Enzo the Incredible

Enzo was admitted to the children’s hospital on 12/4/2020 due to failure to thrive. He failed his swallow study on 12/7 and had an NG tube placed. He was discharged on 12/10. In the course of a few weeks, he pulled out his NG multiple times, which would land us in the ER to have it replaced. The decision was made to have a g button placed in his stomach. Prior to his surgery, the doctors did a barium test through his NG to make sure his anatomy was correct to have the surgery. This scan played a huge role in our current diagnosis. During the initial admission in December, genetics was consulted. The tests came back inconclusive. The genetics doctors decided to test again, specifically Niemann Pick and Gaucher Disease. Back to that barium test prior to surgery....Enzo’s GI doctor called us to let us know that he had an enlarged liver and spleen. We actually had known about this previously, but were told it wasn’t concerning. Now it was something. During this phone call, she stated that because of the enlarged organs, the failed swallow test, the strabismus, and the developmental delay, she believed he had Gaucher Disease. Specifically, type 2. She stated we would have the full genetics test back on 2/5. That date came and went. 12 days later, we received the official diagnosis of Gaucher 2/3. Receiving this diagnosis has significantly altered our lives going forward. We are hoping to start infusion therapy soon! Welcome to our journey.

Here is a link that describes the 3 different types of Gaucher Disease. 

https://www.gaucherdisease.org/about-gaucher-disease/what-is/