I am a mother. A mother of two amazing children that inspire me daily to be strong. A mother of a child with Gaucher. A child that has shown me that nothing, absolutely nothing, will stop her from following her dreams. My daughter, Stella Rae, was diagnosed at just under 2 years old with Gaucher Disease. As my husband and I found out when pregnant with our first child, we were both carriers, we researched and learned so much about the disease, that the day our daughter was diagnosed, we were scared, yet confident we could get through this daily struggle together. She started ERT at just 4 years old, she is now 9 years old. She looks forward to her bi-weekly treatments with her infusion nurse, who is an extension of our family, we have never had a substitute, always dedicated to us and comforting to our Stella. She does not have a port, rather receives intravenous injections and is beyond a trooper. Her spleen and liver have both decreased in size after receiving treatment, and she is a competitive gymnast. She will not ever let Gaucher bring her down, rather, it brings her more confidence to push through the tough times in life. We are a family that embraces the disease, and we are here to support and help others through their journey. Gaucher is a part of our life, and we welcome it. We want to continue to share our story with others, help find a cure, but most importantly, bring awareness to Gaucher with a positive light.
