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The following, as conveyed by Kammeron R., is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
I have always known about Gaucher disease – both my mom and uncle have/had it.
How did you get connected with the National Gaucher Foundation?
My mom let me know about the NGF a long time ago. I’ve occasionally visited the site over the years to learn more.
I’ve found it to be a valuable source of information and resources, and through the NGF, I was ultimately able to connect with Dr. Ely and obtain a diagnosis. I am especially grateful for Dr. Ely’s guidance and support.
What message do you want to share with patients and families that are just beginning their Gaucher journey? Are there any lessons you’ve learned that you think they should know?
In my experience, and my over 40 years of seeing doctors – not a single one really knew what Gaucher disease was. The lesson I would like to share?
Just because other physicians aren’t familiar with the disease, doesn’t mean it’s not important to get tested and seek treatment.
We always assumed that I was just a carrier that happened to have low platelets (my one and only symptom), so it never felt urgent to obtain an official diagnosis.
I don’t know that I would have followed through with it, but I do wish that at least one of my doctor’s had (a) more urgently encouraged me to seek testing and (b) known how to seek out more information from the NGF.
Is there anything that you think the general public should know about Gaucher disease and the greater Gaucher community?
Small. I feel very alone; even the Facebook communities are not very active.
If you’re ever feeling alone, know that there are resources available and people ready to help. The NGF Facebook Community is a growing, lively group for people with Gaucher disease and those who care for and love them.
