Want to share your story? Contact us and we’ll be in touch.
The following, as conveyed by Jodie Diaz about her son Alex, is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
Initially, we went through 2 years of testing to figure out what was wrong with Alex (AJ).
We walked into an oncology office after 2 years of testing, and the doctor looked at his symptoms and said that she thought he had a rare genetic disease called Gaucher. That was the first time we had ever heard about it, so you can only imagine what was running through our heads.
We went home that night and looked up every website that mentioned the word “Gaucher” so that we could be highly informed of treatment, symptoms, and day-to-day management.
How did you get connected with the National Gaucher Foundation?
We first got connected with NGF by researching online. However, AJ had an amazing case manager through Shire, at the time, who walked with us every step of the way.
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?
If you are just beginning your journey, the best thing I can share is research, research, research. Join as many support groups so that you can hear different experiences. Ask questions and do not stop until you find an answer.
The biggest lesson I learned through the past 14 years with my son is listen to the patient. Although the biomarkers are super important, the way the patient feels physically, mentally, and emotionally is just as important.
Is there anything that you think the general public should know about Gaucher disease and the greater Gaucher community?
Gaucher disease does not define who someone is.
I feel when addressing the general public about the disease, they should educate themselves on the disease so that they do not pass judgement on individuals.
If you could describe the Gaucher community in a few words or phrases, what would you say?
I feel the Gaucher community is very supportive, caring and understanding.
