Want to share your story? Contact us and we’ll be in touch.
The following, as conveyed by Alex Morán about his son Gabriel, is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
My son Gabriel is currently 14 years old. We discovered the disease when he was 5 years old, in 2015. He presented symptoms that, no matter how many times we took him to the pediatrician, did not go away: a swollen abdomen and joint pain, accompanied by anemia and a multitude of symptoms. This led us to a series of studies and tests, during which a private hospital conducted a special examination that detailed that Gabriel had Gaucher Type 1. The doctor referred us to a hospital where they treated the disease with enzyme replacement therapy using imiglucerase.
Due to the lack of knowledge in my country of Ecuador, they did not know much about this disease. The Internet and self-knowledge were very helpful factors. Shortly after, Gabriel developed antibodies to imiglucerase, suspending his treatment. To date, he has gone nearly 9 years without medication.
How did you get connected with the National Gaucher Foundation?
We reached out to the National Gaucher Foundation through the Internet, looking for more people who are going through this experience.
Since there is not much knowledge about treating this disease here in Ecuador, they helped me understand more about this little-known illness. That’s how I contacted Dr. Robin Ely, who has been very helpful to us with her knowledge and guidance in treating my son, who was very ill, with hemoglobin at extremely low levels.
She recommended an alternative treatment, which is the consumption of ambroxol. This treatment has shown favorable results for my son. The doctor is always attentive to him and seeks to ensure that one day we receive the medicine he needs.
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?
I want to share a few words with all those who are starting their journey with Gaucher disease. This journey can be overwhelming and full of uncertainties and frustrations, but I want you to know that you are not alone in this. One of the most important things I have learned is to let go of fear; it is of utmost importance. Educating yourself about the disease will provide you with the right tools to face the challenges of living with a family member who has Gaucher.
In my case, it is my son, who has shown me at such a young age that he is very strong and does not give up. So, keep going!
I think it’s super important for people to know that Gaucher disease isn’t as rare as many think; it affects many families. While it can be a challenge, with the right support and information, it can be managed well. The Gaucher community is incredibly united, and there are always people willing to share their stories and help.
Making more noise about this disease is key for everyone to understand what it involves and to offer their support. Together, we can achieve great things!
Is there anything that you think the general public should know about Gaucher disease and the greater Gaucher community?
People should know that Gaucher disease isn’t as rare as many think; there are many families facing it. Although there are challenges, the Gaucher community is incredibly supportive, and there’s always someone willing to help. Talking more about this disease is key for everyone to understand what it’s all about and to offer their support.
If you could describe the Gaucher community in a few words or phrases, what would you say?
The Gaucher community is like a big family united by support and understanding. Here, we share our stories and help each other because no one has to face this alone. Together, we tackle challenges with hope and make noise so that more people know about this disease.
