This month we are introducing you to NGF Ambassador, Michele Pryor.
What were the events leading up to your diagnosis?
As a young child, I had a distended abdomen, low blood counts, high bilirubin and bruised easily. For several years, I saw a variety of doctors and was misdiagnosed before being referred to a rare disease doctor. He connected us with a Gaucher specialist, and I was diagnosed in 1985 after a bone marrow sample confirmed the diagnosis. This was 7 years before treatment was available, so I spent most of my childhood experiencing bone pain, fatigue, and other common symptoms.
What has been your biggest challenge living with Gaucher disease?
My biggest challenge in living with Gaucher is trying to maintain a balance with the number of activities that I have to/want to do versus getting the rest I need. Because Gaucher is an “invisible” disorder, it’s not as obvious that fatigue plays a big part in my life, and it is frustrating that often, people who are healthier don’t have empathy to try to understand that I need time to recharge.
Please describe your care team and the impact they have had on your life?
To me, the most important person on my care team is my home infusion nurse, Linda. She has been coming for many years, and I trust her with my health. She knows all of my medical quirks and is as much a friend as she is a skilled health care provider. I see a Gaucher specialist once a year and follow with a local hematologist as well. My primary care physician has always taken my concerns seriously and will assist with whatever is needed.
I feel it is important to include my mental health provider as well; I have learned that having a chronic illness has impacted my emotional health. I have dealt with depression for many years, and working with someone to address that (very significant!) aspect has brought a lot of healing.
What is the benefit of having a Gaucher specialist on your care team?
Having a Gaucher specialist is a necessity from my experience. They are knowledgeable about this rare condition and are up to date on the latest treatments and research, often spearheading their own studies. Most other physicians that I see have told me that they don’t know much about Gaucher and ask me what I need from them! Consulting with an expert is critical to achieving the highest level of health.
What are some ways you are striving to maintain and achieve your optimal health?
Outside of my infusions, I commit to 30 minutes of exercising most days of the week. Yoga, strength training, and cardio top my list. I try to pay attention to how I’m feeling and tailor my activity to that. I recently joined an adult jazz dance class, which has been a lot of fun! Eating a healthy diet makes me feel more energetic (but don’t get me wrong- I love French fries!). I take time to be alone to keep from feeling overwhelmed. I enjoy art and music as well. My faith is important to me and gives me the strength to face the day.
What is one thing you would tell someone who has just been diagnosed with Gaucher disease?
For someone who has just been diagnosed, I would say to connect with the Gaucher resources and communities as much as possible. It’s easy to feel alone and confused, but we are blessed to have many people and organizations who want to help patients to be as healthy as possible! There will be ups and downs, but there is hope!
What does it mean to be an NGF Ambassador?
The opportunity to be an NGF ambassador means connection to me. Listening to the stories of people’s journeys and sharing my experiences helps to push back the feelings of isolation and helplessness for patients. It also brings awareness of Gaucher to the public and medical community.