NGF Community Blog

Ambassador Spotlight: Kelly Burns

What were the events leading up to your diagnosis?

I had been getting lots of nose bleeds as well as experiencing a lot of bruising and extreme fatigue. I was a teenager. I chose to hold off on starting treatment since I was stubborn and didn’t want bi-weekly infusions to disrupt my schedule.

What has been your biggest challenge living with Gaucher’s Disease?

Pain Management has been my biggest challenge. For years I’ve struggled with finding the right pain relief for my individual symptoms. Initially I leaned on addicting medications for relief. I quickly learned were not helping my situation. Now, almost two years later I have found better pain management medication and, more importantly, I lost 40 pounds that seems to alleviate some of my pain. Finding the right medication and getting to a healthier weight has definitely helped me live every day with pain associated with Gaucher’s.

Please describe your care team and the impact they have had on your life.

Everyone on my care team has played a crucial role in caring for me in some way.  One care team member in particular stands out, my home nurse, Cindy. She has had such an impact on not only my life, but my family’s as well. Our relationship goes beyond the medical aspect of biweekly infusion appointments.  We talk to each other about so much more.  We are not simply nurse and patient, nor are we just friends. We are family.

What is the benefit of having a Gaucher specialist on your care team?  

I feel it’s important to have a Gaucher specialist in addition to just a primary doctor as Gaucher disease is rare. These specialists are just that. They “specialize” in this disease, which means they have more than one patient and understand how the disease presents as well as how to best manage it. They also have plenty of resources for whatever questions or issues that may arise.

What are some ways you are striving to maintain and achieve your optimal health?  

Over the past 2 years I’ve focused on different pain management options for better quality of life. For 4 years I relied on strong narcotics to relieve my pain and I made it a mission to find relief with medicine that is far less addictive.

What is one thing you would tell someone who has just been diagnosed with Gaucher disease?

When I was first diagnosed I didn’t fully listen to my doctor and chose to not go on treatment because I had no symptoms.  Years later I had an enlarged spleen, bone pain etc.  My one suggestion would be to take the advice of whatever treatment your Gaucher specialist suggests even if you have zero symptoms.  It will prevent issues later on and ensure that no irreversible damage occurs to your body.

What does it mean to be an NGF Ambassador?  

Being an NGF Ambassador means the opportunity to create more awareness of and conversations about Gaucher Disease. Constant communication between Gaucher patients are critical. Being a rare disease such as this, having Ambassadors at every age and symptom range make it great for every patient to hear. It gives us information but most of us, courage.

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