Last year, we introduced you to our first group of elite NGF Ambassadors. This year, we will be sharing a closer look at each of our ambassadors and their journey with Gaucher disease.
First up: Carrie Choate.
What were the events leading up to your diagnosis?
The events leading up to my diagnosis were a six-month journey consisting of three different doctors, constant self-advocacy, and endless research on my end. I was continually told that nothing was “really wrong” and that I was “just still anemic”, which was causing all the bruising. At that point, I knew I had to self-advocate. The doctors insisted my fatigue was due to my recent pregnancy, nursing and pumping around the clock, and working. After fighting to keep my spleen, an additional ultrasound confirmed again that my liver and spleen were still enlarged — just as they were five years’ prior, though no intervention was provided then. I was finally sent to a liver specialist who also happened to be Jewish and, after listening to my health history, he immediately connected the dots. My blood work was sent to Mayo to confirm the answer for which I had been searching.
What has been your biggest challenge living with Gaucher disease?
Fitting the time in for my 2.5 hour infusions into my busy life of three kids, wife and working full time. In addition, at times the fatigue can really be challenging to manage. I am an active woman, but sometimes this disease can physically exhaust me. I do my best to manage the symptoms. But the fatigue, both emotionally and physically, are at times overwhelming.
Please describe your care team and the impact they have had on your life?
My Gaucher specialist, a geneticist, oversees management of my treatment. She has been my rock. My genetic counselor has been a wonderful asset to my life after my diagnosis. I can always email her or call her with questions or concerns. My case manager through the organization that manages the financial aspect of my disease is also wonderful and so helpful. Last but not least, I could not do this without my flexible, caring, and nurturing nurse. I spend a lot of time with her every other week and she makes my infusions less daunting and draining. I could not imagine trying to manage both the stress of the disease and the stress of the financial aspect of the medication all by myself.
What is the benefit of having a Gaucher specialist on your care team?
Having a Gaucher specialist helps me navigate the other stresses that are associated with having a genetic disease as I know I have a Gaucher expert on my care team. Though she cannot cure me, she oversees the management of my treatment, helps minimize my fear of the unknown, and, most importantly, she encourages by telling me that I can live a long, fulfilling and happy life. Without my Gaucher specialist on my care team, I am not sure I would be able to manage or function as well as I do now.
What are some ways you are striving to maintain and achieve your optimal health?
I have always maintained a healthy lifestyle even prior to my diagnosis. I know how important maintaining a consistent healthy lifestyle to include diet and exercise is vital. I do my best to stay active and eat properly.
What is one thing you would tell someone who has just been diagnosed with Gaucher disease?
Stay active, rest as much as you can, lean on others for support, and stay positive. Most importantly: you are not alone. It took me many years to accept my diagnosis and seek the help available. No person should have to deal with any genetic disease alone, and patients need to be assured that there is always someone available to help.
What does it mean to be an NGF Ambassador?
It is truly an honor and it gives me a sense of hope and accomplishment during so many tough days dealing with my disease. It has connected me with so many people who are also figuring out how to manage a chronic illness. It also provides me support, guidance and education that I am not sure I might have received without this honor. This disease is a daily struggle, but I am a fighter and want to inspire others to be fighters like me.
