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The following, as conveyed by Adrianna Baker, is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
I always had symptoms but I didn’t know what what wrong. When I was 17, my sister was diagnosed and, upon reading her paperwork, I realized that the symptoms matched what I was experiencing.
I was officially diagnosed at 18. I read up a lot about symptoms and was part of a research study with Dr. Bruce Beutler at UC San Diego.
How did you get connected with the National Gaucher Foundation?
Honestly, I can’t remember how I heard of the NGF. Most likely through social media. It’s helped me feel connected.
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?
My biggest suggestion is be your own advocate or advocate for your child. Don’t ignore symptoms, don’t push your body too hard – you have to listen to your body, and get treatment. I was not always the best at listening to my own advice.
This disease is a part of us – but it doesn’t define us. We are warriors.
It’s also very helpful to connect with others.
Is there anything that you think the general public should know about Gaucher disease and the greater Gaucher community?
I’m all about spreading awareness. Most people aren’t aware of rare diseases and the fact that some are invisible. You never know what someone is going through just because they look okay on the outside.
Some people think you cannot be affected if you are not Ashkenazi. I am proof that you can be. The Gaucher community is great, and as scary as it is to get a diagnosis, you’ll find comfort and acceptance in this community.
If you could describe the Gaucher community in a few words or phrases, what would you say?
We are brave. We are fighters and advocates. We are just normal people dealing with an awful disease.
