Hi! My name is Julie and I am a mom of a beautiful, funny, sweet little girl with Gaucher Type 1. When I was pregnant, I found out during routine genetic testing that both myself and my husband were Gaucher disease carriers. We had Zoey tested a week after she was born and a month later she was officially diagnosed with Gaucher disease.
I think the beginning was the hardest for us since we didn’t know what to expect. I remember having so many questions and I felt like I just needed to know that Zoey was going to be okay. Unfortunately, we were given a lot of misinformation from my OB/GYN and the genetics department where I was going to be delivering Zoey. Once we started diving in with the experts, I remember feeling more relieved as I better understood life with Gaucher but still concerned on what her life would be like.
We have been watching for any symptoms, completing any routine testing and having Gaucher specialist appointments as advised for the last 4 ½ years. Her spleen is now 8 times the size, her biomarkers and fatigue are continuing to increase amongst other symptoms.
Zoey just had her port placed a few weeks ago and her first infusion this past weekend. She was scared at the beginning of her infusion but was fine once it started. She did a great job and my husband and I couldn’t be any more proud of her! We’re excited to see all the improvements her body will have.
We are so incredibly grateful and blessed to have access to amazing Gaucher resources. Dr. Pramod Mistry is our Gaucher specialist. He is a doctor that goes further than “above and beyond” and we will be forever thankful for what he has done and continues to do for Zoey.
I have also been connected with several Gaucher moms thanks to GCA. It has been incredibly helpful to be able to talk to other parents that have gone through the same circumstances. Every person I spoke to was so kind and supportive and it’s nice to know that there are other people out there who “get it”.
It is an honor to be the Event Planner for the Gaucher Community Alliance and be connected to a cause so near and dear to my heart.
