especially one of the firsts. I have had a passion for advocating for Gaucher Disease ever since I came out of my shell and started connecting with other Gaucher patients in 2015. I am proud to be an ambassador because I am a prime example of how Gaucher Disease affects all types of people, and I will continue to use this platform to promote the importance of Gaucher Disease and rare disease awareness.
