My name is Ilaina Davidson and I live in Los Angeles with my husband and two daughters, Rebecca (15) and Abby (13). Rebecca and Abby have Gaucher Disease Type I (diagnosed at birth) and have been on Enzyme Replacement Therapy (ERT) since they were 2 and 3 years old respectively. Our family’s Gaucher journey started when my husband and I underwent genetic testing while we were trying to conceive. Through that process we were both identified as being carriers for Gaucher Disease, something we had never heard of previously. After the initial surprise and concern subsided, we did some preliminary “research,” which included contacting others in the Gaucher community. The first person I ever spoke with who has Gaucher disease was Cyndi Frank, the cofounder of the GCA. I vividly recall that phone conversation 15 years ago and the deep relief and inspiration I felt after speaking with her. What a gift! The connections with others in the Gaucher community have been invaluable as they have provided us with information and have infused our experiences with camaraderie and hope.
Being part of the GCA has been fantastic for our whole family, as we have been gifted with the opportunities to talk with and learn from many kind parents and patients who are on this journey. For Rebecca and Abby it has been a place to meet other people, especially children and teens, who understand firsthand about their experiences of having Gaucher Disease and receiving ERT. These experiences have helped us logistically with useful information, mentally with reminders to consider all options and have perspective, and emotionally with support and encouragement. As the GCA has given me and my family the vital gifts of HOPE and community, I am honored to be a part of this organization.
For the newly diagnosed patients and/or parents/family members, I would encourage them to recognize any feelings that they may experience, because receiving this diagnosis can be very overwhelming. I would then remind them that they are not alone and that there is an amazing Gaucher community. I would strongly recommend that they reach out to others who have been on this journey to learn as much as possible and know that they are part of a robust community of people who are thriving.
